ClinVar Miner

Variants from Centre for Mendelian Genomics, University Medical Centre Ljubljana with conflicting interpretations

Location: Slovenia  Primary collection method: clinical testing
Minimum review status of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana: Collection method of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana:
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
2919 651 7 306 131 14 139 546

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
Centre for Mendelian Genomics, University Medical Centre Ljubljana pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele likely risk allele pathogenic, low penetrance risk factor other
pathogenic 3 136 25 1 1 0 1 1 1 1 1 4 0
likely pathogenic 137 4 41 4 3 1 0 1 0 0 0 2 0
uncertain significance 56 37 0 81 45 0 0 0 0 0 1 1 1
likely benign 1 0 13 0 14 0 0 0 0 0 0 0 0
benign 0 0 9 26 0 0 0 0 0 0 0 0 0
risk factor 1 0 1 1 1 0 0 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 196
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 0 330 0 80 76 5 29 190
OMIM 0 149 0 44 0 6 27 77
Illumina Laboratory Services, Illumina 0 104 0 20 23 0 14 57
Baylor Genetics 0 162 0 41 4 0 11 56
GeneDx 0 91 0 22 9 2 14 47
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 70 0 21 7 1 10 39
Counsyl 0 54 0 32 2 0 3 37
Revvity Omics, Revvity 0 87 0 21 1 1 12 35
CeGaT Center for Human Genetics Tuebingen 0 52 0 17 5 2 11 35
Mendelics 0 47 0 14 8 0 10 32
Institute of Human Genetics, University of Leipzig Medical Center 0 61 0 14 1 1 12 28
Natera, Inc. 0 83 0 15 5 0 4 24
PreventionGenetics, part of Exact Sciences 0 28 0 9 9 2 2 22
Genome-Nilou Lab 0 109 0 16 4 0 2 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 34 0 9 8 2 2 21
Myriad Genetics, Inc. 0 69 0 17 3 0 1 21
Fulgent Genetics, Fulgent Genetics 0 107 0 17 0 0 2 19
Eurofins Ntd Llc (ga) 0 32 0 7 2 3 4 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 16 0 6 1 0 9 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 32 0 6 4 2 3 15
MGZ Medical Genetics Center 0 53 0 12 0 0 3 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 21 0 9 3 0 2 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 36 0 6 3 0 3 12
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 27 0 10 0 0 2 12
Genetic Services Laboratory, University of Chicago 0 39 0 7 2 0 2 11
Mayo Clinic Laboratories, Mayo Clinic 0 15 0 4 1 2 4 11
3billion 0 44 0 9 0 0 2 11
Genomics England Pilot Project, Genomics England 0 3 0 7 0 0 4 11
Athena Diagnostics Inc 0 19 0 6 2 0 2 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 19 0 10 0 0 0 10
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 18 0 5 0 1 3 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 16 0 3 3 1 2 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 27 0 6 0 0 3 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 37 0 3 3 1 2 9
Genetics and Molecular Pathology, SA Pathology 0 29 0 5 0 0 3 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 25 0 4 1 1 2 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 13 0 7 0 0 1 8
AiLife Diagnostics, AiLife Diagnostics 0 3 0 4 0 1 3 8
Molecular Genetics, Royal Melbourne Hospital 0 4 0 5 0 0 3 8
Ambry Genetics 0 12 0 2 3 1 1 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 12 0 5 0 0 2 7
Neuberg Centre For Genomic Medicine, NCGM 0 21 0 7 0 0 0 7
GeneReviews 0 71 3 2 0 0 1 6
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 3 3 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 9 0 4 0 0 2 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 9 0 1 0 0 4 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4095 16 0 4 0 0 1 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 15 0 5 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 10 0 3 1 1 0 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 9 0 4 0 0 1 5
DASA 0 16 0 5 0 0 0 5
Clinical Genetics, Academic Medical Center 0 6 0 1 2 0 1 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 2 0 3 0 1 0 4
Sharing Clinical Reports Project (SCRP) 0 11 0 3 0 0 1 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 14 0 2 1 0 1 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 2 0 1 2 0 1 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 8 0 3 0 0 1 4
SIB Swiss Institute of Bioinformatics 0 5 0 2 0 0 2 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 20 0 2 0 1 1 4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 5 0 1 2 0 1 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 4 0 2 0 0 2 4
Centogene AG - the Rare Disease Company 0 11 0 3 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 6 0 1 2 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 3 0 2 0 0 1 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 2 0 0 1 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 5 0 3 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 0 3 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 4 0 1 0 0 2 3
Daryl Scott Lab, Baylor College of Medicine 0 7 0 2 0 0 1 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 7 0 1 1 0 1 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 9 0 2 0 0 1 3
Johns Hopkins Genomics, Johns Hopkins University 0 11 0 3 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 0 4 0 2 0 0 1 3
Institute of Human Genetics, University Hospital Muenster 0 5 0 0 1 0 2 3
New York Genome Center 0 17 0 3 0 0 0 3
Paris Brain Institute, Inserm - ICM 0 5 0 2 0 0 1 3
All of Us Research Program, National Institutes of Health 0 19 0 1 0 0 2 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 3 0 2 0 0 0 2
Blueprint Genetics 0 9 0 2 0 0 0 2
LDLR-LOVD, British Heart Foundation 0 0 0 2 0 0 0 2
Breast Cancer Information Core (BIC) (BRCA2) 0 7 0 0 1 0 1 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 1 0 0 1 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 10 0 2 0 0 0 2
Medical Genetics, University of Parma 0 8 0 0 1 0 1 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 7 0 0 0 0 2 2
Undiagnosed Diseases Network, NIH 0 2 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 5 0 0 1 0 1 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 1 0 0 1 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 6 0 1 0 0 1 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 35 0 2 0 0 0 2
