ClinVar Miner

Variants from Genetics and Molecular Pathology, SA Pathology with conflicting interpretations

Location: Australia  Primary collection method: clinical testing
Minimum review status of the submission from Genetics and Molecular Pathology, SA Pathology: Collection method of the submission from Genetics and Molecular Pathology, SA Pathology:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
906 501 2 341 85 1 85 455

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
Genetics and Molecular Pathology, SA Pathology pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 2 151 21 2 0 1
likely pathogenic 150 0 33 0 0 0
uncertain significance 16 22 0 40 27 0
likely benign 1 0 14 0 22 0
benign 1 0 13 18 0 0

Submitter to submitter summary #

Total submitters: 206
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
Labcorp Genetics (formerly Invitae), Labcorp 0 236 1 49 32 0 10 92
OMIM 0 177 0 47 1 0 10 58
Illumina Laboratory Services, Illumina 0 75 0 19 17 0 5 41
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 110 0 32 2 0 3 37
Baylor Genetics 0 165 0 30 0 0 6 36
Counsyl 0 77 0 26 3 0 5 34
Fulgent Genetics, Fulgent Genetics 0 95 0 28 0 0 4 32
Myriad Genetics, Inc. 0 91 0 20 11 0 0 31
Mendelics 0 61 0 15 6 0 6 27
Revvity Omics, Revvity 0 85 0 19 2 0 4 25
Natera, Inc. 0 84 0 23 1 0 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 120 0 22 0 0 2 24
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 37 0 13 1 0 6 20
Genome-Nilou Lab 0 52 0 10 3 0 4 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 42 0 12 3 0 0 15
MGZ Medical Genetics Center 0 66 0 12 0 0 2 14
3billion 0 97 0 9 0 0 2 11
All of Us Research Program, National Institutes of Health 0 36 0 7 1 0 2 10
Genomics England Pilot Project, Genomics England 0 13 0 10 0 0 0 10
NIHR Bioresource Rare Diseases, University of Cambridge 0 12 0 9 0 0 1 10
Neuberg Centre For Genomic Medicine, NCGM 0 38 0 7 0 0 3 10
Sharing Clinical Reports Project (SCRP) 0 27 0 5 1 0 4 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 27 0 5 0 0 4 9
Variantyx, Inc. 0 62 0 8 0 0 1 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 46 0 5 2 0 1 8
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 19 0 6 0 0 2 8
Institute of Human Genetics, University of Leipzig Medical Center 0 81 0 6 0 0 2 8
Breast Cancer Information Core (BIC) (BRCA1) 0 13 0 0 4 0 3 7
Johns Hopkins Genomics, Johns Hopkins University 0 21 0 2 2 0 3 7
Breast Cancer Information Core (BIC) (BRCA2) 0 24 0 0 3 0 3 6
Dasa 0 22 0 6 0 0 0 6
Color Diagnostics, LLC DBA Color Health 0 16 0 2 2 0 1 5
Department of Human Genetics, Hannover Medical School 0 21 0 5 0 0 0 5
Institute of Human Genetics Munich, TUM University Hospital 0 31 0 5 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 30 0 5 0 0 0 5
LDLR-LOVD, British Heart Foundation 0 8 0 5 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 25 0 5 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 45 0 5 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 0 4 0 1 5
Robarts Research Institute, Western University 0 2 0 5 0 0 0 5
Ambry Genetics 0 9 0 3 0 0 1 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 15 0 1 0 0 3 4
CSER _CC_NCGL, University of Washington 0 4 0 0 2 0 2 4
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 0 3 0 3 1 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 14 0 4 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 23 0 2 0 0 2 4
Geisinger Clinic, Geisinger Health System 0 2 0 3 0 0 1 4
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 2 0 3 0 0 1 4
Genetic Services Laboratory, University of Chicago 0 24 0 3 1 0 0 4
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 6 0 3 1 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 11 0 4 0 0 0 4
Molecular Pathology, Peter Maccallum Cancer Centre 0 31 0 4 0 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 18 0 2 1 0 1 4
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 0 3 0 0 1 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 2 0 3 0 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 8 0 1 2 0 0 3
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 4 0 3 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 9 0 3 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 11 0 2 0 0 1 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 7 0 2 0 0 1 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 12 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 22 0 2 1 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 8 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 11 0 2 0 0 1 3
Iberoamerican FH Network 0 1 0 3 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 17 1 2 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 20 0 3 0 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 3 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 20 0 2 1 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 28 0 3 0 0 0 3
Medical and Scientific Branch, Hong Kong Genome Institute 0 4 0 3 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 0 10 0 2 0 0 1 3
Solve-RD Consortium 0 0 0 3 0 0 0 3
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 4 0 3 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 10 0 2 1 0 0 3
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 0 10 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 7 0 1 0 0 1 2
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 6 0 2 0 0 0 2
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 2 0 2 0 0 0 2
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 2 0 0 2 0 0 2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 1 0 1 2
Department of Medical and Surgical Sciences, University of Bologna 0 0 0 0 2 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 14 0 2 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 0 0 0 0 2 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 5 0 2 0 0 0 2
Fundacion Hipercolesterolemia Familiar 0 0 0 2 0 0 0 2
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 2 0 1 0 0 1 2
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 4 0 0 1 0 1 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 16 0 2 0 0 0 2
GenomeConnect - Simons Searchlight 0 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 6 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 30 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 22 0 2 0 0 0 2
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 2 2
Intergen Genetics and Rare Diseases Diagnosis Center 0 3 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 17 0 1 0 0 1 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 3 0 2 0 0 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 2 0 0 0 2
