ClinVar Miner

Variants from 3billion with conflicting interpretations

Location: Korea, Republic of  Primary collection method: clinical testing
Minimum review status of the submission from 3billion: Collection method of the submission from 3billion:
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
3118 1215 8 718 9 14 260 936

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
3billion pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found established risk allele protective risk factor
pathogenic 5 438 78 1 0 4 0 1 1 0 4
likely pathogenic 280 3 79 0 0 1 1 0 0 1 2
uncertain significance 46 67 0 7 1 0 0 0 0 0 0
likely benign 1 1 1 0 0 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 251
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
Invitae 0 565 0 101 8 0 47 156
OMIM 0 614 0 113 0 7 17 137
Counsyl 0 96 0 64 0 0 14 78
Baylor Genetics 0 331 0 59 0 0 18 77
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 78 0 31 0 0 27 58
Revvity Omics, Revvity 0 169 0 42 0 0 9 51
Fulgent Genetics, Fulgent Genetics 0 191 0 35 0 0 6 41
Genome-Nilou Lab 0 176 0 34 0 0 1 35
Illumina Laboratory Services, Illumina 0 112 0 16 1 0 16 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 206 0 29 0 0 3 32
Mendelics 0 116 0 24 0 0 7 31
Institute of Human Genetics, University of Leipzig Medical Center 0 140 0 23 0 0 8 31
MGZ Medical Genetics Center 0 90 0 22 0 0 6 28
Neuberg Centre For Genomic Medicine, NCGM 0 95 0 15 0 0 8 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 130 0 15 0 0 6 21
Genomics England Pilot Project, Genomics England 0 23 0 21 0 0 0 21
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 93 0 17 0 0 1 18
SIB Swiss Institute of Bioinformatics 0 21 0 16 0 0 2 18
Myriad Genetics, Inc. 0 76 0 17 0 0 1 18
Natera, Inc. 0 178 0 14 0 0 3 17
Genetic Services Laboratory, University of Chicago 0 69 0 14 0 0 2 16
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 55 0 15 0 0 1 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 77 0 14 0 0 0 14
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 59 0 9 0 0 4 13
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 66 0 10 0 0 3 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 41 0 12 0 0 0 12
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 32 0 8 0 0 4 12
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 5 0 9 0 0 2 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 44 0 9 0 0 2 11
Centogene AG - the Rare Disease Company 0 59 0 8 0 0 2 10
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 8 0 6 0 0 4 10
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 2 6 0 0 1 9
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 9 0 0 0 9
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 24 0 9 0 0 0 9
Institute of Medical Molecular Genetics, University of Zurich 0 5 0 7 0 0 1 8
GeneReviews 0 213 5 2 0 0 1 8
LDLR-LOVD, British Heart Foundation 0 3 0 6 0 0 2 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 27 0 5 0 0 3 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 32 0 6 0 0 1 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 25 0 3 0 0 4 7
ClinGen PAH Variant Curation Expert Panel 0 18 0 6 0 0 1 7
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 10 0 7 0 0 0 7
New York Genome Center 0 20 0 5 0 0 2 7
Molecular Biology Laboratory, Fundació Puigvert 0 5 0 7 0 0 0 7
Lifecell International Pvt. Ltd 0 20 0 6 0 0 1 7
UCLA Clinical Genomics Center, UCLA 0 7 0 6 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 0 52 0 4 0 0 2 6
Ocular Genomics Institute, Massachusetts Eye and Ear 0 15 0 5 0 0 1 6
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 9 0 3 0 0 3 6
Paris Brain Institute, Inserm - ICM 0 5 0 4 0 0 2 6
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 0 2 0 5 0 0 1 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 11 0 5 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 24 0 4 0 0 1 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 6 0 4 0 0 1 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 16 0 4 0 0 1 5
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 3 0 5 0 0 0 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 3 0 3 0 0 2 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 57 0 5 0 0 0 5
Suma Genomics 0 18 0 3 0 0 2 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 4 0 4 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 22 0 2 1 0 1 4
Blueprint Genetics 0 9 0 4 0 0 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 5 0 3 0 0 1 4
CeGaT Center for Human Genetics Tuebingen 0 2 0 3 0 0 1 4
Robarts Research Institute, Western University 0 1 0 4 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 7 0 4 0 0 0 4
Undiagnosed Diseases Network, NIH 0 23 0 2 0 0 2 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 30 0 4 0 0 0 4
Fundacion Hipercolesterolemia Familiar 0 3 0 3 0 0 1 4
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 2 0 0 2 4
Johns Hopkins Genomics, Johns Hopkins University 0 17 0 3 0 0 1 4
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 1 0 0 0 4 0 4
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 16 0 4 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 18 0 3 0 0 1 4
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 18 0 2 0 0 1 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 6 0 3 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 5 0 3 0 0 0 3
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 9 0 3 0 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 2 0 0 1 3
CSER _CC_NCGL, University of Washington 0 0 0 2 0 0 1 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 6 0 3 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 21 0 2 0 1 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 2 0 2 0 0 1 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 21 0 2 0 0 1 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 5 0 3 0 0 0 3
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 2 0 3 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 0 4 0 1 0 0 2 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 12 0 3 0 0 0 3
