ClinVar Miner

Variants from Clinical Genomics Laboratory, Washington University in St. Louis with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Clinical Genomics Laboratory, Washington University in St. Louis: Collection method of the submission from Clinical Genomics Laboratory, Washington University in St. Louis:
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
1386 294 9 111 55 2 62 216

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 Genomics Laboratory, Washington University in St. Louis pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 8 67 15 1 1 2
likely pathogenic 44 0 13 0 0 0
uncertain significance 16 23 1 43 21 0

Submitter to submitter summary #

Total submitters: 138
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 0 148 1 17 36 0 5 59
OMIM 0 66 2 14 0 0 10 26
Genome-Nilou Lab 0 30 0 4 12 0 1 17
Illumina Laboratory Services, Illumina 0 54 1 3 6 0 2 12
Variantyx, Inc. 0 28 0 9 0 0 1 10
Ambry Genetics 0 24 0 1 7 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 21 2 4 0 0 2 8
Fulgent Genetics, Fulgent Genetics 0 73 0 5 0 0 3 8
GeneDx 0 14 0 1 4 0 3 8
Institute of Human Genetics, University of Leipzig Medical Center 0 33 0 5 1 0 2 8
MGZ Medical Genetics Center 0 18 0 6 0 0 2 8
Mendelics 0 24 0 4 2 0 2 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 44 0 6 0 0 2 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 41 0 7 1 0 0 8
Baylor Genetics 0 48 0 5 0 0 2 7
Counsyl 0 11 0 4 0 0 2 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 18 0 6 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 3 0 4 0 0 2 6
3billion 0 35 0 5 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 17 0 5 0 0 0 5
Myriad Genetics, Inc. 0 15 0 1 4 0 0 5
Natera, Inc. 0 27 0 2 3 0 0 5
Revvity Omics, Revvity 0 34 0 5 0 0 0 5
CeGaT Center for Human Genetics Tuebingen 0 10 0 1 3 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 3 1 2 0 0 1 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 6 0 3 0 0 1 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 13 0 3 0 0 1 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 13 0 3 0 0 1 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 8 0 3 0 0 1 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 3 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 12 0 2 0 0 1 3
Genetics and Molecular Pathology, SA Pathology 0 7 0 2 0 0 1 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 2 1 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 0 12 0 1 0 0 2 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 9 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 14 1 2 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 7 0 3 0 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 0 0 2 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 8 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 2 0 0 1 3
All of Us Research Program, National Institutes of Health 0 19 0 2 0 0 0 2
Athena Diagnostics 0 1 0 0 0 0 2 2
ClinPGx 0 0 0 0 0 2 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 7 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 11 0 1 0 0 1 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 7 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 11 0 1 0 0 1 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 11 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 3 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 0 1 0 0 1 2
Johns Hopkins Genomics, Johns Hopkins University 0 10 0 1 0 0 1 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 7 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 13 0 1 0 0 1 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 1 0 0 1 2
PreventionGenetics, part of Exact Sciences 0 9 0 0 2 0 0 2
Robarts Research Institute, Western University 0 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 5 0 1 0 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 15 0 1 0 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 1 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 3 0 0 1 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 2 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 5 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 1 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 1 0 0 0 0 1 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 1 0 1 0 0 0 1
Care4Rare-SOLVE, CHEO 0 6 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 0 0 0 0 1 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 0 1 1
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 0 1 0 1 0 0 0 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 3 0 0 0 0 1 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 2 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 4 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 2 0 0 1 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 8 0 0 0 0 1 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 2 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 3 0 0 1 0 0 1
Color Diagnostics, LLC DBA Color Health 0 13 0 1 0 0 0 1
Dasa 0 13 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1 0 0 0 1
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 1 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
Dubai Health Genomic Medicine Center, Dubai Health 0 3 0 1 0 0 0 1
Département de Neurologie, Hospices Civils de Lyon 0 0 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 1 0 0 0 0 1 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 3 0 0 0 0 1 1
Genetic Testing Lab, University of Kentucky College of Medicine 0 0 0 1 0 0 0 1
