ClinVar Miner

Variants from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center with conflicting interpretations

Location: Saudi Arabia  Primary collection method: clinical testing
Minimum review status of the submission from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center: Collection method of the submission from Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
3369 811 6 522 74 12 468 1001

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center pathogenic likely pathogenic uncertain significance likely benign benign affects established risk allele pathogenic, low penetrance risk factor uncertain risk allele other
pathogenic 3 259 44 2 0 2 0 0 0 0 3
likely pathogenic 249 3 90 2 2 0 0 1 1 0 0
uncertain significance 221 137 0 32 18 1 0 0 1 1 0
likely benign 6 2 22 0 3 0 0 0 0 0 1
benign 25 3 11 11 0 0 1 1 0 0 0

Submitter to submitter summary #

Total submitters: 270
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
OMIM 0 275 0 127 1 4 117 249
Invitae 0 411 0 83 22 1 114 220
Baylor Genetics 0 297 0 86 3 0 58 147
Revvity Omics, Revvity 0 157 0 57 3 0 43 103
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 77 0 67 0 0 34 101
Counsyl 0 82 0 51 4 0 26 81
Illumina Laboratory Services, Illumina 0 94 0 24 28 0 27 79
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 105 0 41 1 0 21 63
Genome-Nilou Lab 0 108 0 27 7 0 26 60
Fulgent Genetics, Fulgent Genetics 0 118 0 37 1 0 20 58
3billion 0 78 0 31 0 0 27 58
Mendelics 0 64 0 26 8 0 20 54
Natera, Inc. 0 112 0 21 6 0 18 45
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 44 0 25 1 0 16 42
Institute of Human Genetics, University of Leipzig Medical Center 0 60 0 26 0 0 15 41
Myriad Genetics, Inc. 0 41 0 16 2 0 15 33
Neuberg Centre For Genomic Medicine, NCGM 0 33 0 19 0 0 13 32
MGZ Medical Genetics Center 0 36 0 15 1 0 12 28
Centogene AG - the Rare Disease Company 0 31 0 25 0 0 3 28
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 48 0 19 0 0 7 26
GeneDx 0 14 0 4 2 0 17 23
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 33 0 17 0 0 6 23
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 23 0 11 2 0 8 21
Genetic Services Laboratory, University of Chicago 0 24 0 12 0 0 8 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 32 0 10 2 0 7 19
Genetics and Molecular Pathology, SA Pathology 0 22 0 10 1 0 7 18
Ambry Genetics 0 21 0 3 9 0 5 17
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 29 0 13 0 0 4 17
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 16 0 6 1 0 9 16
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 15 0 9 1 0 5 15
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 14 0 9 0 0 5 14
Reproductive Health Research and Development, BGI Genomics 0 7 0 6 0 1 6 13
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 31 0 8 0 0 5 13
All of Us Research Program, National Institutes of Health 0 16 0 4 3 0 6 13
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 3 4 0 0 5 12
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 12 0 10 0 0 2 12
SIB Swiss Institute of Bioinformatics 0 10 0 8 0 0 3 11
New York Genome Center 0 15 0 10 0 0 1 11
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 17 0 5 0 0 5 10
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 13 0 4 1 0 5 10
Lifecell International Pvt. Ltd 0 13 0 7 0 0 3 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 29 0 9 0 0 1 10
Johns Hopkins Genomics, Johns Hopkins University 0 16 0 3 2 0 4 9
Genomics England Pilot Project, Genomics England 0 7 0 5 0 0 4 9
CeGaT Center for Human Genetics Tuebingen 0 7 0 3 0 0 5 8
Athena Diagnostics Inc 0 4 0 1 0 0 6 7
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 9 0 2 0 0 5 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 3 0 3 0 0 4 7
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 8 0 4 0 0 3 7
Eurofins Ntd Llc (ga) 0 7 0 1 0 1 5 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 17 0 3 0 0 4 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 10 0 6 0 0 1 7
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 12 0 0 0 0 6 6
PreventionGenetics, part of Exact Sciences 0 9 0 2 0 0 4 6
Elsea Laboratory, Baylor College of Medicine 0 3 0 3 0 0 3 6
LDLR-LOVD, British Heart Foundation 0 3 0 5 0 0 1 6
UCLA Clinical Genomics Center, UCLA 0 4 0 4 0 0 2 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 9 0 2 0 0 4 6
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 7 0 5 0 0 1 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 17 0 6 0 0 0 6
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 4 0 4 0 0 2 6
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 2 0 4 0 0 2 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 14 0 4 0 0 1 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 9 0 4 0 0 1 5
GeneReviews 0 101 3 1 0 0 1 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 5 0 2 0 0 3 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 13 0 2 0 0 3 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 9 0 2 0 0 3 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 4 0 0 1 5
Hadassah Hebrew University Medical Center 0 4 0 3 0 0 2 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 6 0 3 0 0 2 5
Color Diagnostics, LLC DBA Color Health 0 7 0 2 1 0 2 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 7 0 4 0 0 1 5
Undiagnosed Diseases Network, NIH 0 6 0 0 0 0 5 5
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 2 0 2 1 0 2 5
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 3 0 1 0 0 4 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 8 0 4 1 0 0 5
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 3 0 0 2 5
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 13 0 3 1 0 1 5
DASA 0 17 0 4 0 0 1 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 5 0 1 0 0 3 4
Clinical Biochemistry Laboratory, Health Services Laboratory 0 3 0 2 1 0 1 4
Duke University Health System Sequencing Clinic, Duke University Health System 0 2 0 3 0 0 1 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 12 0 2 0 0 2 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 12 0 0 1 0 3 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 10 0 1 1 0 2 4
ClinGen PAH Variant Curation Expert Panel 0 7 0 4 0 0 0 4
CFTR-France 0 10 0 1 0 0 3 4
Clinical Genomics Program, Stanford Medicine 0 4 0 4 0 0 0 4
Suma Genomics 0 8 0 1 0 0 3 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 2 0 0 2 4
Molecular Genetics, Royal Melbourne Hospital 0 5 0 2 1 0 1 4
Arcensus 0 3 0 3 0 0 1 4
