ClinVar Miner

Variants from CSER_CC_NCGL; University of Washington Medical Center with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from CSER_CC_NCGL; University of Washington Medical Center: Collection method of the submission from CSER_CC_NCGL; University of Washington Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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

Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
87 203 28 158 344 16 155 520

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
CSER_CC_NCGL; University of Washington Medical Center pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other
pathogenic 1 12 2 0 0 3 2 2
likely pathogenic 35 0 16 4 3 0 1 2
uncertain significance 70 60 19 204 92 1 1 2
likely benign 25 21 134 6 108 0 1 2
benign 1 0 1 4 2 0 0 0

Submitter to submitter summary #

Total submitters: 117
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Invitae 0 273 0 102 176 1 40 319
Ambry Genetics 0 193 0 69 127 0 21 217
GeneDx 0 266 0 48 131 0 37 216
Color 0 144 0 37 112 0 15 164
Integrated Genetics/Laboratory Corporation of America 0 107 0 37 70 0 13 120
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 184 0 22 73 0 15 110
Biesecker Lab/Human Development Section,National Institutes of Health 0 31 25 15 51 0 1 91
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 83 0 22 34 3 9 68
OMIM 0 12 0 13 5 10 36 63
PreventionGenetics 0 72 0 17 36 0 9 62
Illumina Clinical Services Laboratory,Illumina 0 78 0 8 43 0 14 62
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 47 0 22 24 0 4 50
Counsyl 0 75 0 16 26 0 3 45
Department of Pathology and Laboratory Medicine,Sinai Health System 0 26 0 23 20 0 0 43
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 8 0 22 12 0 0 34
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 3 0 8 2 0 20 30
LDLR-LOVD, British Heart Foundation 0 10 0 2 10 0 15 27
Sharing Clinical Reports Project (SCRP) 0 20 0 22 4 0 0 26
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 31 0 11 14 0 0 25
Quest Diagnostics Nichols Institute San Juan Capistrano 0 49 0 7 15 0 3 25
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 41 0 6 10 0 9 25
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 19 0 15 9 0 1 25
Genetic Services Laboratory, University of Chicago 0 35 0 3 16 0 4 23
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 24 0 10 10 0 2 22
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 23 0 18 4 0 0 22
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 18 0 13 7 0 1 21
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 21 0 7 10 0 3 20
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 25 1 6 13 0 0 20
Breast Cancer Information Core (BIC) (BRCA2) 0 13 0 6 13 0 0 19
Michigan Medical Genetics Laboratories,University of Michigan 0 6 0 13 5 0 0 18
Blueprint Genetics, 0 22 0 3 10 0 4 17
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 2 0 4 1 0 12 17
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 6 0 2 7 0 8 17
Breast Cancer Information Core (BIC) (BRCA1) 0 18 0 4 11 0 1 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 18 0 1 13 0 2 16
Mendelics 0 36 0 3 9 0 3 15
Fulgent Genetics 0 45 0 4 7 0 4 15
Athena Diagnostics Inc 0 4 0 5 6 0 2 13
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 12 0 2 0 1 10 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 21 0 1 9 0 3 13
University of Washington Department of Laboratory Medicine,University of Washington 0 14 0 2 7 0 3 12
GeneReviews 0 3 1 1 1 0 8 11
Pathway Genomics 0 8 0 4 4 0 2 10
GeneKor MSA 0 16 0 2 5 0 3 10
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 23 0 3 6 0 1 10
True Health Diagnostics 0 29 0 3 7 0 0 10
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 13 0 1 3 0 5 9
Robarts Research Institute,Western University 0 5 0 3 0 0 6 9
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 2 0 1 2 0 6 9
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 2 0 5 4 0 0 9
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 4 0 1 0 0 7 8
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 11 0 1 4 0 3 8
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 10 0 2 6 0 0 8
Baylor Miraca Genetics Laboratories, 0 6 0 4 1 0 2 7
Vantari Genetics 0 5 0 4 3 0 0 7
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 3 0 1 3 0 3 7
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 8 0 3 2 0 1 6
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 8 0 1 2 0 3 6
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 3 0 0 5 0 1 6
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 9 0 1 1 0 4 6
Iberoamerican FH Network 0 3 0 1 3 0 2 6
ClinGen CDH1 Variant Curation Expert Panel 0 0 0 2 3 0 1 6
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 2 1 0 2 5
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 5 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 0 0 4 0 1 5
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 14 0 1 4 0 0 5
Database of Curated Mutations (DoCM) 0 1 0 1 0 0 4 5
ARUP Institute,ARUP Laboratories 0 6 1 1 1 0 2 5
Fundacion Hipercolesterolemia Familiar 0 10 0 1 2 0 2 5
Center for Human Genetics, Inc 0 14 0 0 4 0 0 4
PharmGKB 0 0 0 0 0 4 0 4
Center for Medical Genetics Ghent,University of Ghent 0 3 0 0 4 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 0 3 0 1 4
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 0 2 0 2 0 0 2 4