Genetics Department, Catlab 0 1 0 1 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 2 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 3 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 6 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 3 0 0 0 0 1 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 3 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 2 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 21 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 6 0 1 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 0 0 0 1 1
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 11 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 14 0 1 0 0 0 1
Institute of Tissue Medicine and Pathology, University of Bern 0 0 0 1 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 1 0 0 1 0 0 1
King Laboratory, University of Washington 0 0 0 0 0 0 1 1
LDLR-LOVD, British Heart Foundation 0 1 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 3 0 1 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 1 1
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute 0 0 0 0 0 0 1 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 0 1 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 4 0 0 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 7 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1
New York Genome Center 0 13 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 8 0 0 0 0 1 1
Ophthalmic Genetics and Bioinformatics Laboratory, Shanghai Puxi and Light Genomics Technology Co., Ltd. 0 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 11 0 1 0 0 0 1
Research Group Niklas Dahl, Uppsala University 0 0 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 5 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Suma Genomics 0 1 0 0 0 0 1 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 5 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 0 0 0 0 0 0 1 1
Versiti Diagnostic Laboratories, Versiti, Inc 0 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 216
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06255
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01412
NM_001195755.2(FFAR4):c.761G>A (p.Arg254His) rs116454156 0.01372
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00253
NM_015158.5(KANK1):c.1801G>A (p.Glu601Lys) rs115020236 0.00223
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240 0.00201
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00193
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 0.00190
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00188
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly) rs188319622 0.00176
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00131
NM_006440.5(TXNRD2):c.505G>A (p.Gly169Ser) rs138462062 0.00128
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00103
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00102
NM_005245.4(FAT1):c.13174G>A (p.Val4392Ile) rs192910004 0.00097
NM_018677.4(ACSS2):c.1487T>C (p.Val496Ala) rs59088485 0.00096
NM_015158.5(KANK1):c.3371G>A (p.Arg1124His) rs114055800 0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00087
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00070
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00066
NM_032885.6(ATG4D):c.839A>G (p.Tyr280Cys) rs148969864 0.00063
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00044
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg) rs137852638 0.00026
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189 0.00022
NM_153603.4(COG7):c.435+2T>C rs201446992 0.00022
NM_000096.4(CP):c.746A>C (p.Asp249Ala) rs151311306 0.00021
NM_006610.4(MASP2):c.1187G>A (p.Cys396Tyr) rs185903926 0.00018
NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn) rs200204126 0.00017
NM_014384.3(ACAD8):c.784G>A (p.Glu262Lys) rs368653287 0.00015
NM_001386125.1(OBSCN):c.2614G>A (p.Val872Met) rs753928558 0.00014
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325 0.00012
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_000093.5(COL5A1):c.5389A>C (p.Lys1797Gln) rs560106611 0.00009
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_001284401.2(TAMM41):c.256T>C (p.Ser86Pro) rs199871047 0.00008
NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys) rs534089911 0.00008
NM_175914.5(HNF4A):c.-83C>T rs879092890 0.00008
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu) rs370529693 0.00007
NM_001378609.3(OTOGL):c.1585C>T (p.Gln529Ter) rs371465450 0.00007
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591 0.00006
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter) rs147622852 0.00006
NM_144988.4(ALG14):c.422T>G (p.Val141Gly) rs139005007 0.00006
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919 0.00005
NM_000489.6(ATRX):c.1478A>G (p.His493Arg) rs947189709 0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00005
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00005
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu) rs397515288 0.00004
NM_000097.7(CPOX):c.601G>A (p.Glu201Lys) rs1374394802 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00003
NM_000368.5(TSC1):c.1922C>A (p.Pro641His) rs397514863 0.00003
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys) rs60373464 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909 0.00003
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro) rs762153545 0.00003
NM_001458.5(FLNC):c.7484G>A (p.Arg2495His) rs757219498 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_015047.3(EMC1):c.1806T>G (p.Tyr602Ter) rs372717647 0.00003