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 2 0 0 0 0 4 4
Genomics And Bioinformatics Analysis Resource, Columbia University 0 2 0 3 0 0 1 4
Mayo Clinic Laboratories, Mayo Clinic 0 4 0 2 0 0 1 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 7 0 1 0 0 2 3
Blueprint Genetics 0 2 0 2 0 0 1 3
Center for Medical Genetics Ghent, University of Ghent 0 0 0 1 0 0 2 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 4 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 0 0 3 3
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 2 0 1 0 0 2 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 4 0 2 0 0 1 3
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 4 0 2 0 0 1 3
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 4 0 2 0 0 1 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 2 0 0 1 3
Genomic Medicine Lab, University of California San Francisco 0 3 0 1 1 0 1 3
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 0 0 0 3 0 3
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 1 0 1 0 0 2 3
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 3 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 4 0 2 0 0 1 3
Dunham Lab, University of Washington 0 5 0 2 0 0 1 3
Institute of Immunology and Genetics Kaiserslautern 0 0 0 3 0 0 0 3
Inherited Neuropathy Consortium Ii, University Of Miami 0 1 0 0 0 0 3 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 2 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 3 0 1 0 0 1 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 2 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 7 0 2 0 0 0 2
PXE International 0 3 0 2 0 0 0 2
Pathway Genomics 0 1 0 1 0 0 1 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 5 0 1 0 0 1 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 0 0 0 0 2 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 1 0 0 1 2
Medical Genetics, University of Parma 0 4 0 0 0 0 2 2
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 1 0 2 0 0 0 2
GenePathDx, GenePath diagnostics 0 1 0 1 0 0 1 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 0 0 0 0 2 2
Robarts Research Institute, Western University 0 1 0 1 0 0 1 2
Daryl Scott Lab, Baylor College of Medicine 0 5 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 1 0 1 0 2
Fundacion Hipercolesterolemia Familiar 0 0 0 0 0 0 2 2
Sharon lab, Hadassah-Hebrew University Medical Center 0 0 0 1 0 0 1 2
Leiden Open Variation Database 0 3 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 4 0 1 1 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 2 0 2 0 0 0 2
Variantyx, Inc. 0 1 0 1 0 1 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 1 0 0 1 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 3 0 0 0 0 2 2
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 3 0 0 0 0 2 2
Division of Biology and Genetics, University of Brescia 0 0 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 2 0 2 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 7 0 1 0 0 1 2
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 2 2
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 2 0 1 0 0 1 2
Human Genetics Bochum, Ruhr University Bochum 0 3 0 0 0 0 2 2
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 0 1 0 0 0 0 2 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 0 1
HFI Laboratory at Boston University, Boston University 0 0 0 1 0 0 0 1
King Laboratory, University of Washington 0 4 0 1 0 0 0 1
Medical Genomics Laboratory, Department of Genetics UAB 0 0 0 0 0 0 1 1
Institute of Human Genetics, Cologne University 0 0 0 0 0 0 1 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 6 0 0 0 0 1 1
Sharing Clinical Reports Project (SCRP) 0 3 0 0 1 0 0 1
American College of Medical Genetics and Genomics (ACMG) 0 4 0 0 0 0 1 1
DLE - Diagnosticos Laboratoriais Especializados 0 0 0 1 0 0 0 1
CFTR2 0 11 0 0 0 0 1 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 0 0 0 1 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 1 0 0 0 0 1 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 3 0 0 0 0 1 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 0 1 0 0 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 0 0 0 1 1
Language and Genetics Department, Max Planck Institute for Psycholinguistics 0 0 0 0 0 0 1 1
UW Hindbrain Malformation Research Program, University of Washington 0 2 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 0 0 0 1 0 0 0 1
Laboratorio de Medicina Genomica, Hospital General de Culiacan 0 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 0 0 0 0 1 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 0 0 0 0 1 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 1 1
Human Genetics Disease in Children – Taif University, Taif University 0 0 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 4 0 1 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 1 0 1 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 2 0 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 3 0 0 0 0 1 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 0 0 1 0 0 0 1
Gansu Province Medical Genetics Center 0 0 0 0 0 0 1 1
Falavarjan Branch, Islamic Azad University, , and Biochemistry Lab(Mahdieh Medical Diagnostic Center) 0 0 0 0 0 0 1 1
Applied Translational Genetics Group, University of Auckland 0 0 0 0 0 0 1 1
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 0 0 0 0 0 0 1 1
Ege University Pediatric Genetics, Ege University 0 0 0 0 0 0 1 1
TIDEX, University of British Columbia 0 0 0 0 0 0 1 1
Wangler Lab, Baylor College of Medicine 0 0 0 0 0 0 1 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1 1
Iberoamerican FH Network 0 1 0 0 0 0 1 1
Department of Medical Sciences, Uppsala University 0 0 0 0 0 0 1 1
Laboratoire de Genetique Biologique, CHU de Poitiers 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department, Stanford University 0 0 0 1 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 0 1 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 0 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1 1
Cancer Diagnostics Division, Gene Solutions 0 0 0 0 0 0 1 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 5 0 0 0 0 1 1
Department of Immunology and Histocompatibility, University of Thessaly 0 1 0 0 0 0 1 1
Genetics Laboratory, Department of Biology, Semnan University 0 0 0 1 0 0 0 1
Breda Genetics srl 0 1 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 0 0 1 0 0 0 1
Codex Genetics Limited 0 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 0 0 0 0 0 0 1 1
