ClinVar Miner

Variants from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago: Collection method of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago:
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
987 566 3 117 444 2 52 584

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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago pathogenic likely pathogenic uncertain significance likely benign benign association other
pathogenic 2 38 7 0 0 0 1
likely pathogenic 30 0 6 2 0 0 0
uncertain significance 14 24 1 347 123 1 0
likely benign 5 1 26 0 44 0 0
benign 0 0 4 5 0 0 0

Submitter to submitter summary #

Total submitters: 108
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 0 335 1 44 338 1 13 397
Illumina Laboratory Services, Illumina 0 85 0 10 54 0 4 67
PreventionGenetics, part of Exact Sciences 0 15 0 6 37 0 0 43
Fulgent Genetics, Fulgent Genetics 0 230 0 14 12 0 8 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 35 0 5 23 0 0 28
Natera, Inc. 0 35 0 9 18 0 0 27
CeGaT Center for Human Genetics Tuebingen 0 17 0 4 20 0 0 24
Ambry Genetics 0 54 0 3 19 0 0 22
Genome-Nilou Lab 0 29 0 13 8 0 0 21
GeneDx 0 34 0 5 15 0 0 20
OMIM 0 23 1 4 1 0 13 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 16 0 1 15 0 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 25 0 4 12 0 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 14 0 0 12 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 35 0 2 4 0 5 11
Mayo Clinic Laboratories, Mayo Clinic 0 22 0 2 9 0 0 11
Mendelics 0 10 0 2 9 0 0 11
Baylor Genetics 0 39 0 6 1 0 1 8
Counsyl 0 4 0 6 0 0 2 8
Eurofins Ntd Llc (ga) 0 13 0 2 5 1 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 11 0 1 6 0 0 7
Revvity Omics, Revvity 0 43 0 4 1 0 1 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 20 0 2 0 0 4 6
All of Us Research Program, National Institutes of Health 0 6 0 1 3 0 1 5
Center for Medical Genetics Ghent, University of Ghent 0 3 0 3 1 0 1 5
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 0 0 0 4 0 1 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 8 0 3 2 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 14 0 2 3 0 0 5
3billion 0 21 0 3 0 0 1 4
Athena Diagnostics 0 5 0 2 2 0 0 4
Breakthrough Genomics, Breakthrough Genomics 0 15 0 0 4 0 0 4
Genetic Services Laboratory, University of Chicago 0 11 0 2 2 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 4 0 1 0 0 2 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 2 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 9 0 1 1 0 1 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 13 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 2 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 2 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 8 0 2 0 0 0 2
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 0 0 2 0 0 0 2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 1 0 0 0 1 2
Color Diagnostics, LLC DBA Color Health 0 6 0 0 1 0 1 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 4 0 0 2 0 0 2
Lifecell International Pvt. Ltd 0 0 0 2 0 0 0 2
New York Genome Center 0 23 0 0 1 0 1 2
SIB Swiss Institute of Bioinformatics 0 2 0 1 1 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 7 0 0 1 0 1 2
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 1 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 0 0 0 0 1 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 0 0 0 1 1
Blueprint Genetics 0 1 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 1 0 0 1 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 3 0 0 1 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 0 0 0 1 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 1 0 0 0 1
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 0 1 0 0 1 0 0 1
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 0 2 0 1 0 0 0 1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 0 0 1 0 0 0 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 1 1
ClinGen PAH Variant Curation Expert Panel 0 2 0 1 0 0 0 1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 0 0 0 1 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 1 0 0 0 0 1 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 0 1
Collagen Diagnostic Laboratory, University of Washington 0 0 0 1 0 0 0 1
Dasa 0 7 0 0 1 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 2 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 4 0 1 0 0 0 1
Department of Internal Medicine, University of Texas Health Science Center at Houston 0 0 0 1 0 0 0 1
Division of Clinical Immunology and Allergy, Necmettin Erbakan University, Faculty of Medicine 0 2 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 2 0 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 4 0 0 1 0 0 1