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism 0 0 0 1 0 0 2 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 24 0 3 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 8 0 3 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 16 0 3 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 7 0 1 0 0 2 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 6 0 2 0 0 1 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 10 0 1 0 0 2 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 23 0 3 0 0 0 3
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 6 0 3 0 0 0 3
Precision Medicine Center, Zhengzhou University 0 2 0 1 0 0 2 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 18 0 2 0 0 1 3
All of Us Research Program, National Institutes of Health 0 11 0 2 0 0 1 3
GeneDx 0 2 0 2 0 0 0 2
Ambry Genetics 0 6 0 1 0 0 1 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 14 0 1 0 0 1 2
Elsea Laboratory, Baylor College of Medicine 0 6 0 0 0 0 2 2
Institute of Human Genetics, Cologne University 0 4 0 1 0 0 1 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 15 0 2 0 0 0 2
PXE International 0 1 0 2 0 0 0 2
Center for Medical Genetics Ghent, University of Ghent 0 4 0 2 0 0 0 2
Centre for Translational Omics - GOSgene, University College London 0 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 2 0 0 0 2
Center for Human Genetics, University of Leuven 0 0 0 2 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 0 2 0 2 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 0 2 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 4 0 2 0 0 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 6 0 2 0 0 0 2
Iberoamerican FH Network 0 2 0 2 0 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 0 4 0 2 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 1 0 0 1 2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 6 0 1 0 0 1 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 11 0 2 0 0 0 2
Pediatric Metabolic Diseases, Hacettepe University 0 1 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 9 0 2 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 1 2
Institute of Human Genetics, Heidelberg University 0 3 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 6 0 2 0 0 0 2
deCODE genetics, Amgen 0 1 0 2 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 9 0 1 0 0 1 2
Center of Excellence for Medical Genomics, Chulalongkorn University 0 5 0 1 0 0 1 2
Clinical Genomics Program, Stanford Medicine 0 10 0 1 0 0 1 2
Molecular Medicine, University of Pavia 0 1 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 7 0 2 0 0 0 2
Department of Laboratory Medicine, Yonsei University College of Medicine 0 0 0 1 0 0 1 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 2 0 0 0 2
Centre for Human Genetics, University of Kinshasa 0 1 0 2 0 0 0 2
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 3 0 2 0 0 0 2
Houlden Lab, UCL Institute of Neurology 0 0 0 1 0 0 1 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 2 0 2 0 0 0 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 2 0 1 0 1 0 2
Athena Diagnostics Inc 0 11 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 15 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 1 0 0 0 1
Clinical Biochemistry Laboratory, Health Services Laboratory 0 4 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 6 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 14 0 0 0 0 1 1
PreventionGenetics, part of Exact Sciences 0 0 0 1 0 0 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 0 1 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 2 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 9 0 1 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 3 0 1 0 0 0 1
Institute of Human Genetics, University of Ulm 0 5 0 1 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 0 1 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 0 0 1 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 1 0 0 0 0 1 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 15 0 1 0 0 0 1
Centre for Human Genetics 0 1 0 1 0 0 0 1
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 9 0 1 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 1 0 1 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 0 1 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 4 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 6 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 0 1 0 0 0 1
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 2 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 0 0 0 1 1
Neurogenetics Laboratory, GH Pitie Salpetriere APHP 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 6 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 11 0 1 0 0 0 1
Translational Genomics Laboratory, University of Maryland School of Medicine 0 0 0 1 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 5 0 1 0 0 0 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 2 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 5 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 3 0 0 0 0 1 1
Daryl Scott Lab, Baylor College of Medicine 0 13 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 6 0 1 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 0 0 0 0 0 1 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 4 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1 0 1
Institute of Medical Genetics, University of Zurich 0 2 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 1 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 1 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 0 1 0 1 0 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 5 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 7 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 4 0 1 0 0 0 1
Wendy Chung Laboratory, Columbia University Medical Center 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 4 0 1 0 0 0 1
Uitto Lab, Thomas Jefferson University 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 5 0 1 0 0 0 1
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 0 0 1 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 0 0 1 0 0 0 1
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 2 0 1 0 0 0 1
Centre de recherche St Antoine, Sorbonne Université, INSERM, Sorbonne University 0 0 0 0 0 0 1 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 1 0 1 0 0 0 1
CFTR-France 0 6 0 1 0 0 0 1
