ClinVar Miner

List of variants studied for auditory system disease by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (549):
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ClinVar version:
Total variants: 125
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HGVS dbSNP
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000307.5(POU3F4):c.24C>T (p.Pro8=) rs756362293
NM_000307.5(POU3F4):c.708= (p.Glu236=) rs5921978
NM_000307.5(POU3F4):c.708_710= (p.Glu236_Ala237=)
NM_000307.5(POU3F4):c.710= (p.Ala237=) rs5921979
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705
NM_001039141.3(TRIOBP):c.2477C>T (p.Ser826Leu) rs41296243
NM_001039141.3(TRIOBP):c.3089C>G (p.Pro1030Arg) rs193043234
NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala) rs201730395
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser) rs201794404
NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=) rs375013523
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235
NM_001039213.4(CEACAM16):c.234C>T (p.Gly78=) rs73568059
NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr) rs750153629
NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr) rs370890913
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013
NM_001084.5(PLOD3):c.1179C>T (p.Ala393=) rs11546152
NM_001084.5(PLOD3):c.1233-4G>A rs2301903
NM_001084.5(PLOD3):c.1402C>G (p.Arg468Gly) rs75592752
NM_001084.5(PLOD3):c.1678G>C (p.Glu560Gln) rs140879834
NM_001084.5(PLOD3):c.1797G>A (p.Arg599=) rs139049819
NM_001084.5(PLOD3):c.1935+105T>G rs186082235
NM_001084.5(PLOD3):c.1977C>T (p.Asp659=) rs11546151
NM_001084.5(PLOD3):c.1986G>A (p.Pro662=) rs117761436
NM_001084.5(PLOD3):c.570C>T (p.Asp190=) rs35159414
NM_001084.5(PLOD3):c.887C>G (p.Pro296Arg) rs143577626
NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val) rs71535705
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile) rs202227661
NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe) rs201404168
NM_001128228.3(TPRN):c.1818GGA[8] (p.Glu621del) rs376810326
NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser) rs9411313
NM_001128228.3(TPRN):c.858C>T (p.Cys286=) rs375619082
NM_001145308.4(LRTOMT):c.-149C>T rs145851613
NM_001145308.4(LRTOMT):c.-52G>C rs149637884
NM_001145308.4(LRTOMT):c.623G>A (p.Arg208Gln) rs61741195
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133
NM_001146079.2(CLDN14):c.430G>A (p.Val144Met)
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564
NM_001256317.3(TMPRSS3):c.933C>T (p.Ala311=) rs145235893
NM_002700.3(POU4F3):c.378G>A (p.Thr126=) rs113137300
NM_004452.3(ESRRB):c.1156C>T (p.Pro386Ser) rs61742642
NM_004452.3(ESRRB):c.1438C>T (p.Pro480Ser) rs201448899
NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln) rs34287852
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg) rs61754640
NM_013296.5(GPSM2):c.478G>C (p.Gly160Arg) rs1557862489
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489
NM_016239.4(MYO15A):c.10431T>C (p.Tyr3477=) rs854800
NM_016239.4(MYO15A):c.10573A>G (p.Ser3525Gly) rs182332665
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr) rs2955365
NM_016239.4(MYO15A):c.1791G>A (p.Ala597=) rs114552047
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=) rs577023485
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly) rs2955367
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser) rs376451611
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro) rs372125621
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser) rs143316414
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214
NM_016239.4(MYO15A):c.3358C>T (p.Arg1120Cys) rs375451997
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=) rs59933498
NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=) rs114328138
NM_016239.4(MYO15A):c.458A>G (p.Gln153Arg) rs1597748342
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=) rs926074
NM_016239.4(MYO15A):c.4779+9G>A rs183256997
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu) rs58625281
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp) rs200146361
NM_016239.4(MYO15A):c.6550T>C (p.Cys2184Arg) rs1567649779
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) rs201540919
NM_016239.4(MYO15A):c.8339C>T (p.Thr2780Met) rs143826293
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608
NM_017433.5(MYO3A):c.3398+3A>G rs373758358
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs) rs752046945
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu) rs34204285
NM_017433.5(MYO3A):c.4848C>G (p.Ser1616=) rs56316209
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748
NM_024022.3(TMPRSS3):c.617-3_617-2insTA rs1601523730
NM_031475.3(ESPN):c.1248G>A (p.Pro416=) rs139332523
NM_031475.3(ESPN):c.935C>T (p.Ser312Leu) rs189442618
NM_032404.2(TMPRSS3):c.-151C>T rs139934512
NM_033380.3(COL4A5):c.1032+25G>A
NM_033380.3(COL4A5):c.1033-15del rs104886089
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=) rs2272945
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=) rs7884085
NM_033380.3(COL4A5):c.2349G>A (p.Pro783=) rs3747408
NM_033380.3(COL4A5):c.2768-11A>G rs1006269
NM_033380.3(COL4A5):c.3513A>G (p.Gln1171=) rs2273051
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=) rs61746140
NM_033380.3(COL4A5):c.438+36G>T
NM_033380.3(COL4A5):c.4618del (p.Asp1540fs) rs1603326561
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.609+21T>C rs6622333
NM_033380.3(COL4A5):c.875G>A (p.Gly292Glu) rs104886078
NM_033380.3(COL4A5):c.891+37A>G
NM_133261.3(GIPC3):c.69G>A (p.Ala23=) rs150473323
NM_144612.6(LOXHD1):c.141G>T (p.Val47=) rs749402939
NM_144612.6(LOXHD1):c.1605A>G (p.Ile535Met) rs770710016
NM_144612.6(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386
NM_144612.6(LOXHD1):c.1894G>T (p.Gly632Cys) rs35088381
NM_144612.6(LOXHD1):c.2370C>T (p.Asp790=) rs34723936
NM_144612.6(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521
NM_144612.6(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674
NM_144612.6(LOXHD1):c.4714C>A (p.Arg1572=) rs75949023
NM_144612.6(LOXHD1):c.5214-3C>T rs528236655
NM_144612.6(LOXHD1):c.966G>C (p.Gly322=) rs114082868
NM_144672.4(OTOA):c.2229C>T (p.Ala743=) rs461179
NM_144672.4(OTOA):c.2238G>A (p.Thr746=) rs72640475
NM_147196.2(TMIE):c.191C>T (p.Ser64Leu) rs189895472
NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del) rs10578999
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro) rs141952919
NM_198999.3(SLC26A5):c.292+8_292+9insGA

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