Genomenon, Inc, Genomenon, Inc 0 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 6 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 4 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 1 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 1 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 0 1 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 5 0 0 0 0 1 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 7 0 0 1 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 1 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 1 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 0 1 0 1 0 0 0 1
Leiden Open Variation Database 0 1 0 0 0 0 1 1
MGZ Medical Genetics Center 0 4 0 1 0 0 0 1
Mitochondrial Research Group, Newcastle University 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 0 1 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 5 0 1 0 0 0 1
Neurology Department, Shenzhen Children's Hospital 0 0 0 1 0 0 0 1
Next Generation Genetic Polyclinic 0 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 0 1 0 0 1
RettBASE 0 2 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 3 0 1 0 0 0 1
Shaine Morris Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Solve-RD Consortium 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 1 0 0 0 1
Variantyx, Inc. 0 10 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 584
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000569.8(FCGR3A):c.197T>A (p.Leu66His) rs10127939 0.04855
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02216
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_017553.3(INO80):c.2644A>G (p.Ile882Val) rs34153025 0.01426
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile) rs147436181 0.01250
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_021155.4(CD209):c.642G>C (p.Glu214Asp) rs11465377 0.01020
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.00992
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.00981
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00831
NM_001382567.1(STIM1):c.1634+319G>A rs118128831 0.00808
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00707
NM_003183.6(ADAM17):c.2017G>A (p.Val673Ile) rs61754177 0.00673
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694 0.00673
NM_139125.4(MASP1):c.1090+2877G>A rs113938200 0.00638
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser) rs116690692 0.00511
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531 0.00510
NM_001171174.1(CX3CR1):c.10C>G (p.Pro4Ala) rs147724093 0.00497
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00449
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00445
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00421
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00408
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000201.3(ICAM1):c.1432C>T (p.Arg478Trp) rs5030400 0.00391
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00376
NM_017999.5(RNF31):c.415G>A (p.Glu139Lys) rs45466595 0.00376
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00376
NM_000418.4(IL4R):c.1160C>T (p.Ser387Leu) rs6413500 0.00368
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_152468.5(TMC8):c.1982C>T (p.Pro661Leu) rs139972217 0.00364
NM_052813.5(CARD9):c.809A>T (p.Glu270Val) rs114895119 0.00356
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00333
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_020458.4(TTC7A):c.176C>G (p.Pro59Arg) rs201805434 0.00322
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_017999.5(RNF31):c.1865A>T (p.Gln622Leu) rs149481717 0.00307
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122 0.00299
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00298
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576 0.00297
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val) rs149451729 0.00287
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp) rs150306354 0.00280
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp) rs199519673 0.00279
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00277
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00274
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr) rs143679494 0.00265
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00262
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00251
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00246
NM_001036.6(RYR3):c.8555G>A (p.Arg2852His) rs150799181 0.00244
NM_000211.5(ITGB2):c.147+9C>T rs199948899 0.00243
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val) rs116464756 0.00241
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00235
NM_000101.4(CYBA):c.226G>A (p.Val76Met) rs149344911 0.00233
NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg) rs140221307 0.00230
NM_014339.7(IL17RA):c.152C>T (p.Thr51Met) rs143008696 0.00228
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00225
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088 0.00224
NM_080424.4(SP110):c.583+8A>G rs114743173 0.00224
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00221
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile) rs62621067 0.00217