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 4 0 1 1 0 2 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 5 0 2 0 0 1 3
HudsonAlpha Institute for Biotechnology 0 5 0 2 0 0 1 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 7 0 0 0 0 3 3
Department of Pathology and Molecular Medicine,Queen's University 0 4 0 0 3 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 3 0 0 3 0 0 3
Familial Cancer Clinic,Veneto Institute of Oncology 0 0 0 0 0 0 2 2
GenMed Metabolism Lab 0 0 0 0 0 0 2 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 0 0 1 0 1 2
CSER_CC_NCGL; University of Washington Medical Center 800 8 0 1 1 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 3 0 1 0 0 1 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 14 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 3 0 0 0 0 2 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 0 0 0 0 0 2 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 1 0 1 2
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 1 0 1 0 0 1 2
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 6 0 1 0 0 1 2
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 0 0 0 2 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 5 0 2 0 0 0 2
ClinGen PAH Variant Curation Expert Panel, 0 1 0 0 1 0 1 2
Gharavi Laboratory,Columbia University 0 5 0 1 1 0 0 2
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 3 0 1 0 0 1 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 0 0 0 0 0 1 1
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 0 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics,University of Washington 0 2 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 1 0 0 0 1
Russ Altman Lab,Stanford University 0 0 0 0 0 1 0 1
Center for Human Genetics,University of Leuven 0 8 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 2 0 1 0 0 0 1
Department of Medical Genetics,University Hospital of North Norway 0 1 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 1 0 0 0 1
Section on Medical Neuroendocrinolgy,National Institutes of Health 0 0 0 0 0 0 1 1
Molecular Oncology Laboratory,Hospital Clínico San Carlos 0 0 0 0 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 2 0 0 0 0 1 1
Medical & Molecular Genetics Group,University of Lincoln 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 3 0 0 1 0 0 1
Tampere Brain Tumor Research Consortium,University of Tampere 0 0 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 0 0 0 1 1
3DMed Clinical Laboratory Inc 0 2 0 0 1 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 520
Download table as spreadsheet
HGVS dbSNP
NM_000020.2(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000038.5(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.5(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.5(APC):c.2847G>T (p.Met949Ile) rs147394539
NM_000038.5(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.5(APC):c.3479C>A (p.Thr1160Lys) rs201004111
NM_000038.5(APC):c.388A>G (p.Ser130Gly) rs150973053
NM_000038.5(APC):c.4237A>G (p.Met1413Val) rs141519952
NM_000038.5(APC):c.4336G>A (p.Ala1446Thr) rs146572883
NM_000038.5(APC):c.4360A>G (p.Lys1454Glu) rs111866410
NM_000038.5(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.5(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.5(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.5(APC):c.5140G>A (p.Asp1714Asn) rs148275069
NM_000038.5(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.5(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.5(APC):c.6985A>G (p.Ile2329Val) rs146048493
NM_000038.5(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000038.5(APC):c.7717A>G (p.Ile2573Val) rs145444830
NM_000038.5(APC):c.7778A>G (p.Asn2593Ser) rs367676584
NM_000038.5(APC):c.8266A>G (p.Ile2756Val) rs146115809
NM_000038.5(APC):c.8383G>A (p.Ala2795Thr) rs369264968
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) rs587776547
NM_000053.3(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.3(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.3(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000057.3(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.3(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000059.3(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.3(BRCA2):c.1763A>G (p.Asn588Ser) rs373400041
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.2461G>A (p.Val821Ile) rs756411508
NM_000059.3(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548
NM_000059.3(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.5855T>A (p.Leu1952Ter) rs375064902
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.742G>A (p.Ala248Thr) rs55854959
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.3(BRCA2):c.8111C>T (p.Ser2704Phe) rs80359054
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076
NM_000059.3(BRCA2):c.9006A>T (p.Glu3002Asp) rs80359153
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.9353T>C (p.Met3118Thr) rs56204128
NM_000059.3(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000069.2(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.2(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.2(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.2(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.2(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000109.3(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000109.3(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.3(DMD):c.7547G>A (p.Arg2516His) rs151244052