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 2 0 0 0 0 1 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 0 0 1 0 0 0 1
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 0 4 0 1 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 7 0 1 0 0 0 1
Molecular Diagnosis Center for Deafness 0 5 0 1 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 0 1 0 1 0 0 0 1
Cardiology unit, Meyer University Hospital 0 0 0 0 0 0 1 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 2 0 1 0 0 0 1
Pars Genome Lab 0 3 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 2 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 4 0 1 0 0 0 1
GenomeConnect - Simons Searchlight 0 8 0 1 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 0 0 1 0 1
Department of Pediatric Nephrology, Wuhan Children's Hospital 0 0 0 0 0 0 1 1
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul 0 1 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 0 0 0 1 1
Pediatric Genetics Clinic, Sheba Medical Center 0 10 0 1 0 0 0 1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 4 0 0 0 0 1 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 0 0 1 0 0 0 1
DASA 0 43 0 1 0 0 0 1
DBGen Ocular Genomics 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 13 0 1 0 0 0 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 1 0 0 0 0 1 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 0 0 0 0 0 1 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 1 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 8 0 1 0 0 0 1
Eurofins-Biomnis 0 6 0 1 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 0 1 0 0 0 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 0 3 0 1 0 0 0 1
Genetics Laboratory, University of Sistan and Baluchestan 0 0 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
Geisinger Clinic, Geisinger Health System 0 1 0 1 0 0 0 1
Dunham Lab, University of Washington 0 1 0 1 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 0 0 1 0 0 0 1
St. Anna Children's Cancer Research Institute (CCRI) 0 1 0 1 0 0 0 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 0 3 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 1 0 0 0 0 1 1
Département de Neurologie, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 2 0 0 0 0 1 1
King Fahd Medical Research Center, King Abdulaziz University 0 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 0 1 0 0 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 0 0 1 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 9 0 1 0 0 0 1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 0 3 0 0 0 0 1 1
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 2 0 0 0 0 1 1
Department of Pediatrics, National Cheng-Kung University Hospital 0 1 0 1 0 0 0 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: 936
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
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_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 0.00150
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
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_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
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_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu) rs553950608 0.00044
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_006715.4(MAN2C1):c.607G>A (p.Gly203Arg) rs190692217 0.00043
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) rs200005406 0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val) rs201801144 0.00034
NM_003104.6(SORD):c.458C>A (p.Ala153Asp) rs145813597 0.00033
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys) rs201322234 0.00030
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro) rs200530055 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_207581.4(DUOXA2):c.205+2T>C rs201506037 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_153603.4(COG7):c.435+2T>C rs201446992 0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His) rs147226818 0.00020
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 0.00016
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser) rs190968346 0.00016
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_005908.4(MANBA):c.1499G>A (p.Arg500His) rs147542645 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His) rs368695808 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000293.3(PHKB):c.1127-2A>G rs535749057 0.00012
NM_006345.4(SLC30A9):c.40del (p.Ser14fs) rs767078182 0.00012
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) rs568165874 0.00011
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu) rs775006954 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_182476.3(COQ6):c.782C>T (p.Pro261Leu) rs371260604 0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535 0.00010
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037 0.00010
NM_145886.4(PIDD1):c.2042-2A>G rs199752248 0.00010
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967 0.00009
NM_001126108.2(SLC12A3):c.602-16G>A rs750901478 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003597.5(KLF11):c.1039G>T (p.Ala347Ser) rs121912645 0.00009
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420 0.00009
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628 0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_000071.3(CBS):c.572C>T (p.Thr191Met) rs121964973 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439 0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp) rs765828196 0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys) rs767778853 0.00005
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) rs201249971 0.00005
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000111.3(SLC26A3):c.2063-1G>T rs386833471 0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) rs104894068 0.00004
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) rs138249238 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) rs372754256 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009 0.00004
NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter) rs776813259 0.00004
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) rs527236031 0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile) rs622288 0.00004
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter) rs374596700 0.00004