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met) rs202188220 0.00214
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile) rs143780139 0.00213
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp) rs121913212 0.00212
NM_000593.6(TAP1):c.1103T>C (p.Ile368Thr) rs55767910 0.00211
NM_000639.3(FASLG):c.451+7A>G rs201525996 0.00210
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00206
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798 0.00205
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00205
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn) rs115220304 0.00203
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 0.00194
NM_001369369.1(FOXN1):c.382C>T (p.Arg128Trp) rs144301161 0.00190
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00189
NM_012448.4(STAT5B):c.551-5T>C rs200299299 0.00188
NM_080424.4(SP110):c.584-10C>G rs148591984 0.00188
NM_002187.3(IL12B):c.749G>A (p.Arg250Gln) rs74644143 0.00187
NM_003803.4(MYOM1):c.461C>T (p.Thr154Met) rs140845661 0.00185
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu) rs147945634 0.00185
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00183
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001036.6(RYR3):c.7490A>G (p.Asn2497Ser) rs61996331 0.00179
NM_001771.4(CD22):c.2006G>A (p.Arg669His) rs140037563 0.00179
NM_001879.6(MASP1):c.1442-5C>G rs138989954 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_000572.3(IL10):c.43G>A (p.Gly15Arg) rs145922845 0.00177
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00177
NM_001161352.2(KCNMA1):c.2484+7G>A rs13377017 0.00176
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly) rs188319622 0.00176
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser) rs147744729 0.00174
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_014339.7(IL17RA):c.1493C>T (p.Thr498Ile) rs41529049 0.00173
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915 0.00173
NM_002831.6(PTPN6):c.9-6G>A rs200900053 0.00172
NM_147686.4(TRAF3IP2):c.819C>G (p.His273Gln) rs144405088 0.00172
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg) rs76897604 0.00164
NM_145207.3(AFG2A):c.896G>T (p.Gly299Val) rs75871497 0.00164
NM_001036.6(RYR3):c.10698G>A (p.Thr3566=) rs200309704 0.00163
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe) rs141215990 0.00161
NM_152468.5(TMC8):c.1364G>A (p.Arg455Gln) rs151076155 0.00158
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) rs145553827 0.00157
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00157
NM_001382567.1(STIM1):c.1634+287G>A rs562406813 0.00155
NM_002187.3(IL12B):c.283G>A (p.Glu95Lys) rs56287471 0.00155
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met) rs78028658 0.00153
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_024589.3(ROGDI):c.822+8C>T rs376868221 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_002476.2(MYL4):c.167T>C (p.Phe56Ser) rs144870368 0.00147
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359 0.00146
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00144
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545 0.00144
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00143
NM_001905.4(CTPS1):c.1276C>G (p.Pro426Ala) rs139322260 0.00143
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00143
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00140
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00139
NM_001318789.2(TLR2):c.271A>G (p.Ile91Val) rs116232047 0.00137
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001111.5(ADAR):c.2668+6T>C rs190881240 0.00135
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln) rs145229115 0.00131
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) rs114664276 0.00131
NM_017553.3(INO80):c.3842G>A (p.Arg1281Gln) rs141223506 0.00131
NM_001558.4(IL10RA):c.698T>G (p.Val233Gly) rs138929400 0.00130
NM_002185.5(IL7R):c.778G>A (p.Ala260Thr) rs147153824 0.00130
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00129
NM_139125.4(MASP1):c.674A>G (p.Asn225Ser) rs145045341 0.00128
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00124
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu) rs112301354 0.00123
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00122
NM_000211.5(ITGB2):c.311C>T (p.Thr104Met) rs138682103 0.00121
NM_001322934.2(NFKB2):c.2072-3C>T rs201550645 0.00120
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) rs140328152 0.00119
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277 0.00117
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val) rs142941257 0.00116
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457 0.00115
NM_014140.4(SMARCAL1):c.1851+5G>A rs2066514 0.00115
NM_006282.5(STK4):c.1057A>G (p.Thr353Ala) rs140089638 0.00114
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn) rs151286835 0.00113
NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu) rs149434153 0.00113
NM_005356.5(LCK):c.601G>A (p.Gly201Ser) rs11567841 0.00113
