ClinVar Miner

List of variants reported as pathogenic for auditory system disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP
NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) rs121434324
NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.4(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.4(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.4(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.4(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000091.5(COL4A3):c.345del rs749390823
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.175G>C (p.Gly59Arg) rs104894410
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_033056.4(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_033056.4(PCDH15):c.1940C>G (p.Ser647Ter) rs137853004
NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys) rs281874761
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_174878.3(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267
NM_174878.3(CLRN1):c.528T>G (p.Tyr176Ter) rs121908140
NM_181798.1(KCNQ1):c.434G>A (p.Gly145Asp) rs199472726
NM_206933.3(USH2A):c.13274C>T (p.Thr4425Met) rs201238640
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041

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