NM_000109.3(DMD):c.9658T>C (p.Phe3220Leu) rs141392048
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.596G>A (p.Arg199His) rs548424658
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.1345G>A (p.Val449Ile) rs139058991
NM_000138.4(FBN1):c.2927G>A (p.Arg976His) rs140954477
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837
NM_000138.4(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000161.2(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.2(GCH1):c.610G>A (p.Val204Ile) rs200891969
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.991C>T (p.Leu331Phe) rs730880437
NM_000179.2(MSH6):c.1403G>A (p.Arg468His) rs41295268
NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.2(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.2(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.59C>T (p.Ala20Val) rs63750664
NM_000179.2(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.1799C>T (p.Thr600Met) rs34516117
NM_000218.2(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322
NM_000218.2(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.2(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000218.2(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737
NM_000219.5(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.5(KCNE1):c.29C>T (p.Thr10Met) rs144917638
NM_000219.5(KCNE1):c.374C>T (p.Thr125Met) rs142511345
NM_000222.2(KIT):c.532G>A (p.Ala178Thr) rs115585711
NM_000222.2(KIT):c.821C>T (p.Thr274Met) rs138585275
NM_000222.2(KIT):c.952A>G (p.Met318Val) rs143388949
NM_000238.3(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.3(KCNH2):c.2131A>G (p.Ile711Val) rs199473532
NM_000238.3(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512
NM_000238.3(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207
NM_000238.3(KCNH2):c.2660G>A (p.Arg887His) rs199473432
NM_000238.3(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375
NM_000238.3(KCNH2):c.3203A>G (p.Gln1068Arg) rs151031345
NM_000238.3(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.3(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.3(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) rs143329068
NM_000245.3(MET):c.71G>A (p.Gly24Glu) rs180985111
NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1637A>G (p.Lys546Arg) rs587779954
NM_000249.3(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.1964T>C (p.Ile655Thr) rs63751225
NM_000249.3(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.3(MLH1):c.2252A>G (p.Lys751Arg) rs140195825
NM_000249.3(MLH1):c.803A>G (p.Glu268Gly) rs63750650
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.2(MSH2):c.1418C>T (p.Ser473Leu) rs63751403
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) rs201118107
NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.2(MSH2):c.2437A>G (p.Met813Val) rs63749841
NM_000251.2(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.2(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.2(MSH2):c.471C>A (p.Gly157=) rs61756463
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000251.2(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.2(MSH2):c.913G>A (p.Ala305Thr) rs63751454
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052
NM_000256.3(MYBPC3):c.1370C>T (p.Thr457Met) rs370538243
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000256.3(MYBPC3):c.26-2A>G rs376395543
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548
NM_000256.3(MYBPC3):c.3049G>A (p.Glu1017Lys) rs368180702
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973
NM_000257.3(MYH7):c.115G>A (p.Val39Met) rs376160714
NM_000257.3(MYH7):c.2183C>T (p.Ala728Val) rs121913644
NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.3(MYH7):c.5305C>A (p.Leu1769Met) rs139222507
NM_000257.3(MYH7):c.5561C>T (p.Thr1854Met) rs372381770
NM_000257.3(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000257.3(MYH7):c.976G>C (p.Ala326Pro) rs372731424
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000258.2(MYL3):c.235G>A (p.Val79Ile) rs150634297
NM_000264.3(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275
NM_000264.3(PTCH1):c.395-1G>A rs368869806
NM_000264.4(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000312.3(PROC):c.565C>T (p.Arg189Trp) rs146922325
NM_000312.3(PROC):c.631C>T (p.Arg211Trp) rs121918143
NM_000313.3(PROS1):c.1528G>A (p.Val510Met) rs138925964
NM_000313.3(PROS1):c.1762A>G (p.Thr588Ala) rs142846443
NM_000313.3(PROS1):c.698G>A (p.Arg233Lys) rs41267007
NM_000335.4(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111
NM_000335.4(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339
NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.4(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.4(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031
NM_000335.4(SCN5A):c.4591G>A (p.Val1531Ile) rs199473618
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.5474G>A (p.Arg1825His) rs137854610
NM_000335.4(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942
NM_000335.4(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.4(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331
NM_000335.4(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) rs45471994
NM_000363.4(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000363.4(TNNI3):c.586G>A (p.Asp196Asn) rs104894727
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
NM_000364.3(TNNT2):c.753G>T (p.Glu251Asp) rs45466197