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 0 0 0 0 0 1 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 0 0 0 1 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 3 0 0 0 0 1 1
Medical Affairs, Dicerna Pharmaceuticals 0 1 0 1 0 0 0 1
Molecular Pathology and Genetics, King Abdulaziz Medical City, Ministry of National Guard - Health Affairs 0 0 0 1 0 0 0 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 0 0 0 0 0 0 1 1
James R Lupski Laboratory, Baylor College Of Medicine 0 0 0 0 0 0 1 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 0 0 0 0 1 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 2 0 0 0 0 1 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 2 0 0 1 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 2 0 0 0 0 1 1
Autoinflammatory diseases unit, CHU de Montpellier 0 0 0 0 0 0 1 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 0 1 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 7 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 1 0 0 0 1
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 0 0 1 0 0 0 1
Pars Genome Lab 0 2 0 1 0 0 0 1
Department of Pediatrics, University of Modena and Reggio Emilia 0 0 0 0 0 0 1 1
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland 0 1 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 0 1 0 1 0 0 0 1
Allergy Immunology Laboratory, Postgraduate Institute of Medical Education and Research, Chandigarh 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 0 0 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 0 0 0 0 0 1 1
Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital 0 0 0 0 0 0 1 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 1 0 0 0 1
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul 0 1 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 4 0 0 1 0 0 1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 3 0 1 0 0 0 1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 0 0 0 0 0 1 1
Clinical Genetics Department, Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 0 0 0 0 0 1 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 1 0 0 0 1
Neuroalgology unit, Genetics of Neuropathic Pain Laboratory, Fondazione IRCCS Istituto Neurologico Carlo Besta 0 0 0 1 0 0 0 1
Houlden Lab, UCL Institute of Neurology 0 0 0 1 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 0 0 0 1 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 1 0 1 0 0 0 1
Imperial College London Diabetes Centre, Mubadala Healthcare 0 0 0 0 0 0 1 1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 1 0 0 0 0 1 1
Molecular Diagnostics Laboratory, University of Rochester Medical Center 0 0 0 0 0 0 1 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 1 0 1 0 0 0 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 0 1 0 0 0 0 1 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 0 0 0 0 0 1 1
Growth and Development Research Center, Tehran University of Medical Sciences 0 0 0 0 0 0 1 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 0 1 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 0 1 0 0 0 1
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel 0 0 0 0 0 0 1 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 2 0 1 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 6 0 0 0 0 1 1
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 0 2 0 0 0 0 1 1
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 2 0 0 0 0 1 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 0 0 0 0 1 1
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 1001
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_001145805.2(IRGM):c.313C>T (p.Leu105=) rs10065172 0.20755
NM_001002294.3(FMO3):c.923A>G (p.Glu308Gly) rs2266780 0.14140
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_016335.6(PRODH):c.1292G>A (p.Arg431His) rs2904552 0.06735
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) rs5030737 0.04964
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001138.2(AGRP):c.199G>A (p.Ala67Thr) rs5030980 0.02970
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009 0.01275
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_001902.6(CTH):c.200C>T (p.Thr67Ile) rs28941785 0.00693
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00502
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00354
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) rs116131367 0.00337
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter) rs74315364 0.00334
NM_005035.4(POLRMT):c.2608G>A (p.Asp870Asn) rs139383492 0.00323
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_001001548.3(CD36):c.429+2T>C rs3211893 0.00220
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_015717.5(CD207):c.790T>C (p.Trp264Arg) rs200837270 0.00189
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_178138.6(LHX3):c.252-4G>T rs372058376 0.00165
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_006715.4(MAN2C1):c.601-2A>G rs147928844 0.00120
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met) rs114400765 0.00118
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_000140.5(FECH):c.801G>A (p.Met267Ile) rs118204037 0.00108
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_005357.4(LIPE):c.551C>A (p.Ser184Ter) rs149927060 0.00083
NM_032545.4(CFC1):c.522del (p.Ala175fs) rs746231039 0.00079
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter) rs77200626 0.00064
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) rs200606803 0.00057
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_016953.4(PDE11A):c.171del (p.Thr58fs) rs529789124 0.00056
NM_018429.3(BDP1):c.7873T>G (p.Ter2625Glu) rs199721728 0.00055
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000040.3(APOC3):c.55C>T (p.Arg19Ter) rs76353203 0.00050
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_003104.6(SORD):c.458C>A (p.Ala153Asp) rs145813597 0.00033
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_025009.5(CEP135):c.993A>T (p.Arg331Ser) rs140748251 0.00027
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg) rs137852638 0.00026
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_198994.3(TGM6):c.940G>A (p.Val314Met) rs202184911 0.00021
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr) rs200620279 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_144585.4(SLC22A12):c.1400C>T (p.Thr467Met) rs200104135 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile) rs61759861 0.00018
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His) rs147937174 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu) rs202146344 0.00017
