ClinVar Miner

Variants from Clinical Genetics and Genomics, Karolinska University Hospital with conflicting interpretations

Location: Sweden  Primary collection method: clinical testing
Minimum review status of the submission from Clinical Genetics and Genomics, Karolinska University Hospital: Collection method of the submission from Clinical Genetics and Genomics, Karolinska University Hospital:
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
516 389 5 208 7 11 81 279

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
Clinical Genetics and Genomics, Karolinska University Hospital pathogenic likely pathogenic uncertain significance likely benign benign association drug response other
pathogenic 5 97 36 3 2 1 5 4
likely pathogenic 111 0 41 3 0 0 1 0
uncertain significance 1 2 0 4 5 0 0 0
likely benign 0 0 2 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 96
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
GeneDx 0 333 0 80 5 0 17 102
CeGaT Center for Human Genetics Tuebingen 0 162 0 41 1 0 7 49
Labcorp Genetics (formerly Invitae), Labcorp 0 116 0 29 2 0 14 45
PreventionGenetics, part of Exact Sciences 0 117 0 27 2 0 8 37
Eurofins Ntd Llc (ga) 0 89 0 26 1 0 8 35
Revvity Omics, Revvity 0 147 0 26 0 0 5 31
Mayo Clinic Laboratories, Mayo Clinic 0 121 0 20 3 0 7 30
Quest Diagnostics Nichols Institute San Juan Capistrano 0 183 0 20 0 0 8 28
Clinical Genetics Laboratory, Skane University Hospital Lund 0 141 0 21 0 0 1 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 28 0 4 4 0 14 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 144 0 10 3 0 3 16
Athena Diagnostics 0 29 0 14 1 0 1 16
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 99 0 14 0 0 2 16
Department of Pathology and Laboratory Medicine, Sinai Health System 0 28 0 3 0 0 11 14
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 108 0 8 0 0 5 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 64 0 9 0 0 4 13
Dasa 0 45 0 13 0 0 0 13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 68 0 11 0 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 32 0 6 0 0 3 9
Clinical Genetics, Academic Medical Center 0 8 0 7 0 0 1 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 52 0 5 0 0 3 8
OMIM 0 39 1 3 0 4 0 8
Fulgent Genetics, Fulgent Genetics 0 31 0 6 0 0 1 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 25 0 5 0 0 2 7
Ambry Genetics 0 7 0 6 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 36 0 3 0 0 3 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 21 0 4 0 0 2 6
All of Us Research Program, National Institutes of Health 0 1 0 0 0 0 5 5
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 36 0 4 0 0 1 5
ClinPGx 0 0 0 0 0 5 0 5
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 36 0 5 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 13 0 4 0 0 1 5
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 49 0 5 0 0 0 5
3billion 0 9 0 2 0 0 2 4
AiLife Diagnostics, AiLife Diagnostics 0 14 0 4 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 1 0 0 3 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 20 0 3 0 0 1 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 19 0 3 1 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 4 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 12 0 0 0 0 4 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 7 0 2 0 0 1 3
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 31 0 2 0 0 1 3
Color Diagnostics, LLC DBA Color Health 0 1 0 0 0 0 3 3
Illumina Laboratory Services, Illumina 0 13 0 2 1 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 3 0 2 0 0 1 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 7 0 2 0 0 1 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 29 0 2 0 0 1 3
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 0 1 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 19 0 3 0 0 0 3
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 10 0 0 0 0 2 2
Centre of Medical Genetics, University Hospital Muenster 0 4 0 2 0 0 0 2
Counsyl 0 2 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 12 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 4 0 2 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 2 0 2 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 4 0 2 0 0 0 2
NHS Central & South Genomic Laboratory Hub 0 19 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 1 0 2
Baylor Genetics 0 6 0 0 0 0 1 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 0 0 0 1 1
Blueprint Genetics 0 17 0 1 0 0 0 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 0 1 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 7 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 3 0 1 0 0 0 1
Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 19 0 0 0 0 1 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 1 0 0 0 1
Genetics of Obesity Study, University of Cambridge 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 1 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 1 0 0 0 1
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 16 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 3 0 1 0 0 0 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 4 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 1 0 0 0 1
KK Women’s and Children’s Hospital 0 0 0 1 0 0 0 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 2 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 0 1
Myriad Genetics, Inc. 0 2 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
New York Genome Center 0 1 0 1 0 0 0 1
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 1 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 1 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 2 0 0 0 0 1 1
Variantyx, Inc. 0 3 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 5 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 279
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_000451.4(SHOX):c.-55C>T rs772910213 0.00401
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00293
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
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_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00076
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00056
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) rs141686175 0.00047
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00041
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074 0.00038
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00021
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548 0.00016
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00013
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter) rs201663789 0.00012
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817 0.00007
NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln) rs727502811 0.00006
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg) rs397508272 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_001163435.3(TBCK):c.382-2A>G rs903296221 0.00005
NM_001375405.1(CEP120):c.2917C>T (p.Arg973Ter) rs201560025 0.00005