Gharavi Laboratory, Columbia University 0 1 0 2 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 1 0 0 1 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 0 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 5 0 1 0 0 1 2
Clinical Genomics Program, Stanford Medicine 0 5 0 2 0 0 0 2
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 1 0 2 0 0 0 2
Pars Genome Lab 0 1 0 1 0 0 1 2
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 0 2 0 0 0 2
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 1 0 2 0 0 0 2
Department of Medical and Surgical Sciences, University of Bologna 0 0 0 1 0 0 1 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 5 0 1 0 1 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 12 0 1 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 11 0 1 0 0 0 1
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 2 0 0 1 0 0 1
Collagen Diagnostic Laboratory, University of Washington 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 2 0 1 0 0 0 1
Medical Genomics Laboratory, Department of Genetics UAB 0 2 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 1 1
Institute of Human Genetics, Cologne University 0 2 0 1 0 0 0 1
Michigan Medical Genetics Laboratories, University of Michigan 0 7 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 5 0 1 0 0 0 1
Sema4, Sema4 0 2 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 0 0 0 1 1
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 1 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 18 0 1 0 0 0 1
Shanghain Institute for Pediatric Research 0 0 0 1 0 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 1 0 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 9 0 0 0 0 1 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 0 0 0 0 0 1 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 6 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 3 0 0 0 0 1 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 5 0 0 0 0 1 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Neurogenetics of motion laboratory, Montreal Neurological Institute 0 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 4 0 1 0 0 0 1
UW Hindbrain Malformation Research Program, University of Washington 0 7 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 7 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 6 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 1 0 0 0 1
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 0 0 0 0 1 1
Color Diagnostics, LLC DBA Color Health 0 3 0 0 1 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Neurology Department, Peking University First Hospital 0 0 0 0 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 10 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 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
Yale Center for Mendelian Genomics, Yale University 0 1 0 1 0 0 0 1
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 2 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 1 0 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 1 0 1 0 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
ClinGen PAH Variant Curation Expert Panel 0 5 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 3 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1 1
Breda Genetics srl 0 1 0 1 0 0 0 1
Institute of Reproductive Genetics, University of Münster 0 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 1 0 0 1
deCODE genetics, Amgen 0 2 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 1 0 0 0 1
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski 0 0 0 0 0 0 1 1
Savagenome Genetic Health Clinic, Tarbiat Modares University 0 0 0 0 1 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 0 1 0 0 0 1
Research Centre for Medical Genetics, Federal State Budgetary Scientific Institution 0 0 0 1 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 0 0 0 0 0 0 1 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 0 1 0 0 0 1
Cardiology unit, Meyer University Hospital 0 0 0 0 0 0 1 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 0 0 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 4 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 3 0 1 0 0 0 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 3 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 0 0 0 1 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 0 1 0 0 0 1
H3Africa Consortium 0 0 0 0 1 0 0 1
Fatma Al Jasmi Lab, United Arab Emirates University 0 0 0 1 0 0 0 1
Eurofins-Biomnis 0 2 0 1 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 0 1 0 0 0 1
Arcensus 0 0 0 1 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 1 0 0 0 1
St. Anna Children's Cancer Research Institute (CCRI) 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Molecular Genetic Pathology Unit, University Of Rochester Medical Center 0 0 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 546
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg) rs351855 0.26099
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_016335.6(PRODH):c.1292G>A (p.Arg431His) rs2904552 0.06735
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_000271.5(NPC1):c.1947+17T>G rs879174633 0.02464
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) rs2276973 0.00877
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_176811.2(NLRP8):c.142G>A (p.Val48Met) rs61738689 0.00793
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_022787.4(NMNAT1):c.115+3A>G rs181504239 0.00447
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00354
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val) rs201715229 0.00258
NM_173728.4(ARHGEF15):c.1250G>T (p.Arg417Leu) rs142119277 0.00258
NM_001256545.2(MEGF10):c.218+17C>G rs72786483 0.00257
NM_014210.4(EVI2A):c.527A>G (p.Gln176Arg) rs144778786 0.00252
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00237
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_005051.3(QARS1):c.117+17C>T rs202012811 0.00167
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
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_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_001845.6(COL4A1):c.904-9C>T rs201481886 0.00116
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_198578.4(LRRK2):c.3777+7C>T rs41286480 0.00097
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_005529.7(HSPG2):c.958+14G>A rs200930800 0.00092