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe) rs147927593 0.00110
NM_147686.4(TRAF3IP2):c.281G>A (p.Ser94Asn) rs61756667 0.00110
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00107
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00105
NM_019032.6(ADAMTSL4):c.2944-7G>A rs193025475 0.00105
NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg) rs146214639 0.00104
NM_001036.6(RYR3):c.6698G>A (p.Arg2233Gln) rs199648816 0.00102
NM_001737.5(C9):c.1451T>A (p.Met484Lys) rs145969667 0.00101
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu) rs142327602 0.00099
NM_021167.5(GATAD1):c.96T>G (p.His32Gln) rs532003876 0.00099
NM_017837.4(PIGV):c.348G>A (p.Leu116=) rs148662665 0.00096
NM_001012339.3(DNAJC21):c.191+10A>G rs368399096 0.00094
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154 0.00093
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_003327.4(TNFRSF4):c.494T>C (p.Ile165Thr) rs150407012 0.00090
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His) rs151032299 0.00084
NM_000733.4(CD3E):c.470C>T (p.Ala157Val) rs140639753 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_152468.5(TMC8):c.1168G>A (p.Val390Ile) rs150546646 0.00082
NM_006302.3(MOGS):c.1851T>A (p.His617Gln) rs199939051 0.00079
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075 0.00079
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr) rs113631419 0.00077
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00074
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540 0.00074
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln) rs200153921 0.00073
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu) rs138438849 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_006610.4(MASP2):c.352C>T (p.Arg118Cys) rs147270785 0.00066
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00066
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile) rs6755258 0.00066
NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His) rs200227171 0.00065
NM_001366385.1(CARD14):c.960G>A (p.Glu320=) rs144207494 0.00065
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe) rs143548979 0.00062
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) rs139833874 0.00061
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00061
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) rs201635205 0.00061
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) rs146490788 0.00061
NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly) rs150743648 0.00059
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser) rs375308440 0.00057
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00056
NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp) rs114875104 0.00056
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00056
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842 0.00055
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427 0.00054
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_001006658.3(CR2):c.970C>T (p.Arg324Cys) rs147393483 0.00050
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_002838.5(PTPRC):c.3073-6A>G rs191867796 0.00049
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys) rs147904018 0.00048
NM_006904.7(PRKDC):c.6901C>G (p.Gln2301Glu) rs376211703 0.00048
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile) rs116647440 0.00047
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00046
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00040
NM_001737.5(C9):c.1585G>A (p.Ala529Thr) rs137891079 0.00040
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile) rs149525720 0.00035
NM_000081.4(LYST):c.2946T>C (p.Tyr982=) rs145892183 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys) rs113967308 0.00034
NM_005076.5(CNTN2):c.214C>T (p.Arg72Trp) rs149564430 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117 0.00033
NM_014159.7(SETD2):c.664C>A (p.Leu222Ile) rs192262279 0.00033
NM_014915.3(ANKRD26):c.1970A>T (p.Asp657Val) rs193178384 0.00033
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00032
NM_000156.6(GAMT):c.570+161T>A rs368296913 0.00031
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) rs113696032 0.00031
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) rs148621523 0.00031
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591 0.00031
NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys) rs201025468 0.00031
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027 0.00030
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00030
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_005546.4(ITK):c.631G>C (p.Val211Leu) rs142038079 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_199242.3(UNC13D):c.972C>T (p.Asp324=) rs368990813 0.00029
NM_001291303.3(FAT4):c.9451G>A (p.Ala3151Thr) rs200702071 0.00027
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00027
NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=) rs753915750 0.00027
NM_024589.3(ROGDI):c.532-4G>A rs3747610 0.00027