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_001277115.2(DNAH11):c.13288G>A (p.Gly4430Arg) rs1275074212 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00003
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857 0.00003
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_000546.6(TP53):c.509C>T (p.Thr170Met) rs779000871 0.00003
NM_001852.4(COL9A2):c.186G>A (p.Pro62=) rs1085307973 0.00003
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) rs137854445 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_005787.6(ALG3):c.349C>T (p.Arg117Ter) rs753238253 0.00003
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300 0.00002
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys) rs747068278 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00001
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940 0.00001
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn) rs1554299737 0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) rs12530380 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_001015880.2(PAPSS2):c.712C>T (p.Arg238Ter) rs541008862 0.00001
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001360.3(DHCR7):c.1215C>G (p.His405Gln) rs776577137 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001369.3(DNAH5):c.2432-3A>G rs1773163926 0.00001
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020 0.00001
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser) rs1085307471 0.00001
NM_002381.5(MATN3):c.359C>T (p.Thr120Met) rs397515546 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys) rs1455568421 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln) rs151344523 0.00001
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter) rs755978559 0.00001
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_014694.4(ADAMTSL2):c.475C>T (p.Arg159Trp) rs776178041 0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser) rs1178528306 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451 0.00001
NM_130810.4(DNAAF4):c.733C>T (p.Arg245Ter) rs748440695 0.00001
NM_144997.7(FLCN):c.764A>C (p.His255Pro) rs879255665 0.00001
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs) rs80359304
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) rs1057519826
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.4(COL1A1):c.805-1G>A rs1598298699
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) rs1601054715
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys) rs119103290
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.5387G>T (p.Gly1796Val) rs2043240309
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000142.5(FGFR3):c.1663G>C (p.Val555Leu) rs1474187970
NM_000153.4(GALC):c.293dup (p.Leu98fs) rs757799254
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs) rs587779120
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.347_350del (p.Asp116fs) rs63750501
NM_000260.4(MYO7A):c.4715T>C (p.Leu1572Pro) rs1956925123
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) rs201175894
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000451.4(SHOX):c.728del (p.Pro243fs) rs757845999
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000500.9(CYP21A2):c.1444C>T (p.Gln482Ter) rs1776323909
NM_000500.9(CYP21A2):c.421G>A (p.Glu141Lys) rs774422392
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) rs201552310
NM_000516.7(GNAS):c.494G>A (p.Arg165His) rs2090976265
NM_000516.7(GNAS):c.499_501del (p.Asn167del) rs2090976492
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.794G>A (p.Arg265His) rs2146285582
NM_000518.4(HBB):c.25A>G (p.Lys9Glu) rs33926764
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000540.3(RYR1):c.4435C>T (p.Gln1479Ter) rs1968813234
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.330del (p.Leu111fs)
NM_000546.6(TP53):c.365_366del (p.Val122fs) rs587780067
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000548.5(TSC2):c.1019T>C (p.Leu340Pro) rs397515192
NM_000551.4(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter) rs1650332196
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr) rs587776937
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_001008212.2(OPTN):c.565G>T (p.Glu189Ter) rs1564360451
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) rs886041767
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu) rs483352970
NM_001130144.3(LTBP3):c.132del (p.Pro45fs) rs1286042594
NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter) rs143833346
NM_001145358.2(SIN3A):c.1657C>T (p.Arg553Ter) rs1555444885
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys) rs1057521083
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001277115.2(DNAH11):c.3750dup (p.Cys1251fs)
NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs) rs1279657093
NM_001303052.2(MYT1L):c.1975C>T (p.Arg659Ter) rs745333246
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001370259.2(MEN1):c.1252G>C (p.Asp418His) rs104894264
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys) rs1085307471
NM_001370259.2(MEN1):c.670A>T (p.Lys224Ter) rs1941829518
NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter) rs2083361357
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001377.3(DYNC2H1):c.12581C>T (p.Ser4194Phe) rs886042136
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs) rs863225175
NM_001384474.1(LOXHD1):c.1475G>A (p.Trp492Ter) rs2038190712
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs) rs886040857
NM_001451.3(FOXF1):c.322A>G (p.Lys108Glu) rs1969551030
NM_001470.4(GABBR1):c.665C>T (p.Pro222Leu)
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.3590G>C (p.Gly1197Ala) rs1938686073
NM_001972.4(ELANE):c.2T>C (p.Met1Thr) rs2035606369
NM_002074.5(GNB1):c.230G>C (p.Gly77Ala) rs1135401746
NM_002317.7(LOX):c.625del (p.Gln209fs) rs756849358
NM_003072.5(SMARCA4):c.2935C>T (p.Arg979Ter) rs769308802
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_004329.3(BMPR1A):c.1330T>C (p.Cys444Arg) rs774061725
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004364.5(CEBPA):c.247del (p.Gln83fs) rs1967192886
NM_004369.4(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu) rs587784506
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn) rs1064793349
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) rs1131691283
NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter) rs1554122455
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs) rs756131136
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.4(BRCA1):c.5152+4A>G rs397509232
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
NM_022552.5(DNMT3A):c.2204A>C (p.Tyr735Ser) rs147828672
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024685.4(BBS10):c.1408del (p.Gln470fs) rs1555202614
NM_024740.2(ALG9):c.1173+2T>A rs786205134
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter) rs1131691668
NM_130810.4(DNAAF4):c.390_393del (p.Ser131_Val132insTer) rs781156334
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_176824.3(BBS7):c.1306-1_1308del rs779436749
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His) rs1558149913

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