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) rs200841458 0.00004
NM_031885.5(BBS2):c.534+1G>T rs773862084 0.00004
NM_145691.4(ATPAF2):c.133+1G>T rs147941728 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) rs104893940 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His) rs192592111 0.00003
NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr) rs121918581 0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) rs146158333 0.00003
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) rs781050795 0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe) rs752452731 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp) rs1283838287 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter) rs377600857 0.00003
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) rs151173406 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802 0.00003
NM_152443.3(RDH12):c.697G>C (p.Val233Leu) rs140257538 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_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000128.4(F11):c.682C>T (p.Arg228Ter) rs752907087 0.00002
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser) rs1297118863 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln) rs746220312 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225 0.00002
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys) rs387906674 0.00002
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320 0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315 0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299 0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752 0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826 0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter) rs1313207845 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) rs121918670 0.00002
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val) rs869025513 0.00002
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067 0.00002
NM_001297.5(CNGB1):c.217+5G>C rs527236060 0.00002
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) rs537043237 0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu) rs761051181 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_017671.5(FERMT1):c.1718+2T>C rs760256639 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144 0.00002
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His) rs55940927 0.00002
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln) rs374704368 0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter) rs757154662 0.00002
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu) rs1257907226 0.00001
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649 0.00001
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln) rs764602422 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val) rs763719290 0.00001
NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg) rs779939785 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr) rs777552825 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His) rs121909366 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780 0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221 0.00001
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu) rs121965051 0.00001
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys) rs62642945 0.00001
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter) rs1273669177 0.00001
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln) rs145877597 0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln) rs137853290 0.00001
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744 0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000376.3(VDR):c.88C>T (p.Arg30Ter) rs121909801 0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000481.4(AMT):c.496C>T (p.Gln166Ter) rs558998633 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro) rs777431148 0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_001003841.3(SLC6A19):c.908C>T (p.Ser303Leu) rs201212000 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001081.4(CUBN):c.6821+3A>G rs767078847 0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) rs1064797047 0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001142800.2(EYS):c.6191+1G>A rs1048032321 0.00001
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met) rs774937055 0.00001
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln) rs1057517802 0.00001
NM_001171.6(ABCC6):c.3507-1G>A rs72664210 0.00001
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys) rs1471249688 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His) rs28989182 0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799 0.00001
NM_002185.5(IL7R):c.83-2A>T rs886060531 0.00001
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp) rs1270099780 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His) rs80338827 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117 0.00001
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) rs587784330 0.00001
NM_003721.4(RFXANK):c.438+5G>A rs1196984337 0.00001
NM_003748.4(ALDH4A1):c.139C>T (p.Arg47Ter) rs756807746 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser) rs201865375 0.00001
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met) rs267606918 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr) rs1424516740 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006182.4(DDR2):c.2255G>A (p.Arg752His) rs1374086542 0.00001
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) rs782269909 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_013328.4(PYCR2):c.40G>C (p.Ala14Pro) rs1210762206 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp) rs387907310 0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867 0.00001
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412 0.00001
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter) rs550032922 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 0.00001
NM_020631.6(PLEKHG5):c.1132-2A>C rs1557742277 0.00001
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln) rs387906960 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451 0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val) rs532178791 0.00001
NM_031448.6(C19orf12):c.161-2del rs1352744778 0.00001
NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu) rs201987973 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_052813.5(CARD9):c.865C>T (p.Gln289Ter) rs398122363 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys) rs397509419 0.00001
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter) rs753873681 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr) rs121909591 0.00001
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys) rs753505066 0.00001
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr) rs727503821 0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter) rs151275562 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187 0.00001
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr) rs63751024
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro) rs2091707324
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter) rs2150593157
NM_000044.6(AR):c.1846C>T (p.Arg616Cys) rs1555990485
NM_000044.6(AR):c.2710G>T (p.Val904Leu) rs2147540656
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser) rs1555119899
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7629+1G>A rs1565532703
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8687A>C (p.Gln2896Pro) rs2089494486
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp) rs797045350
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000071.3(CBS):c.862G>A (p.Ala288Thr) rs141502207
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000080.4(CHRNE):c.452_454del (p.Glu151del) rs2151098283
NM_000081.4(LYST):c.7460+3_7460+6del
NM_000088.4(COL1A1):c.3028G>A (p.Gly1010Ser) rs72653169
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile) rs72667022
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp) rs779489401
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.5(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer) rs766425037
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) rs2039260856
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.7204+1G>A rs1555394557
NM_000138.5(FBN1):c.8226+1G>A rs398122833
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000146.4(FTL):c.485_489dup (p.Glu164fs) rs2122436225
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile) rs750431739
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000155.4(GALT):c.957C>G (p.His319Gln) rs111033792
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp) rs121917712
NM_000169.3(GLA):c.717A>G (p.Ile239Met) rs1928192530
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) rs998842815
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000218.3(KCNQ1):c.556G>A (p.Gly186Ser) rs199473398
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys) rs57536312
NM_000232.5(SGCB):c.346A>G (p.Met116Val) rs752168132
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000271.5(NPC1):c.3591+2dup rs2145342749
NM_000277.3(PAH):c.1065+1G>T rs62516147
NM_000277.3(PAH):c.439C>T (p.Pro147Ser) rs199475624
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.527G>A (p.Arg176Gln) rs74486803
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.676C>A (p.Gln226Lys) rs62508696
NM_000277.3(PAH):c.969+1G>A rs62508584
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn) rs747097960
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter) rs201440361
NM_000303.3(PMM2):c.639+1G>A rs1057517183
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro) rs151319324
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg) rs1597607651
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) rs104893765
NM_000310.4(PPT1):c.362+5G>A rs796052924
NM_000310.4(PPT1):c.433+1G>A rs1553167415
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1451-1G>A rs1317871521
NM_000330.4(RS1):c.349C>T (p.Gln117Ter) rs199469696
NM_000340.2(SLC2A2):c.589G>C (p.Val197Leu) rs121909741
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu) rs567478582
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys) rs768831308
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000359.3(TGM1):c.400T>C (p.Tyr134His) rs1230140208
NM_000359.3(TGM1):c.984+1G>A rs749160734
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.664-15A>G rs118203422
NM_000371.4(TTR):c.425T>C (p.Val142Ala) rs2144414426
NM_000380.4(XPA):c.389+1G>A rs1554701931
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter) rs1555533754
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000416.3(IFNGR1):c.653_655del (p.Glu218del) rs587776858
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000452.3(SLC10A2):c.318C>A (p.Cys106Ter)
NM_000459.5(TEK):c.1490-1G>A rs1380793724
NM_000459.5(TEK):c.154dup (p.His52fs) rs2131119729
NM_000459.5(TEK):c.3165C>A (p.Tyr1055Ter) rs1826003461
NM_000459.5(TEK):c.3251C>G (p.Ser1084Ter) rs2131266023
NM_000459.5(TEK):c.470_471insTGGT (p.Lys157fs) rs2131141182
NM_000459.5(TEK):c.857G>T (p.Gly286Val) rs2131150099
NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu) rs121909191
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del) rs768940499
NM_000481.4(AMT):c.311G>A (p.Gly104Glu) rs753221440
NM_000481.4(AMT):c.970_972del (p.Met324del) rs386833691
NM_000487.6(ARSA):c.1282_1283dup (p.Leu429fs)
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser) rs199476342
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1766+3A>C rs397508298
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.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.143T>C (p.Val48Ala) rs191519947
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000528.4(MAN2B1):c.1109+1G>C rs2024027294
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala) rs1052979420
NM_000539.3(RHO):c.281C>T (p.Thr94Ile) rs104893796
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000548.5(TSC2):c.2197C>G (p.Leu733Val) rs397515163
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000558.5(HBA1):c.328del (p.Leu110fs) rs281864535
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs) rs1553186613
NM_000738.3(CHRM1):c.1274T>C (p.Phe425Ser) rs2135039016
NM_000875.5(IGF1R):c.3530G>A (p.Arg1177His) rs1596476159
NM_000875.5(IGF1R):c.361G>A (p.Glu121Lys) rs1555434208
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000977.4(RPL13):c.548G>A (p.Arg183His) rs1597676540
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.787_808del (p.Val263fs) rs754365623