NM_138711.6(PPARG):c.391-3C>T rs370830238 0.00017
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) rs116403115 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) rs121913560 0.00016
NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn) rs200406024 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000049.4(ASPA):c.427A>G (p.Ile143Val) rs199565861 0.00014
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_007031.2(HSF2BP):c.500C>T (p.Ser167Leu) rs200655253 0.00014
NM_001195305.3(BBIP1):c.38-6T>C rs541703290 0.00013
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter) rs61758444 0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val) rs747447519 0.00010
NM_001385.3(DPYS):c.1468C>T (p.Arg490Cys) rs142574766 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser) rs762866453 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_019616.4(F7):c.854G>A (p.Arg285His) rs121964929 0.00009
NM_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys) rs148284531 0.00009
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter) rs142375551 0.00008
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_020975.6(RET):c.1879+13C>T rs375573788 0.00008
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His) rs781691587 0.00007
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589 0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000199.5(SGSH):c.410C>T (p.Ala137Val) rs367805575 0.00006
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys) rs104893843 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln) rs780538558 0.00006
NM_000587.4(C7):c.1135G>C (p.Gly379Arg) rs121964921 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001031727.4(MRI1):c.629G>A (p.Arg210Gln) rs141094096 0.00006
NM_001036.6(RYR3):c.8939G>T (p.Arg2980Leu) rs200346049 0.00006
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_022464.5(SIL1):c.1030-9G>A rs370290043 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) rs199801224 0.00006
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_198407.2(GHSR):c.709A>T (p.Arg237Trp) rs199588904 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys) rs606231453 0.00005
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) rs119103236 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133 0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000369.5(TSHR):c.1556G>A (p.Arg519His) rs780018604 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His) rs398124543 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296 0.00004
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met) rs199586863 0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_017951.5(SMPD4):c.1220C>T (p.Pro407Leu) rs747433356 0.00004
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met) rs201994921 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398 0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg) rs753558336 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp) rs75761674 0.00003
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787 0.00003
NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn) rs199566950 0.00003
NM_001276345.2(TNNT2):c.721G>C (p.Glu241Gln) rs1189945246 0.00003
NM_001375405.1(CEP120):c.595G>C (p.Ala199Pro) rs367600930 0.00003
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser) rs758509148 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg) rs763782349 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_006059.4(LAMC3):c.1048G>A (p.Gly350Arg) rs571785750 0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_013382.7(POMT2):c.1006+1G>A rs533916138 0.00003
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln) rs370455806 0.00003
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln) rs767769359 0.00003
NM_032409.3(PINK1):c.960-11C>T rs371943401 0.00003
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr) rs761231974 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln) rs771039412 0.00003
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203 0.00003
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg) rs774526353 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315 0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653 0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) rs780517804 0.00002
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln) rs776356158 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile) rs121918805 0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369 0.00002
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340 0.00002
NM_001388308.1(KIF12):c.1070G>A (p.Arg357Gln) rs746948055 0.00002
NM_002496.4(NDUFS8):c.229C>T (p.Arg77Trp) rs146766138 0.00002
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp) rs775651976 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_004104.5(FASN):c.4654C>T (p.Arg1552Cys) rs762427627 0.00002
NM_005732.4(RAD50):c.3592C>T (p.Arg1198Ter) rs761837416 0.00002
NM_016630.7(SPG21):c.141A>G (p.Ile47Met) rs776641719 0.00002
NM_017950.4(CCDC40):c.2832+360C>T rs1567813319 0.00002
NM_024725.4(CCDC82):c.535C>T (p.Arg179Ter) rs758691852 0.00002
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996 0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554 0.00002
NM_152416.4(NDUFAF6):c.420+784C>T rs749738738 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000017.4(ACADS):c.1112G>T (p.Gly371Val) rs796051905 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr) rs755817220 0.00001
NM_000053.4(ATP7B):c.4075A>G (p.Met1359Val) rs1956914257 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000094.4(COL7A1):c.4448G>A (p.Gly1483Asp) rs756217590 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749 0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113 0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000218.3(KCNQ1):c.386+16231G>A rs1490391959 0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser) rs563776413 0.00001
NM_000255.4(MMUT):c.422C>T (p.Ala141Val) rs565348836 0.00001
NM_000270.4(PNP):c.265G>A (p.Glu89Lys) rs104894453 0.00001
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter) rs1273669177 0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) rs121918143 0.00001
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 0.00001
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000371.4(TTR):c.239C>T (p.Thr80Ile) rs1254341785 0.00001