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00027
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_005535.3(IL12RB1):c.1791+9G>A rs182660189 0.00026
NM_181523.3(PIK3R1):c.917-1513G>T rs144312303 0.00026
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405 0.00025
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=) rs140090983 0.00025
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_003803.4(MYOM1):c.3548G>A (p.Arg1183Gln) rs147050513 0.00024
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00023
NM_005101.4(ISG15):c.296G>A (p.Arg99Gln) rs374404353 0.00023
NM_004104.5(FASN):c.3829C>G (p.Pro1277Ala) rs764159372 0.00022
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00020
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys) rs200792813 0.00020
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln) rs199804244 0.00019
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val) rs141887693 0.00017
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891 0.00017
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly) rs138391404 0.00017
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys) rs147319483 0.00016
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr) rs373522639 0.00016
NM_006904.7(PRKDC):c.3898A>G (p.Ser1300Gly) rs368949953 0.00016
NM_014915.3(ANKRD26):c.1635+9T>C rs199590440 0.00016
NM_020822.3(KCNT1):c.2595-9C>T rs369966222 0.00016
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_006904.7(PRKDC):c.5572-4G>A rs367584015 0.00015
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664 0.00015
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676 0.00014
NM_001289125.3(IFNAR2):c.505G>A (p.Val169Ile) rs140533677 0.00014
NM_002185.5(IL7R):c.1096T>C (p.Ser366Pro) rs201671392 0.00014
NM_004415.4(DSP):c.1534A>G (p.Ile512Val) rs202025438 0.00014
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_000628.5(IL10RB):c.954G>A (p.Pro318=) rs374161818 0.00013
NM_001737.5(C9):c.355T>G (p.Cys119Gly) rs121909593 0.00013
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005428.4(VAV1):c.724-11C>T rs367963535 0.00013
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283 0.00013
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00013
NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg) rs554602951 0.00013
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671 0.00012
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) rs142559533 0.00012
NM_006254.4(PRKCD):c.1260+7G>A rs374605708 0.00012
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser) rs150241349 0.00012
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033 0.00011
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) rs149315236 0.00011
NM_001364905.1(LRBA):c.6046+7G>T rs376126419 0.00011
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val) rs750326949 0.00011
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058 0.00011
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 0.00011
NM_014009.4(FOXP3):c.551C>T (p.Ser184Leu) rs140222626 0.00011
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu) rs200319694 0.00010
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln) rs147977213 0.00009
NM_001122681.2(SH3BP2):c.1464G>T (p.Arg488=) rs144848283 0.00009
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu) rs104895489 0.00009
NM_018026.4(PACS1):c.385G>A (p.Val129Ile) rs115491121 0.00009
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00009
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_000628.5(IL10RB):c.804+8G>A rs112943706 0.00008
NM_001127198.5(TMC6):c.633+8C>T rs369450669 0.00008
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu) rs745650222 0.00008
NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg) rs751367935 0.00008
NM_005076.5(CNTN2):c.1216G>A (p.Ala406Thr) rs752262787 0.00008
NM_000719.7(CACNA1C):c.2854-4G>A rs113929946 0.00007
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr) rs876657971 0.00007
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) rs193141883 0.00007
NM_002163.4(IRF8):c.988+10G>A rs371410129 0.00007
NM_002474.3(MYH11):c.4117-6T>G rs370252949 0.00007
NM_004415.4(DSP):c.107G>C (p.Gly36Ala) rs778506459 0.00007
NM_005477.3(HCN4):c.1243G>A (p.Val415Met) rs201978086 0.00007
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00007
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=) rs75852730 0.00007
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly) rs104894425 0.00007
NM_172351.3(CD46):c.944-1G>C rs140298514 0.00007
NM_199242.3(UNC13D):c.2710-8C>G rs545824447 0.00007
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141 0.00006
NM_000270.4(PNP):c.645C>T (p.Asp215=) rs369193020 0.00006
NM_000744.7(CHRNA4):c.138C>T (p.Ser46=) rs200705061 0.00006
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val) rs148117486 0.00006
NM_002185.5(IL7R):c.1007A>G (p.Glu336Gly) rs770237630 0.00006
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_003190.5(TAPBP):c.591G>A (p.Pro197=) rs200497341 0.00006