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000384.2(APOB):c.11362G>A (p.Glu3788Lys) rs13306191
NM_000384.2(APOB):c.1648G>C (p.Asp550His) rs145862664
NM_000384.2(APOB):c.7285T>A (p.Ser2429Thr) rs72653092
NM_000432.3(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000455.4(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.4(STK11):c.971C>T (p.Pro324Leu) rs367807476
NM_000488.3(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548
NM_000488.3(SERPINC1):c.1256C>T (p.Ala419Val) rs121909568
NM_000488.3(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551
NM_000488.3(SERPINC1):c.236G>A (p.Arg79His) rs121909552
NM_000488.3(SERPINC1):c.482G>A (p.Arg161Gln) rs121909563
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) rs370471092
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.1166C>T (p.Thr389Met) rs149227308
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.1359-1G>A rs139617694
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1837G>A (p.Val613Ile) rs148181903
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.232C>T (p.Arg78Cys) rs370860696
NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.859G>A (p.Gly287Ser) rs375495026
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(LDLR):c.967G>A (p.Gly323Ser) rs373869746
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000531.5(OTC):c.140A>C (p.Asn47Thr) rs67939655
NM_000531.5(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000535.5(PMS2):c.1144+1G>A rs373885654
NM_000535.6(PMS2):c.1096G>C (p.Asp366His) rs141769057
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.6(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.6(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.11518G>A (p.Val3840Ile) rs140616359
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.14524G>A rs193922879
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.2(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586
NM_000540.2(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.2(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.2797G>A (p.Ala933Thr) rs148623597
NM_000540.2(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095
NM_000540.2(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.6961A>G (p.Ile2321Val) rs34390345
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.2(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000540.2(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934
NM_000540.2(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634
NM_000546.5(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.5(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_000546.5(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000548.3(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.4(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.4(TSC2):c.1574A>G (p.Asn525Ser) rs45457694
NM_000548.4(TSC2):c.167A>G (p.Asn56Ser) rs144165984
NM_000548.4(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.4(TSC2):c.223G>A (p.Glu75Lys) rs145470784
NM_000548.4(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.4(TSC2):c.2521G>A (p.Val841Ile) rs549612492
NM_000548.4(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.4(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.4(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.4(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.4(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000551.3(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.3(VHL):c.235C>T (p.Arg79Cys) rs200885420
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000719.6(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.6(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.6(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896
NM_000719.6(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660
NM_000724.3(CACNB2):c.1346C>T (p.Thr449Ile) rs143326262
NM_000724.3(CACNB2):c.1426C>T (p.Arg476Cys) rs202152674
NM_000724.3(CACNB2):c.1611C>A (p.Asp537Glu) rs144182966
NM_000724.3(CACNB2):c.215C>T (p.Ala72Val) rs200367454
NM_000724.3(CACNB2):c.425C>T (p.Ser142Phe) rs150528041
NM_000724.3(CACNB2):c.476G>C (p.Ser159Thr) rs149253719
NM_000891.2(KCNJ2):c.277G>A (p.Val93Ile) rs147750704
NM_000891.2(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052
NM_001001430.2(TNNT2):c.857G>A (p.Arg286His) rs141121678
NM_001005242.2(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_001005242.2(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001024847.2(TGFBR2):c.1732T>A (p.Ser578Thr) rs112215250
NM_001035.2(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.2(RYR2):c.7493C>T (p.Ala2498Val) rs374191985
NM_001035.2(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134
NM_001040108.1(MLH3):c.2449A>G (p.Ser817Gly) rs143278116
NM_001040108.1(MLH3):c.3440A>T (p.Asn1147Ile) rs142124529
NM_001040113.1(MYH11):c.2026C>T (p.Arg676Cys) rs111404182
NM_001040113.1(MYH11):c.5294G>A (p.Arg1765Gln) rs142546324
NM_001040113.1(MYH11):c.760C>T (p.Arg254Cys) rs150759461
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001128425.1(MUTYH):c.1258C>A (p.Leu420Met) rs144079536
NM_001134363.2(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.2(RBM20):c.680G>T (p.Gly227Val) rs202238753
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001256849.1(POLD1):c.17G>A (p.Arg6Gln) rs778275831