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg) rs144517772 0.00088
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_002471.4(MYH6):c.2807C>T (p.Ala936Val) rs199838024 0.00067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
NM_000532.5(PCCB):c.763+10C>G rs180982841 0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) rs150785666 0.00050
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464 0.00035
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln) rs148099152 0.00031
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_198173.3(GRHL3):c.205-3C>A rs200425622 0.00031
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr) rs374500158 0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_198578.4(LRRK2):c.4536+3A>G rs41286476 0.00027
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn) rs138379977 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_001202.6(BMP4):c.272C>G (p.Ser91Cys) rs121912767 0.00018
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319 0.00016
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163 0.00015
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00012
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_001330078.2(NRXN1):c.772+1040A>T rs201741449 0.00011
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro) rs372174278 0.00009
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr) rs191985301 0.00008
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_018706.7(DHTKD1):c.718-5A>G rs374421488 0.00007
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs) rs772578397 0.00007
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619 0.00006
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000531.6(OTC):c.1005+11A>T rs375524303 0.00005
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile) rs201992075 0.00005
NM_002282.3(KRT83):c.828G>A (p.Met276Ile) rs200274404 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000465.4(BARD1):c.1678-18C>G rs376045331 0.00004
NM_001374353.1(GLI2):c.413C>T (p.Thr138Met) rs148317983 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_006950.3(SYN1):c.435+10G>A rs771547188 0.00004
NM_015559.3(SETBP1):c.4160C>T (p.Thr1387Met) rs200881888 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_182914.3(SYNE2):c.10432-17T>G rs376299946 0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) rs771903291 0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000067.3(CA2):c.472A>G (p.Lys158Glu) rs145667849 0.00003
NM_000094.4(COL7A1):c.2045G>A (p.Arg682Gln) rs772900092 0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr) rs779993828 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg) rs755962512 0.00003
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr) rs200889338 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 0.00003
NM_001371596.2(MFSD8):c.754+2T>A rs587778809 0.00003
NM_001931.5(DLAT):c.976-1G>A rs367875541 0.00003
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp) rs139853969 0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125 0.00003
NM_018418.5(SPATA7):c.373-15A>G rs781587897 0.00003
NM_020247.5(COQ8A):c.812G>A (p.Arg271His) rs765859566 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284 0.00003
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) rs756210458 0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) rs782240483 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met) rs1005844306 0.00002
NM_001379500.1(COL18A1):c.3028G>A (p.Gly1010Ser) rs1057518766 0.00002
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met) rs1057518968 0.00002
NM_002591.4(PCK1):c.961+1G>A rs776767788 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu) rs374517178 0.00002
NM_004484.4(GPC3):c.733C>A (p.His245Asn) rs199778216 0.00002
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864 0.00002
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met) rs764618040 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_013275.6(ANKRD11):c.301G>A (p.Gly101Arg) rs1373571533 0.00002
NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr) rs200093133 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_033163.5(FGF8):c.451G>A (p.Gly151Ser) rs606231407 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) rs779593707 0.00001
NM_000091.5(COL4A3):c.2746+17C>T rs765408537 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met) rs766762599 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys) rs780351691 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000270.4(PNP):c.265G>A (p.Glu89Lys) rs104894453 0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714 0.00001
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe) rs1215262242 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000478.6(ALPL):c.1182dup (p.Ile395fs) rs754826836 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.997+2T>A rs1057517391 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000548.5(TSC2):c.886G>A (p.Val296Met) rs747237113 0.00001
NM_000628.5(IL10RB):c.647-14A>C rs45526732 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val) rs745906742 0.00001
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg) rs587778552 0.00001
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn) rs1557178278 0.00001
NM_001134363.3(RBM20):c.3301G>A (p.Glu1101Lys) rs959605686 0.00001
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001365536.1(SCN9A):c.377+5C>T rs200972952 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His) rs80338827 0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) rs138996609 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003072.5(SMARCA4):c.2439-12T>G rs1462368992 0.00001
NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu) rs776242478 0.00001
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met) rs542970560 0.00001
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp) rs1211983012 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012120.3(CD2AP):c.764dup (p.Ser256fs) rs776297606 0.00001
NM_013275.6(ANKRD11):c.3467G>A (p.Arg1156Gln) rs775910970 0.00001
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs) rs397514545 0.00001
NM_015166.4(MLC1):c.423+1G>A rs752428321 0.00001
NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys) rs376233499 0.00001