Laboratory of Hematology, Radboud University Medical Center 0 4 0 1 0 0 1 2
Leiden Open Variation Database 0 4 0 2 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 2 0 1 1 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 2 0 1 0 0 1 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 2 0 0 0 2
OLLIN Analises Genomicas, OLLIN 0 10 0 0 0 0 2 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 5 0 1 0 0 1 2
Pathway Genomics 0 6 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 24 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 1 0 0 1 2
Suma Genomics 0 5 0 1 0 0 1 2
UCLA Clinical Genomics Center, UCLA 0 4 0 1 0 0 1 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 12 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 7 0 1 0 0 1 2
deCODE genetics, Amgen 0 2 0 2 0 0 0 2
Arcensus 0 1 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 5 0 1 0 0 0 1
Blueprint Genetics 0 7 0 0 0 0 1 1
Breakthrough Genomics, Breakthrough Genomics 0 2 0 0 1 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 17 0 1 0 0 0 1
CFTR-France 0 1 0 1 0 0 0 1
CFTR2 0 1 0 0 0 0 1 1
CIViC Knowledgebase, Washington University School of Medicine 0 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 2 0 0 1 0 0 1
Center for Bone Health, The Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 4 0 0 1 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 1 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 6 0 1 0 0 0 1
Centre for Human Genetics, University of Kinshasa 0 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 3 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 2 0 1 0 0 0 1
Claritas Genomics 0 0 0 1 0 0 0 1
ClinGen Antibody Deficiencies Variant Curation Expert Panel, ClinGen 0 0 0 0 1 0 0 1
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 0 6 0 1 0 0 0 1
ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
ClinGen Monogenic Diabetes Variant Curation Expert Panel 0 0 0 1 0 0 0 1
ClinGen Potassium Channel Arrhythmia Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
ClinGen VHL Variant Curation Expert Panel, ClinGen 0 0 0 0 1 0 0 1
ClinGen von Willebrand Disease Variant Curation Expert Panel, ClinGen 0 2 0 0 1 0 0 1
ClinPGx 0 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 26 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 30 0 1 0 0 0 1
Dan Cohn Lab, University Of California Los Angeles 0 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 5 0 0 0 0 1 1
Department of Medical Genetics, Oslo University Hospital 0 8 0 1 0 0 0 1
Department of Medical Genetics, University Hospital of North Norway 0 3 0 1 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 1 0 0 0 1
Department of Precision Medicine, Korea National Institute of Health 0 0 0 0 0 0 1 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 0 1 0 0 0 1
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 0 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 13 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 2 0 0 1 0 0 1
GeneDx 0 5 0 0 1 0 0 1
GenePathDx, GenePath diagnostics 0 0 0 1 0 0 0 1
Genesis Genomics 0 3 0 1 0 0 0 1
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine 0 11 0 1 0 0 0 1
Genetic Foundation of Khorasan Razavi (GFKR) 0 1 0 1 0 0 0 1
Genetics Department, Catlab 0 2 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 4 0 1 0 0 0 1
Genologica Medica 0 6 0 1 0 0 0 1
Genomenon, Inc, Genomenon, Inc 0 5 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 4 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 1 0 0 0 1
Giacomini Lab, University of California, San Francisco 0 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 0 0 0 0 0 0 1 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 0 1 0 0 0 1
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 0 0 0 1 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 2 0 1 0 0 0 1
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 0 1 0 0 0 1
Institute for Human Genetics, University Hospital Essen 0 1 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 8 0 0 0 0 1 1
Institute of Human Genetics, Medical University Innsbruck 0 4 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 14 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 6 0 1 0 0 0 1
King Laboratory, University of Washington 0 0 0 0 0 0 1 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 1 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 0 0 0 1 1
Laboratory of Medical Genetics, University of Torino 0 1 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 7 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 0 1
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 0 2 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 0 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 1 0 0 0 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Otogenetics 0 4 0 1 0 0 0 1
Pars Genome Lab 0 0 0 0 0 0 1 1
Precision Medicine Center, Zhengzhou University 0 0 0 0 0 0 1 1
PreventionGenetics, part of Exact Sciences 0 3 0 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 0 1 0 0 0 1
Rare Disease Genomics Group, St George's University of London 0 2 0 1 0 0 0 1
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 0 0 1 0 0 0 1
Sema4, Sema4 0 1 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 0 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
Tumer Group, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 0 1
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 0 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 2 0 1 0 0 0 1
Yong Wu Laboratory, Medical Research Institute, Shenzhen Baoan Women’s and Children’s Hospital 0 0 0 1 0 0 0 1
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 455
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16948
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06828
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02788
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01412
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00490
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00449
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_014915.3(ANKRD26):c.4445T>C (p.Ile1482Thr) rs80097260 0.00437
NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln) rs113448164 0.00384
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_000369.5(TSHR):c.881+3A>G rs186091357 0.00357
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00340
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln) rs143192349 0.00328
NM_023036.6(DNAI2):c.468-4G>T rs146462823 0.00321