NM_001943.4(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.4(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.4(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.4(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.4(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_001943.4(DSG2):c.706A>G (p.Thr236Ala) rs727502985
NM_002354.2(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002354.2(EPCAM):c.426-1G>A rs373597944
NM_002474.2(MYH11):c.3652-6C>T rs193922630
NM_002474.2(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224
NM_002691.3(POLD1):c.433G>A (p.Ala145Thr) rs137953986
NM_002734.4(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303
NM_003000.2(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.79C>G (p.Arg27Gly) rs74315369
NM_003001.3(SDHC):c.*84G>C rs201210474
NM_003239.4(TGFB3):c.293C>T (p.Ser98Leu) rs142047577
NM_003242.5(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_004004.5(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004006.2(DMD):c.1812+1G>A rs373286166
NM_004006.2(DMD):c.2245A>G (p.Ile749Val) rs771803281
NM_004006.2(DMD):c.3406A>T (p.Thr1136Ser) rs3827462
NM_004329.2(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590
NM_004415.2(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.2(DSP):c.2422C>T (p.Arg808Cys) rs150339369
NM_004415.2(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.2(DSP):c.5513G>A (p.Arg1838His) rs377715841
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004415.3(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004415.3(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004415.3(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.3(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004655.3(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607
NM_004655.3(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857
NM_004949.4(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_004949.4(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_004949.4(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_005359.5(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005431.1(XRCC2):c.620A>G (p.Glu207Gly) rs61762969
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.3(BRCA1):c.1511G>A (p.Arg504His) rs56272539
NM_007294.3(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.3(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.3(BRCA1):c.1907G>A (p.Cys636Tyr) rs398122649
NM_007294.3(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.3(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250
NM_007294.3(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.3(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.3(BRCA1):c.3022A>G (p.Met1008Val) rs56321129
NM_007294.3(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673
NM_007294.3(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.3(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.3(BRCA1):c.4468G>T (p.Glu1490Ter) rs138608489
NM_007294.3(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747
NM_007294.3(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278
NM_007294.3(BRCA1):c.4882A>G (p.Met1628Val) rs80357465
NM_007294.3(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.3(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087
NM_007294.3(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.3(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.3(BRCA1):c.594-2A>C rs80358033
NM_007294.3(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007294.3(BRCA1):c.811G>A (p.Val271Met) rs80357244
NM_014270.4(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_016203.3(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_017849.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_020630.4(RET):c.1996A>G (p.Lys666Glu) rs143795581
NM_020630.4(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_020630.4(RET):c.2081G>A (p.Arg694Gln) rs141185224
NM_020630.4(RET):c.3116C>T (p.Pro1039Leu) rs79853121
NM_020630.4(RET):c.539G>A (p.Arg180Gln) rs370736139
NM_020630.5(RET):c.1942G>A (p.Val648Ile) rs77711105
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.4(RET):c.1531G>A (p.Glu511Lys) rs201553718
NM_020975.4(RET):c.166C>A (p.Leu56Met) rs145633958
NM_020975.4(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_020975.4(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.4(RET):c.785T>C (p.Val262Ala) rs139790943
NM_024422.4(DSC2):c.663T>A (p.Tyr221Ter) rs145476705
NM_024529.4(CDC73):c.1066+8T>C rs80356647
NM_053025.3(MYLK):c.2533C>T (p.Arg845Cys) rs3732485
NM_053025.3(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_130799.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_144997.5(FLCN):c.715C>T (p.Arg239Cys) rs78683075
NM_144997.6(FLCN):c.1523A>G (p.Lys508Arg) rs199643834
NM_170707.3(LMNA):c.1303C>T (p.Arg435Cys) rs150840924
NM_170707.3(LMNA):c.1580G>A (p.Arg527His) rs57520892
NM_170707.3(LMNA):c.1804G>A (p.Gly602Ser) rs60662302
NM_170707.3(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.3(LMNA):c.1931G>A (p.Arg644His) rs368386019
NM_170707.3(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.3(LMNA):c.895A>G (p.Ile299Val) rs150924946
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) rs74315447
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_172201.1(KCNE2):c.40G>A (p.Val14Ile) rs142153692
NM_174936.3(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312
NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp) rs148195424
NM_198056.2(SCN5A):c.3878T>C (p.Phe1293Ser) rs41311127

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