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) rs104894164
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter) rs2125501418
NM_001003787.4(STRADA):c.792T>A (p.Ser264Arg) rs1057519011
NM_001005273.3(CHD3):c.2656C>T (p.His886Tyr) rs2151569587
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His) rs2111857835
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001017420.3(ESCO2):c.955+2_955+5del rs80359858
NM_001029896.2(WDR45):c.827+1G>T rs1557083958
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040716.2(PC):c.908del (p.Gly303fs)
NM_001042424.3(NSD2):c.1348C>T (p.Arg450Ter) rs2108805626
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp) rs386833731
NM_001042492.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro) rs886052798
NM_001042492.3(NF1):c.1738del (p.Tyr580fs) rs786204255
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys) rs199474778
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.4520del (p.Leu1507fs) rs2151464729
NM_001042492.3(NF1):c.4558C>T (p.Gln1520Ter) rs1060500242
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro) rs2151470213
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg) rs2069606635
NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter) rs2151554939
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter) rs1555608970
NM_001042492.3(NF1):c.819_821del (p.Leu274del) rs2143786045
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter) rs2146029786
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001069.3(TUBB2A):c.5G>A (p.Arg2His) rs1581499166
NM_001077350.3(NPRL3):c.1559dup (p.Arg521fs) rs2141895084
NM_001079668.3(NKX2-1):c.464-9C>A
NM_001080.3(ALDH5A1):c.1343+1del rs1561879386
NM_001080517.3(SETD5):c.2168T>A (p.Leu723Ter)
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys) rs2144406630
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys) rs1571893814
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys) rs1554329216
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127392.3(MYRF):c.789del (p.Ser264fs) rs769274302
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys) rs886039429
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001164508.2(NEB):c.20158-6A>G rs1553715636
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe) rs1696401617
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met) rs1574006637
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val) rs2105889854
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter) rs1555314211
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr) rs886059849
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg) rs796052811
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs) rs778390089
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001320.7(CSNK2B):c.292-2A>G rs1802000298
NM_001320.7(CSNK2B):c.560T>G (p.Leu187Arg) rs1802055133
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=) rs1227093654
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter) rs1567528092
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter) rs775370485
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu) rs137853025
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn) rs1568763104
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_001611.5(ACP5):c.772_790del (p.Ser258fs) rs878853218
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His) rs1555666392
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr) rs1553518389
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) rs797044569
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr) rs80356677
NM_002529.4(NTRK1):c.2046dup (p.Val683fs) rs2102925337
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002730.4(PRKACA):c.409G>A (p.Gly137Arg) rs148280386
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs) rs1555211286
NM_002971.6(SATB1):c.1574A>G (p.Gln525Arg) rs1695858904
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His) rs1057517666
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys) rs1057518414
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003094.4(SNRPE):c.1A>G (p.Met1Val) rs587776924
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.2102A>C (p.His701Pro)
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu) rs780475918
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003477.3(PDHX):c.557del (p.Pro186fs)
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) rs1943085639
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003551.3(NME5):c.572G>A (p.Trp191Ter)
NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp) rs1235695530
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe) rs386833823
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) rs587776497
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004373.4(COX6A1):c.247-7_247-3del rs587777783
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004465.2(FGF10):c.577C>T (p.Arg193Ter) rs104893884
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs) rs1559369237
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs) rs386833903
NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys) rs2140159368
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) rs121913535
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr) rs1881803464
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter) rs104894516
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg) rs2143629984
NM_005445.4(SMC3):c.1942A>G (p.Met648Val) rs886041239
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro) rs372079931
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) rs760571406
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu) rs1565962725
NM_005797.4(MPZL2):c.68del (p.Pro23fs)
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg) rs1057517991
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr) rs1056919085
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) rs797044960
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs) rs1554995341
NM_006035.4(CDC42BPB):c.2599C>T (p.Arg867Cys) rs1595472764
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) rs1057521924
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006129.5(BMP1):c.747C>G (p.Phe249Leu) rs398122891