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00299
NM_153614.4(DNAJB13):c.671G>A (p.Arg224His) rs147921001 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00291
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00262
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00249
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375 0.00227
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00219
NM_198576.4(AGRN):c.1394C>T (p.Pro465Leu) rs116586548 0.00214
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00204
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00184
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00178
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00164
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly) rs121908854 0.00163
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00161
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00151
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00151
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00147
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_014915.3(ANKRD26):c.2170A>C (p.Ser724Arg) rs141748831 0.00136
NM_018076.5(ODAD2):c.883G>C (p.Val295Leu) rs143215183 0.00128
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_019616.4(F7):c.785G>A (p.Arg262Gln) rs77121822 0.00118
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00108
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00105
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00087
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00086
NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly) rs150629342 0.00079
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00070
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00070
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000433.4(NCF2):c.1179-4C>G rs55795842 0.00066
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00063
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00062
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs) rs772106076 0.00053
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00050
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00047
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00042
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp) rs201201843 0.00038
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00033
NM_004371.4(COPA):c.2531G>A (p.Gly844Asp) rs143115096 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00027
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00025
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00023
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585 0.00022
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00021
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00021
NM_014915.3(ANKRD26):c.3G>A (p.Met1Ile) rs199683454 0.00020
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00019
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00018
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00018
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00016
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00015
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00012
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00011
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00010
NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp) rs542331667 0.00010
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 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_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00008
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00007
NM_001364171.2(ODAD1):c.1502+5G>A rs201133219 0.00007
NM_031220.4(PITPNM3):c.287G>A (p.Arg96Gln) rs199749069 0.00007
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=) rs148263909 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00006
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00005
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) rs137852765 0.00005
NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu) rs752477959 0.00005
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927 0.00004
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 0.00004
NM_000517.6(HBA2):c.143del (p.Asp48fs) rs281864539 0.00004
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp) rs28941776 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_000059.4(BRCA2):c.750G>A (p.Val250=) rs143214959 0.00003
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) rs776613953 0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_005026.5(PIK3CD):c.1470+15C>T rs375880685 0.00003
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00003
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00003
NM_020166.5(MCCC1):c.684dup (p.Glu229fs) rs773583869 0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=) rs188258913 0.00003
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572 0.00002
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln) rs782143050 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000146.4(FTL):c.89C>T (p.Thr30Ile) rs397514540 0.00002
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln) rs375468032 0.00002
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys) rs761353188 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val) rs199506378 0.00002
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) rs758657734 0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_032444.4(SLX4):c.4739+7G>A rs748897456 0.00002
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389 0.00001
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg) rs80358417 0.00001
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp) rs574039421 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.909T>G (p.Ser303=) rs757430441 0.00001
NM_000071.3(CBS):c.667-14C>G rs1388184910 0.00001
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala) rs751649145 0.00001
NM_000128.4(F11):c.965C>T (p.Thr322Ile) rs281875269 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys) rs137852237 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000186.4(CFH):c.496C>T (p.Arg166Trp) rs746222626 0.00001
NM_000251.3(MSH2):c.1270C>T (p.His424Tyr) rs587782278 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000312.4(PROC):c.962C>T (p.Pro321Leu) rs1321566264 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp) rs121909571 0.00001
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly) rs879254415 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566 0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_003482.4(KMT2D):c.9490C>T (p.Arg3164Trp) rs772446794 0.00001