NM_005207.4(CRKL):c.840C>T (p.Asn280=) rs769606385 0.00006
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322 0.00006
NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp) rs373039242 0.00006
NM_053025.4(MYLK):c.2627G>A (p.Arg876His) rs537224715 0.00006
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00005
NM_000383.4(AIRE):c.156G>A (p.Lys52=) rs144396624 0.00005
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001322934.2(NFKB2):c.1938G>A (p.Glu646=) rs563687760 0.00005
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr) rs114527197 0.00005
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450 0.00005
NM_152564.5(VPS13B):c.1652-9T>A rs375615155 0.00005
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000814.6(GABRB3):c.1269C>G (p.His423Gln) rs76962261 0.00004
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr) rs200653747 0.00004
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His) rs558239439 0.00004
NM_003036.4(SKI):c.2092C>T (p.Leu698=) rs766929334 0.00004
NM_003482.4(KMT2D):c.7001G>A (p.Arg2334Gln) rs757300574 0.00004
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483 0.00004
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) rs567287489 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_057176.3(BSND):c.3G>A (p.Met1Ile) rs74315286 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00003
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) rs142459706 0.00003
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter) rs754502950 0.00003
NM_000814.6(GABRB3):c.969G>A (p.Glu323=) rs77608123 0.00003
NM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=) rs201670483 0.00003
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_003482.4(KMT2D):c.5285G>C (p.Ser1762Thr) rs777604931 0.00003
NM_003482.4(KMT2D):c.6440C>T (p.Ala2147Val) rs764604229 0.00003
NM_007074.4(CORO1A):c.451+7C>T rs761205413 0.00003
NM_012448.4(STAT5B):c.550+7C>T rs771507023 0.00003
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00003
NM_014795.4(ZEB2):c.332-6C>T rs730881186 0.00003
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471 0.00003
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649 0.00003
NM_033118.4(MYLK2):c.558G>A (p.Thr186=) rs140695242 0.00003
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035 0.00003
NM_000090.4(COL3A1):c.2607+10G>A rs367789349 0.00002
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 0.00002
NM_000093.5(COL5A1):c.5371-8T>C rs1352923765 0.00002
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00002
NM_000215.4(JAK3):c.114C>A (p.Pro38=) rs1448668382 0.00002
NM_001029896.2(WDR45):c.870C>T (p.Tyr290=) rs782557596 0.00002
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995 0.00002
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729 0.00002
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_006254.4(PRKCD):c.889-9C>T rs782612523 0.00002
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=) rs776461617 0.00002
NM_006904.7(PRKDC):c.1713C>T (p.Ser571=) rs373088662 0.00002
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu) rs193247334 0.00002
NM_016097.5(IER3IP1):c.92-10C>T rs772039958 0.00002
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter) rs368482584 0.00002
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile) rs765060493 0.00002
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
NM_138425.4(C12orf57):c.363C>T (p.Gly121=) rs782694267 0.00002
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=) rs913138802 0.00002
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198 0.00001
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162 0.00001
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000090.4(COL3A1):c.4254+3A>G rs376799861 0.00001
NM_000138.5(FBN1):c.6164-5T>C rs2043085940 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00001
NM_000431.4(MVK):c.1116C>T (p.Ile372=) rs368066027 0.00001
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter) rs773929270 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser) rs1349202366 0.00001
NM_000834.5(GRIN2B):c.2011-8C>G rs774971411 0.00001
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly) rs757605946 0.00001
NM_001134363.3(RBM20):c.2410G>A (p.Glu804Lys) rs957248353 0.00001
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) rs971048873 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn) rs781561828 0.00001
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr) rs776101722 0.00001
NM_002838.5(PTPRC):c.2142+7A>G rs764731559 0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207 0.00001
NM_003482.4(KMT2D):c.1408C>T (p.Pro470Ser) rs761594079 0.00001
NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu) rs780776865 0.00001
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=) rs750377910 0.00001
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro) rs1008407158 0.00001