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr) rs1724674149
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006236.3(POU3F3):c.1220G>T (p.Arg407Leu) rs1573320988
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) rs2075652085
NM_006364.4(SEC23A):c.1795G>A (p.Glu599Lys) rs2139193533
NM_006494.4(ERF):c.256C>T (p.Arg86Cys) rs587777008
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) rs770084716
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter) rs1555465891
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter) rs587784444
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter) rs140609531
NM_006852.6(TLK2):c.1550+1G>A rs2147105351
NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys) rs2115201389
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa) rs397515368
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007192.4(SUPT16H):c.2200C>T (p.Arg734Trp) rs2139399670
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln) rs1554770044
NM_007327.4(GRIN1):c.1921A>G (p.Met641Val) rs2131299136
NM_012186.3(FOXE3):c.289A>G (p.Ile97Val) rs774505755
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs) rs80358295
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) rs80358303
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter) rs1597461100
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs) rs1794916576
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter) rs766777011
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His) rs863225094
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014268.4(MAPRE2):c.427C>T (p.Arg143Cys) rs864309720
NM_014423.4(AFF4):c.773G>A (p.Arg258Gln) rs2150098310
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln) rs1555731980
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser) rs2148753950
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter) rs2071226510
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015443.4(KANSL1):c.2542-1G>A rs111514883
NM_015958.3(DPH5):c.779A>G (p.His260Arg)
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_016188.5(ACTL6B):c.1027G>T (p.Gly343Trp)
NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg) rs2131330754
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_016648.4(LARP7):c.297_303+2del rs2149262033
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.7164+1G>A rs2129644267
NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter) rs2127741566
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018116.4(MSTO1):c.1259del (p.Gly420fs) rs1248439783
NM_018230.3(NUP133):c.691C>G (p.Arg231Gly) rs1558108130
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr) rs770740586
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys) rs1808862287
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser) rs1178528306
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs) rs748993388
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020401.4(NUP107):c.469G>T (p.Asp157Tyr) rs864321633
NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter) rs769399833
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1]) rs1398218251
NM_020719.3(PRR12):c.3625C>T (p.Arg1209Ter) rs2122304074
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) rs111033573
NM_021939.4(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) rs1060499790
NM_022336.4(EDAR):c.719_722del (p.Lys240fs) rs797044436
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys) rs2127263139
NM_022464.5(SIL1):c.1030-18G>A
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter) rs2076017638
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) rs28937905
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr) rs121918217
NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs) rs771237928
NM_024577.4(SH3TC2):c.3676-8G>A rs772823083
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024665.7(TBL1XR1):c.970T>G (p.Ser324Ala) rs2108437312
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.6999+1G>A rs1191614292
NM_030954.4(RNF170):c.304T>C (p.Cys102Arg) rs1183403793
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031443.4(CCM2):c.472+1G>C rs745710633
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) rs515726204
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032581.4(HYCC1):c.722T>G (p.Leu241Ter) rs2128200575
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032861.4(SERAC1):c.1167_1170del rs772296795
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu) rs104886102
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) rs2147759208
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_052867.4(NALCN):c.1639A>G (p.Met547Val) rs1057519432
NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val) rs1555381108
NM_052867.4(NALCN):c.537del (p.Ile178_Trp179insTer) rs1594759803
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln) rs1017711925
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) rs121918264
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp) rs753688777
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145331.3(MAP3K7):c.1535C>T (p.Pro512Leu) rs886039230
NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg) rs118203981
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter) rs1930251154
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys) rs28940314
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly) rs761167763
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_181426.2(CCDC39):c.2190del (p.Glu731fs) rs587778820
NM_181882.3(PRX):c.3098del (p.Thr1033fs) rs2145727241
NM_182476.3(COQ6):c.189_191del (p.Lys64del) rs746839544
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)
NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg) rs397514515
NM_198239.2(CCN6):c.246del (p.Glu84fs) rs797044438
NM_198239.2(CCN6):c.740_741del (p.Cys247fs) rs727503755
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) rs121909715
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_205861.3(DHDDS):c.110G>A (p.Arg37His) rs1553121073
NM_206933.4(USH2A):c.10585+1G>A rs2102763351
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter) rs1441358067
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
m.13042G>A rs267606898

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