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp) rs1329129099 0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) rs121908359 0.00001
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys) rs62625277 0.00001
NM_024757.5(EHMT1):c.592G>A (p.Val198Ile) rs761554206 0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_054012.4(ASS1):c.174+1G>T rs748264993 0.00001
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His) rs1026697162 0.00001
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-CO3):m.9804G>A rs200613617
NC_012920.1:m.9185T>C rs199476138
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000043.6(FAS):c.536T>G (p.Leu179Arg) rs1554851718
NM_000051.4(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000053.4(ATP7B):c.2356-16del rs1257703465
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000081.4(LYST):c.11038+11T>C
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000092.5(COL4A4):c.736-4del rs750699545
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000169.3(GLA):c.815A>G (p.Asn272Ser) rs28935495
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs) rs1817555980
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3647-1G>A rs587779279
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000249.4(MLH1):c.1039-1G>T
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter) rs2059213874
NM_000271.5(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) rs121908552
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter) rs2106076340
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000520.6(HEXA):c.460-19C>T rs1680245631
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
NM_000527.5(LDLR):c.1705+1G>T rs875989926
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000535.7(PMS2):c.2007-2A>G rs587782336
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys) rs1057518940
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys) rs374292194
NM_001005242.3(PKP2):c.2168-11dup rs746936605
NM_001005373.4(LRSAM1):c.175-2A>T rs1035054313
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001029.5(RPS26):c.224_225del (p.Val75fs) rs1555208596
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg) rs1402571360
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr) rs148409389
NM_001040142.2(SCN2A):c.5485C>T (p.Leu1829Phe) rs1553463676
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.2252-3T>G rs1057518842
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp) rs1597629882
NM_001042492.3(NF1):c.479+5G>T rs1567818033
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111125.3(IQSEC2):c.1402-15dup rs781861463
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=) rs2074317922
NM_001122764.3(PPOX):c.1281G>A (p.Trp427Ter) rs1057518798
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro) rs1977160529
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001161352.2(KCNMA1):c.3697G>A (p.Glu1233Lys) rs779739159
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter) rs397514552
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001199799.2(ILDR1):c.745del (p.Ser249fs) rs571007078
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001271.4(CHD2):c.692+10A>G rs370469675
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001371596.2(MFSD8):c.1350+2T>C rs1736332381
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del) rs530256606
NM_001372.4(DNAH9):c.308dup (p.Leu104fs) rs769795916
NM_001376.5(DYNC1H1):c.10693A>G (p.Ser3565Gly) rs2048546542
NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met) rs750249796
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001848.3(COL6A1):c.814G>A (p.Gly272Ser) rs398123640
NM_001943.5(DSG2):c.803_810dup (p.Val271fs) rs2073149649
NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile) rs587776978
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003072.5(SMARCA4):c.1944-12C>A rs149763341
NM_003072.5(SMARCA4):c.4171-1861A>G rs771462690
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003482.4(KMT2D):c.1912C>G (p.Pro638Ala) rs372919446
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.6607A>T (p.Thr2203Ser) rs1943505364
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004333.6(BRAF):c.755G>C (p.Arg252Pro) rs1325951163
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser) rs1057518966
NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter) rs1554055106
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_006950.3(SYN1):c.1982+10C>A rs752321936
NM_007194.4(CHEK2):c.683+2T>C rs781021132
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter) rs1694125419
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs) rs1794916576
NM_014795.4(ZEB2):c.593-18_593-17insTG rs776927209
NM_014946.4(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.4(SPAST):c.519A>G (p.Arg173=) rs1677627735
NM_015488.5(PNKD):c.26C>T (p.Ala9Val) rs121434511
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly) rs868107005
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018122.5(DARS2):c.228-21_228-20delinsC rs1553201258
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_020708.5(SLC12A5):c.1689-7G>A rs2084595386
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.2383C>G (p.Gln795Glu) rs1966856854
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter) rs1474604202
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val) rs1057518874
NM_025137.4(SPG11):c.7152-6A>G rs2082233766
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_031307.4(PUS3):c.366_367del (p.Ala123fs) rs1944570170
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu) rs2034823903
NM_054027.6(ANKH):c.1124_1126del (p.Ser375del) rs121908406
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup) rs531550505
NM_144666.3(DNHD1):c.10717G>T (p.Glu3573Ter) rs763743788
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu) rs202126574
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152594.3(SPRED1):c.1A>G (p.Met1Val) rs1894017295
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln) rs387907050
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys) rs2063220897
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter) rs1665282478
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp) rs775556188
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu) rs139474806

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.