NM_000376.3(VDR):c.88C>T (p.Arg30Ter) rs121909801 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) rs58730926 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000433.4(NCF2):c.230G>A (p.Arg77Gln) rs119103275 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys) rs1327401976 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp) rs28933082 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 0.00001
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln) rs1281276965 0.00001
NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter) rs756868889 0.00001
NM_001017361.3(KHDC3L):c.1A>G (p.Met1Val) rs606231235 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001082971.2(DDC):c.853C>T (p.Arg285Trp) rs886062372 0.00001
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) rs752858869 0.00001
NM_001137601.3(ZBTB42):c.1190G>A (p.Arg397His) rs730882163 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp) rs141188608 0.00001
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250 0.00001
NM_001252024.2(TRPM1):c.279+147T>G rs150441866 0.00001
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00001
NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln) rs1024152367 0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His) rs587777395 0.00001
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001
NM_001931.5(DLAT):c.975G>A (p.Pro325=) rs1432866316 0.00001
NM_002063.4(GLRA2):c.754C>T (p.Arg252Cys) rs748764171 0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412 0.00001
NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter) rs782245537 0.00001
NM_003052.5(SLC34A1):c.1006+1G>A rs200095793 0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys) rs386134218 0.00001
NM_003235.5(TG):c.6725G>A (p.Arg2242His) rs2069566 0.00001
NM_003482.4(KMT2D):c.15332A>G (p.Asn5111Ser) rs943690439 0.00001
NM_003764.4(STX11):c.173T>C (p.Leu58Pro) rs431905512 0.00001
NM_003850.3(SUCLA2):c.1219C>T (p.Arg407Trp) rs1233249991 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004092.4(ECHS1):c.88+5G>A rs761464256 0.00001
NM_004525.3(LRP2):c.3667+1G>A rs752197557 0.00001
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu) rs386833867 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser) rs753124330 0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897 0.00001
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568 0.00001
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter) rs747905422 0.00001
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys) rs761925468 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp) rs765246909 0.00001
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser) rs750972972 0.00001
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) rs764260054 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys) rs777282696 0.00001
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser) rs786201031 0.00001
NM_015713.5(RRM2B):c.204+5G>A rs372991229 0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530 0.00001
NM_017791.3(FLVCR2):c.1318G>A (p.Gly440Ser) rs752732384 0.00001
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys) rs750896617 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_018669.6(WDR4):c.509G>A (p.Arg170Gln) rs1292041526 0.00001
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg) rs746645358 0.00001
NM_018946.4(NANS):c.709C>T (p.Arg237Cys) rs878852982 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020533.3(MCOLN1):c.984+1G>A rs767950930 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_021625.5(TRPV4):c.695G>A (p.Arg232His) rs769107613 0.00001
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg) rs397509417 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_024101.7(MLPH):c.103C>T (p.Arg35Trp) rs119473031 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502 0.00001
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) rs774005569 0.00001
NM_031433.4(MFRP):c.1549C>T (p.Arg517Trp) rs730882144 0.00001
NM_032409.3(PINK1):c.938C>T (p.Thr313Met) rs74315359 0.00001
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys) rs267606683 0.00001
NM_053013.4(ENO3):c.559G>A (p.Glu187Lys) rs772218199 0.00001
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter) rs1011767398 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_145020.5(CFAP53):c.472A>G (p.Arg158Gly) rs886037751 0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581 0.00001
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter) rs753873681 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln) rs200577967 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys) rs1229969030 0.00001
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter) rs199476204 0.00001
NM_000016.6(ACADM):c.946-6T>G rs765793260
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala) rs1597534120
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000022.4(ADA):c.736C>T (p.Gln246Ter) rs1555844120
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs) rs796065318
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000038.6(APC):c.2240C>G (p.Ser747Ter) rs773020689
NM_000038.6(APC):c.3787del (p.Cys1263fs)
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs) rs387906234
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000051.4(ATM):c.5172dup (p.Asp1725fs) rs2135893222
NM_000051.4(ATM):c.8732C>A (p.Thr2911Asn)
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.254G>A (p.Gly85Asp)
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.4195del (p.Gln1399fs) rs886041336
NM_000059.4(BRCA2):c.122C>T (p.Pro41Leu) rs786201716
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.8954-5_8954-2del rs587782878
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter) rs867425110
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter) rs72651614
NM_000092.5(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000094.4(COL7A1):c.5924_5927del (p.Glu1975fs) rs1064797080
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr) rs755253596
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) rs1017086086
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) rs776391208
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000141.5(FGFR2):c.940-2A>G rs1057519041
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg) rs2056021410
NM_000152.5(GAA):c.1431del (p.Ile477fs) rs1598580364
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000153.4(GALC):c.533G>A (p.Trp178Ter) rs968905231
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000155.4(GALT):c.820+2T>C