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu) rs766384576 0.00001
NM_005249.5(FOXG1):c.1123G>A (p.Ala375Thr) rs1594384127 0.00001
NM_005428.4(VAV1):c.381-8C>A rs780032946 0.00001
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=) rs762583668 0.00001
NM_006892.4(DNMT3B):c.1490+8C>G rs746731138 0.00001
NM_006904.7(PRKDC):c.7812G>A (p.Pro2604=) rs763035246 0.00001
NM_007327.4(GRIN1):c.957G>A (p.Pro319=) rs766888803 0.00001
NM_014795.4(ZEB2):c.2226A>T (p.Pro742=) rs540345773 0.00001
NM_015488.5(PNKD):c.97G>C (p.Ala33Pro) rs121434513 0.00001
NM_015599.3(PGM3):c.219A>G (p.Val73=) rs752657453 0.00001
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510 0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) rs774976459 0.00001
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) rs767453829 0.00001
NM_032415.7(CARD11):c.1143+10C>G rs1300600302 0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_052813.5(CARD9):c.185-5C>T rs760533705 0.00001
NM_052813.5(CARD9):c.636G>A (p.Gln212=) rs759411705 0.00001
NM_203447.4(DOCK8):c.5481T>C (p.His1827=) rs1554708887 0.00001
NM_206937.2(LIG4):c.1242A>C (p.Val414=) rs150828164 0.00001
NM_000020.3(ACVRL1):c.313+7C>T rs374171506
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000081.4(LYST):c.3940-17dup rs755137786
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr) rs794728166
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe) rs1555397718
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.6313+3A>G rs1555395256
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.69T>C (p.His23=) rs2140787712
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000170.3(GLDC):c.2569+8T>G rs894742250
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000251.3(MSH2):c.403C>G (p.Leu135Val) rs193096019
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg) rs150577656
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000448.3(RAG1):c.1981_1983del (p.Met661del) rs774103837
NM_000481.4(AMT):c.602_603del (p.Lys201fs) rs1279743247
NM_000548.5(TSC2):c.2356-4_2356-3delinsAG rs2543810686
NM_000626.4(CD79B):c.414A>G (p.Thr138=) rs1567810051
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.4454G>A (p.Gly1485Asp) rs1701579057
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His) rs1555534432
NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=) rs782099907
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001201550.3(CFHR4):c.596C>T (p.Ser199Phe) rs199731883
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001283009.2(RTEL1):c.3343+8G>A rs768036242
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=) rs919917378
NM_001290043.2(TAP2):c.1144-6_1144-5delinsAC rs386699797
NM_001347721.2(DYRK1A):c.1527A>G (p.Ser509=) rs1569398234
NM_001369369.1(FOXN1):c.1585del (p.Leu529fs) rs1161194345
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys) rs200864007
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln) rs150549869
NM_001737.5(C9):c.1039_1042del (p.Ser347fs) rs1027370764
NM_002582.4(PARN):c.758_759del (p.Glu253fs) rs2151787383
NM_002641.4(PIGA):c.248T>C (p.Leu83Pro) rs1569180063
NM_003183.6(ADAM17):c.1545-7_1545-5del rs372560151
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003476.5(CSRP3):c.457_458del (p.Leu154fs) rs748393033
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.5423G>A (p.Gly1808Glu) rs765343914
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003793.4(CTSF):c.160C>A (p.Arg54=) rs776443007
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile) rs745852751
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005076.5(CNTN2):c.1975+10A>G rs773175563
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn) rs1581573970
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys) rs1595001710
NM_013254.4(TBK1):c.813-7A>C rs376075252
NM_014639.4(SKIC3):c.1783C>G (p.Pro595Ala) rs751343448
NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile) rs755895621
NM_015599.3(PGM3):c.521G>T (p.Arg174Leu) rs73749732
NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys) rs9895963
NM_018389.5(SLC35C1):c.402C>T (p.Cys134=) rs955606062
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) rs61746139
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr) rs1424788778
NM_020822.3(KCNT1):c.3174C>T (p.Ala1058=) rs2131577612
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_031483.7(ITCH):c.1570-3del rs759646195
NM_031844.2(HNRNPU):c.2166_2167+1delAGG rs575582638
NM_052813.5(CARD9):c.1312-13CT[2] rs770532797
NM_052813.5(CARD9):c.1434+1G>C rs141992399
NM_053025.4(MYLK):c.3832-8G>C rs202218458
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del) rs1057519183
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val) rs200402559
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198282.4(STING1):c.842G>A (p.Arg281Gln) rs1561482476
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_201596.3(CACNB2):c.1688G>A (p.Arg563Gln) rs766377211

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.