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00002
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter) rs747405574 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val) rs374066182 0.00002
NM_001042492.3(NF1):c.7838C>T (p.Pro2613Leu) rs750972729 0.00002
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549 0.00002
NM_022114.4(PRDM16):c.1506G>A (p.Thr502=) rs375543158 0.00002
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000368.5(TSC1):c.2683G>A (p.Val895Ile) rs576476807 0.00001
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile) rs370916731 0.00001
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00001
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys) rs1374504617 0.00001
NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn) rs782313786 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly) rs141681167 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala) rs772617064 0.00001
NM_000548.5(TSC2):c.2364G>A (p.Met788Ile) rs773786955 0.00001
NM_000548.5(TSC2):c.2417T>C (p.Val806Ala) rs1285249923 0.00001
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala) rs1459518095 0.00001
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp) rs374410454 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp) rs755868373 0.00001
NM_004444.5(EPHB4):c.2173G>A (p.Ala725Thr) rs1159930961 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys) rs879253864 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys) rs375110174 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765 0.00001
NM_147191.1(MMP21):c.281G>C (p.Arg94Pro) rs912256328 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg) rs137852211 0.00001
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter) rs1363815113
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg) rs121913474
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe) rs2149118712
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000352.6(ABCC8):c.3557+1G>A rs1554910610
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala) rs1454859974
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp) rs372583166
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs) rs121918384
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000459.5(TEK):c.2689T>A (p.Tyr897Asn) rs2131227936
NM_000459.5(TEK):c.2740C>T (p.Leu914Phe) rs1825682849
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_000548.5(TSC2):c.3365G>C (p.Arg1122Pro) rs369536711
NM_001003800.2(BICD2):c.2042C>T (p.Ser681Leu) rs1853375829
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001042424.3(NSD2):c.4028del (p.Pro1343fs) rs752037034
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val) rs2151425819
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.6196A>G (p.Thr2066Ala) rs1567616928
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr) rs781578248
NM_001079668.3(NKX2-1):c.1045dup (p.His349fs) rs2502626171
NM_001081.4(CUBN):c.4366G>A (p.Asp1456Asn) rs377730376
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys) rs2144406630
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001190737.2(NFIB):c.115C>T (p.Arg39Cys) rs1588253471
NM_001304360.2(CFAP74):c.4380_4381dup (p.Phe1461fs) rs578234038
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs) rs1794584714
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile) rs2125159718
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del) rs281865194
NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp) rs1758081729
NM_001386125.1(OBSCN):c.1199C>T (p.Ala400Val) rs201231167
NM_001386125.1(OBSCN):c.15261A>T (p.Gln5087His) rs569260441
NM_001386125.1(OBSCN):c.4225dup (p.Val1409fs) rs759751670
NM_001386125.1(OBSCN):c.6599C>T (p.Thr2200Met)
NM_001386125.1(OBSCN):c.7695G>A (p.Ser2565=) rs374013818
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001613.4(ACTA2):c.808G>A (p.Gly270Arg) rs794728028
NM_001807.6(CEL):c.1776dup (p.Val593fs) rs193922638
NM_001943.5(DSG2):c.2257del (p.Ala753fs) rs1567933176
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met) rs2143631386
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del) rs1555527166
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) rs864309711
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) rs587776446
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp) rs1555184609
NM_004247.4(EFTUD2):c.2562-2A>G rs2508718746
NM_005027.4(PIK3R2):c.1694C>T (p.Pro565Leu) rs1131691683
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.3061T>C (p.Tyr1021His) rs2108429509
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro) rs200018596
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_014225.6(PPP2R1A):c.430C>T (p.Arg144Cys) rs2122329969
NM_015015.3(KDM4B):c.288C>T (p.Gly96=) rs1395918076
NM_015100.4(POGZ):c.3118G>A (p.Glu1040Lys) rs2102146729
NM_015450.3(POT1):c.1322dup (p.Asn441fs) rs1358966427
NM_017780.4(CHD7):c.4034G>A (p.Arg1345His)
NM_017871.6(INTS11):c.936dup (p.Ala313fs) rs556125116
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_030957.4(ADAMTS10):c.698G>A (p.Arg233Gln) rs1555741462
NM_053274.3(GLMN):c.1179_1181del (p.Asn393del) rs773442562
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer) rs762515373
NM_053274.3(GLMN):c.554_558delinsG (p.Lys185fs) rs1570964992
NM_139058.3(ARX):c.1142C>T (p.Ala381Val)
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_177559.3(CSNK2A1):c.400C>T (p.Arg134Ter) rs2122537652
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_206937.2(LIG4):c.823G>C (p.Asp275His)

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