NM_000156.6(GAMT):c.148A>C (p.Met50Leu) rs104894694
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000159.4(GCDH):c.853-2A>G rs1057517410
NM_000170.3(GLDC):c.1595C>G (p.Thr532Arg) rs386833527
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp) rs1587908683
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp) rs1316409501
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000187.4(HGD):c.532G>T (p.Glu178Ter) rs1941184654
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) rs998842815
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) rs137852497
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter) rs1479456289
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179
NM_000215.4(JAK3):c.1207C>T (p.Arg403Cys)
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000226.4(KRT9):c.470T>C (p.Met157Thr) rs59510579
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000268.4(NF2):c.1A>G (p.Met1Val) rs1319282473
NM_000270.4(PNP):c.12-1G>C rs2139335095
NM_000270.4(PNP):c.437C>T (p.Pro146Leu) rs1594427504
NM_000271.5(NPC1):c.2245+1G>A
NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs) rs1555633637
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) rs1169032037
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn) rs58933950
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000277.3(PAH):c.591G>C (p.Leu197Phe) rs281865442
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro) rs2063192428
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
NM_000308.4(CTSA):c.553C>A (p.Pro185Thr)
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000317.3(PTS):c.342C>G (p.Ile114Met) rs17851590
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.4382T>C (p.Leu1461Pro)
NM_000334.4(SCN4A):c.4433C>T (p.Ser1478Leu)
NM_000335.5(SCN5A):c.611C>T (p.Ala204Val) rs199473559
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000348.4(SRD5A2):c.678G>T (p.Leu226=)
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter) rs1057516718
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000376.3(VDR):c.1036G>A (p.Val346Met) rs267607169
NM_000376.3(VDR):c.239G>A (p.Arg80Gln) rs121909793
NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.44G>A (p.Arg15His) rs179363876
NM_000388.4(CASR):c.1657G>A (p.Gly553Arg) rs104893719
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala) rs515726219
NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter) rs1416238665
NM_000426.4(LAMA2):c.4524-2A>T rs1554278541
NM_000432.4(MYL2):c.3+2T>C rs111373423
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe) rs111033527
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000444.6(PHEX):c.1241del (p.Leu414fs) rs886041446
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) rs886041224
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs1927568587
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe) rs1057517799
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000452.3(SLC10A2):c.318C>A (p.Cys106Ter)
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) rs201415996
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del) rs121912681
NM_000487.6(ARSA):c.418del (p.His140fs) rs745884435
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1411A>T (p.Ile471Phe)
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser) rs1177201180
NM_000492.4(CFTR):c.2739T>G (p.Tyr913Ter)
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup) rs1554682769
NM_000512.5(GALNS):c.1070del (p.Pro357fs) rs2142995810
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1706-2A>T rs878854027
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.437-1G>A
NM_000529.2(MC2R):c.459dup (p.Ile154fs) rs1555619430
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000548.5(TSC2):c.1074G>A (p.Trp358Ter) rs1229561585
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) rs45455296
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr) rs375755924
NM_000642.3(AGL):c.664+1G>A rs61811105
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_000824.5(GLRB):c.596T>G (p.Met199Arg) rs398122856
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs) rs757142781
NM_001003800.2(BICD2):c.2240G>T (p.Arg747Leu)
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs) rs1588121150
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter) rs1163930676
NM_001013663.2(PTRHD1):c.365G>A (p.Arg122Gln)
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
NM_001029871.4(RSPO4):c.98dup (p.Asn34fs) rs768138495
NM_001031725.6(DDX59):c.1600G>A (p.Gly534Arg) rs886037652
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter) rs1596891223
NM_001041.4(SI):c.853G>T (p.Glu285Ter) rs758259365
NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter)
NM_001042492.3(NF1):c.1527+4_1527+7del rs1555612294
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2850+1G>T rs1131691122
NM_001042492.3(NF1):c.2947_2948del (p.Leu983fs) rs1597716378
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter) rs1555614455
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.3496+5G>C rs786202564
NM_001042492.3(NF1):c.4558C>T (p.Gln1520Ter) rs1060500242
NM_001042492.3(NF1):c.4973_4974del (p.Phe1658fs) rs2069329470
NM_001042492.3(NF1):c.5157dup (p.Glu1720fs)
NM_001042492.3(NF1):c.6777del (p.Ser2260fs)
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg) rs1060500344
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs) rs1060500295
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.987A>G (p.Lys329=) rs2066508210
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter) rs2146029786
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) rs587780088
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter) rs1645371113
NM_001077350.3(NPRL3):c.1559dup (p.Arg521fs) rs2141895084
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs) rs587777819
NM_001080467.3(MYO5B):c.1829C>A (p.Ser610Ter) rs753160864
NM_001080467.3(MYO5B):c.4765G>T (p.Glu1589Ter) rs762039116
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp) rs1553621798
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001123385.2(BCOR):c.989C>T (p.Ala330Val)
NM_001127173.3(CADM3):c.413A>G (p.Tyr138Cys) rs2102125471
NM_001127392.3(MYRF):c.789del (p.Ser264fs) rs769274302
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001127671.2(LIFR):c.254del (p.Asn85fs) rs886041545
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) rs863225436
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln) rs387907348
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter) rs267606702