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401 0.00001
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys) rs201327438 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_007194.4(CHEK2):c.444+4G>A rs1434760802 0.00001
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter) rs759960319 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.443G>A (p.Arg148His) rs375134790 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) rs119103220 0.00001
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) rs142103232 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_025150.5(TARS2):c.695+3A>G rs587777594 0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) rs777002501
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr) rs1085307428
NM_000020.3(ACVRL1):c.286A>G (p.Asn96Asp) rs2139065803
NM_000020.3(ACVRL1):c.625+1G>A rs1940767034
NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer) rs2519612464
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000059.4(BRCA2):c.-39-12_-39-10del rs276174798
NM_000059.4(BRCA2):c.67+1G>C rs81002796
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg) rs276174923
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser) rs199907548
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs) rs932032926
NM_000088.4(COL1A1):c.1811del (p.Pro604fs) rs2509209539
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val) rs2153502692
NM_000111.3(SLC26A3):c.571-1G>T rs386833485
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
NM_000132.4(F8):c.335C>T (p.Ser112Phe) rs2073620915
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.878T>C (p.Ile293Thr) rs2128820046
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) rs193922340
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) rs121908062
NM_000179.3(MSH6):c.3104G>A (p.Arg1035Gln) rs730881801
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro) rs267608122
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) rs1455698449
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000264.5(PTCH1):c.1729-11del rs779000277
NM_000268.4(NF2):c.1193T>C (p.Leu398Pro) rs2147082680
NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg) rs199422209
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser) rs121917744
NM_000350.3(ABCA4):c.6386+1G>A rs745654673
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000369.5(TSHR):c.1358T>C (p.Met453Thr) rs121908864
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His) rs774242947
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) rs137852329
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000451.4(SHOX):c.877T>C (p.Ter293Arg) rs137852559
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000517.6(HBA2):c.*93_*94del rs63751268
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter) rs551747280
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000535.7(PMS2):c.903+1G>C rs1554300689
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) rs765432081
NM_000546.6(TP53):c.695T>A (p.Ile232Asn) rs587781589
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp) rs1596288578
NM_000551.4(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264
NM_000969.5(RPL5):c.3+1G>A rs2524440268
NM_001001548.3(CD36):c.332_333del (p.Thr111fs) rs572295823
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001042492.3(NF1):c.1527+1G>C rs1060500331
NM_001042492.3(NF1):c.1845G>A (p.Lys615=) rs1131691080
NM_001042492.3(NF1):c.3113+1G>T rs267606599
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys) rs751904277
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.-127C>T rs1060501408
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter) rs1555314116
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001321075.3(DLG4):c.642G>A (p.Ala214=) rs2142883774
NM_001348716.2(KDM6B):c.3046dup (p.Arg1016fs) rs2151378140
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) rs770083296
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001372.4(DNAH9):c.308dup (p.Leu104fs) rs769795916
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val) rs1971438573
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe) rs886039568
NM_001481.3(DRC4):c.245G>A (p.Arg82Gln) rs884928
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu) rs1751115198
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn) rs104894808
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002585.4(PBX1):c.700C>T (p.Arg234Trp) rs1218945005
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter) rs2143450145
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs) rs1555196984
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln) rs1057519634
NM_003839.4(TNFRSF11A):c.46_63dup (p.Leu16_Leu21dup) rs879253796
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser) rs1064794963
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006767.4(LZTR1):c.1353+1G>T rs1170363408
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr) rs562861748
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg) rs1747667518
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) rs1248967885
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4357+6T>C rs80358143
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_012079.6(DGAT1):c.629_631del (p.Ser210del) rs782577883
NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys) rs1567537304
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_014270.5(SLC7A9):c.120G>A (p.Val40=) rs140179068
NM_014915.3(ANKRD26):c.-118C>T rs1589393759
NM_014915.3(ANKRD26):c.-134G>A rs863223318
NM_014946.4(SPAST):c.1616+1G>A rs1553319327
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser) rs1557737087
NM_017654.4(SAMD9):c.2414A>G (p.Asp805Gly) rs2535358325
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr) rs1554944271
NM_021095.4(SLC5A6):c.422_423del (p.Val141fs) rs749980819
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter) rs2151665554
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3351-7C>T rs2142255767
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp) rs2093132159
NM_033380.3(COL4A5):c.3016+1G>A rs104886377
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_144687.4(NLRP12):c.2056_2057dup (p.Leu687fs) rs1327772058
NM_152419.3(HGSNAT):c.1708del (p.Thr570fs) rs1804782152
NM_152515.5(CKAP2L):c.501del (p.Asn167fs) rs2104884982
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu) rs587777782
NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu) rs1064795110
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) rs2062427908
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.