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001161.5(NUDT2):c.34C>T (p.Arg12Ter) rs148119952
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs) rs1566212378
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs) rs794726825
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro) rs1689684958
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001174089.2(SLC4A11):c.2018+1G>A rs2067654837
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001242896.3(DEPDC5):c.1838A>G (p.Asn613Ser) rs2089445867
NM_001278293.3(ARL6):c.266C>T (p.Ala89Val) rs587777805
NM_001278669.2(NFATC1):c.2032G>A (p.Val678Ile)
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter) rs398123059
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs) rs1601419986
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly) rs2122752568
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala) rs202122673
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile) rs2148332084
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001371279.1(REEP1):c.478del (p.Arg160fs) rs1675100502
NM_001371596.2(MFSD8):c.198+2T>C rs2148943607
NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter) rs759667494
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val) rs1277996676
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378778.1(MPDZ):c.4003A>T (p.Lys1335Ter) rs1587149916
NM_001379659.1(ZNF142):c.916C>T (p.Gln306Ter)
NM_001388308.1(KIF12):c.1024G>A (p.Val342Met) rs564811653
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1]) rs397516668
NM_001399.5(EDA):c.760C>T (p.Gln254Ter)
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001887.4(CRYBB1):c.171del (p.Asn58fs) rs1064793935
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002181.4(IHH):c.787C>T (p.Gln263Ter)
NM_002187.3(IL12B):c.320dup (p.Glu108fs) rs587776807
NM_002282.3(KRT83):c.811del (p.Ser271fs) rs753293188
NM_002337.4(LRPAP1):c.863_864del (p.Ile288fs) rs398122836
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002529.4(NTRK1):c.1946G>A (p.Arg649Gln) rs786205449
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) rs121918104
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln) rs121918464
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu) rs1392638187
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003394.4(WNT10B):c.338-1G>C rs1163162816
NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys) rs786205672
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln) rs776713955
NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter) rs767240461
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.713-1G>A rs2060720733
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu) rs397514733
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln) rs769259446
NM_004046.6(ATP5F1A):c.1252G>A (p.Gly418Arg)
NM_004184.4(WARS1):c.397C>T (p.Arg133Cys)
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_004273.5(CHST3):c.503T>G (p.Ile168Ser) rs1589509307
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004407.4(DMP1):c.1A>G (p.Met1Val) rs104893834
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004415.4(DSP):c.4297C>T (p.Gln1433Ter) rs1554108283
NM_004415.4(DSP):c.7097G>A (p.Arg2366His) rs387906618
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe) rs1450977775
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004527.4(MEOX1):c.94del (p.Ala32fs) rs1567750527
NM_004586.3(RPS6KA3):c.326-11A>G rs1555943503
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) rs1588585570
NM_004625.4(WNT7A):c.874C>T (p.Arg292Cys) rs104893835
NM_004628.5(XPC):c.779+1G>A rs975121308
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_004646.4(NPHS1):c.1757+1G>A rs1555762591
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter) rs527236036
NM_004928.3(CFAP410):c.643-23A>T rs1131690800
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005085.4(NUP214):c.461A>G (p.Asp154Gly) rs1564175808
NM_005101.4(ISG15):c.4-1G>A rs1644247121
NM_005149.3(TBX19):c.603+7GT[17] rs57039241
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val) rs104894269
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726
NM_005247.4(FGF3):c.196G>T (p.Gly66Cys) rs121917705
NM_005249.5(FOXG1):c.791T>G (p.Val264Gly)
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005529.7(HSPG2):c.11208-7G>A rs1336552092
NM_005534.4(IFNGR2):c.800del (p.Phe267fs) rs2123370265
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005763.4(AASS):c.1767-1G>A rs745643453
NM_005807.6(PRG4):c.2247del (p.Ala750fs) rs1656851989
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005908.4(MANBA):c.177+2T>C rs779221957
NM_005984.5(SLC25A1):c.205G>T (p.Asp69Tyr) rs2083996886
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg) rs1315777461
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs) rs863224268
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_006295.3(VARS1):c.1341G>T (p.Met447Ile) rs1581645904
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006408.4(AGR2):c.211C>A (p.Pro71Thr)
NM_006408.4(AGR2):c.349C>T (p.His117Tyr)
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del) rs781255433
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) rs1555274005
NM_006494.4(ERF):c.256C>T (p.Arg86Cys) rs587777008
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) rs1131691283
NM_006580.4(CLDN16):c.2T>C (p.Met1Thr) rs104893724
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006642.5(SDCCAG8):c.1853+1G>A rs1573930690
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006984.5(CLDN10):c.653del (p.Pro218fs) rs2043960821
NM_007035.4(KERA):c.1026del (p.Cys343fs) rs386833984
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007262.5(PARK7):c.191_192del (p.Glu64fs) rs1553122929
NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter) rs80356984
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_012144.4(DNAI1):c.1311+2T>A rs1587085165
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter) rs1364690005
NM_013328.4(PYCR2):c.529G>A (p.Gly177Arg) rs1239964151
NM_014055.4(IFT81):c.1717-2A>G rs1868517084
NM_014236.4(GNPAT):c.569-3T>G rs745869264
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter) rs1254503252
NM_014362.4(HIBCH):c.386-1G>C rs1203170244
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
NM_014425.5(INVS):c.875C>T (p.Pro292Leu) rs1831916010
NM_014625.4(NPHS2):c.115C>T (p.Gln39Ter) rs869312746
NM_014714.4(IFT140):c.1525-1G>A rs2034013225
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014844.5(TECPR2):c.2998G>T (p.Asp1000Tyr) rs1889962674
NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter) rs1888974364
NM_014875.3(KIF14):c.4071G>A (p.Gln1357=) rs1553254322
NM_014947.5(FOXJ3):c.582T>G (p.Ile194Met)
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter) rs1585190351
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_015412.4(NEPRO):c.280C>T (p.Arg94Cys) rs1236015814
NM_015665.6(AAAS):c.885G>A (p.Trp295Ter) rs766542823
NM_015937.6(PIGT):c.709G>C (p.Glu237Gln)
NM_016100.5(NAA20):c.160A>G (p.Met54Val) rs2146464332
NM_016188.5(ACTL6B):c.1120C>T (p.Arg374Ter)
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016406.4(UFC1):c.317C>T (p.Thr106Ile) rs1553232770
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys) rs761656636
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) rs773876739
NM_017534.6(MYH2):c.4662+2T>G rs1597448170
NM_017547.4(FOXRED1):c.733+1G>A
NM_017668.3(NDE1):c.658C>T (p.Arg220Ter) rs576928842
NM_017714.3(TASP1):c.701C>T (p.Thr234Met) rs904200599
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) rs886040996
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017866.6(TMEM70):c.578_579del (p.Thr193fs) rs777501387
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro) rs1595818249
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017946.4(FKBP14):c.197+5_197+8del rs747353360
NM_017950.4(CCDC40):c.1315C>T (p.Gln439Ter) rs387907091
NM_018105.3(THAP1):c.14G>A (p.Cys5Tyr) rs1586459413
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_018238.4(AGK):c.72G>A (p.Trp24Ter) rs1587053244
NM_018292.5(QRSL1):c.398G>T (p.Gly133Val) rs1562168768
NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) rs786205669
NM_018947.6(CYCS):c.79C>T (p.His27Tyr) rs1783403912
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) rs779162837
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs) rs1553198611
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_020686.6(ABAT):c.1004C>T (p.Thr335Met) rs2060222738
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1]) rs1398218251
NM_020719.3(PRR12):c.3625C>T (p.Arg1209Ter) rs2122304074
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238
NM_020829.4(RIC1):c.3794G>C (p.Arg1265Pro) rs763515150
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg) rs148402804
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021147.5(CCNO):c.425del (p.Pro142fs) rs752527657
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021939.4(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs) rs753460205
NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu) rs768092083
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter) rs2112251855
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter) rs760881963
NM_022370.4(ROBO3):c.767-1G>A rs1946261580
NM_024079.5(ALG8):c.396dup (p.Val133fs) rs753631154
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter) rs2076453599
NM_024306.5(FA2H):c.822del (p.Val275fs) rs2144601954
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys) rs121908022
NM_024926.4(IFT56):c.788A>G (p.Asn263Ser) rs1794039778
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814
NM_025235.4(TNKS2):c.1880C>T (p.Thr627Ile)
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly) rs1565941025
NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_030787.4(CFHR5):c.678del (p.Glu226fs) rs368209619
NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln) rs587776958
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) rs556752387
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn) rs558425417
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg) rs2147935344
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) rs2068539626
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_033419.5(PGAP3):c.851A>G (p.His284Arg) rs776720232
NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly) rs730882223
NM_052988.5(CDK10):c.139del (p.Glu47fs) rs1555516716
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp) rs771794639
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) rs763706988
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln) rs587783978
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro) rs727503772
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter) rs104894113
NM_133638.6(ADAMTS19):c.3538C>T (p.Arg1180Ter)
NM_138272.3(MPIG6B):c.149dup (p.Ala52fs) rs1807027560
NM_138376.3(TTC5):c.418C>T (p.Gln140Ter)
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter) rs375189195
NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro) rs1572611822
NM_139343.3(BIN1):c.1002+2T>C rs1553458019
NM_144643.4(SCLT1):c.290+2T>C rs587777504
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144992.5(VWA3B):c.1191T>G (p.Tyr397Ter) rs546662496
NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter) rs587777779
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145261.4(DNAJC19):c.55+1G>A rs2108509746
NM_145331.3(MAP3K7):c.631G>A (p.Asp211Asn)
NM_152281.3(GORAB):c.231dup (p.Pro78fs) rs1571243797
NM_152363.6(ANKLE1):c.*96GT[20] rs58535756
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys) rs1554341158
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp) rs867319899
NM_153365.3(TAPT1):c.1156C>T (p.Arg386Ter) rs1265664823
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_175748.4(UBR7):c.618del (p.Glu207fs) rs1894637828
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro) rs1973699059
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) rs756455049
NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr) rs1588563037
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg) rs752728823
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_181078.3(IL21R):c.563del (p.Leu188fs) rs2087444941
NM_181882.3(PRX):c.3098del (p.Thr1033fs) rs2145727241
NM_182931.3(KMT2E):c.418G>A (p.Val140Ile) rs74375534
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_198535.3(ZNF699):c.1623_1626del (p.Tyr542fs) rs1238886661
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs) rs1376687924
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_199242.3(UNC13D):c.2448-13G>A rs753762300
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473
NM_206538.4(EMC10):c.287del (p.Gly96fs) rs770255014
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter) rs2138066721
NM_207581.4(DUOXA2):c.228G>C (p.Trp76Cys)
NM_213653.4(HJV):c.497A>G (p.His166Arg) rs1553769663

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