ClinVar Miner

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

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.10431T>C (p.Tyr3477=) rs854800 0.78890
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr) rs2955365 0.39950
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly) rs2955367 0.34123
NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser) rs9411313 0.27092
NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln) rs34287852 0.16898
NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser) rs61742642 0.06008
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133 0.04508
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_144672.4(OTOA):c.2229C>T (p.Ala743=) rs461179 0.03046
NM_017433.5(MYO3A):c.4848C>G (p.Ser1616=) rs56316209 0.02444
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564 0.02161
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro) rs372125621 0.02081
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.02057
NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=) rs114328138 0.01906
NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val) rs71535705 0.01715
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=) rs34723936 0.01692
NM_001039141.3(TRIOBP):c.2477C>T (p.Ser826Leu) rs41296243 0.01649
NM_001128228.3(TPRN):c.1073T>C (p.Leu358Pro) rs60910563 0.01648
NM_016239.4(MYO15A):c.9708G>A (p.Val3236=) rs115393178 0.01622
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_144672.4(OTOA):c.2238G>A (p.Thr746=) rs72640475 0.01270
NM_144672.4(OTOA):c.1105-17G>A rs73549643 0.01254
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748 0.01220
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser) rs143316414 0.01192
NM_001128228.3(TPRN):c.858C>T (p.Cys286=) rs375619082 0.01068
NM_016239.4(MYO15A):c.1791G>A (p.Ala597=) rs114552047 0.01041
NM_001256317.3(TMPRSS3):c.617-18C>T rs225431 0.00940
NM_001039141.3(TRIOBP):c.3089C>G (p.Pro1030Arg) rs193043234 0.00922
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172 0.00765
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=) rs577023485 0.00762
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_001393500.2(TOMT):c.524G>A (p.Arg175Gln) rs61741195 0.00743
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=) rs75949023 0.00656
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_144672.4(OTOA):c.121-20G>A rs7187792 0.00516
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=) rs181591912 0.00482
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg) rs149637884 0.00473
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=) rs59933498 0.00463
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=) rs182293382 0.00413
NM_016239.4(MYO15A):c.8339C>T (p.Thr2780Met) rs143826293 0.00394
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro) rs61731652 0.00334
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831 0.00280
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro) rs141952919 0.00271
NM_016239.4(MYO15A):c.4779+9G>A rs183256997 0.00264
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_145309.6(LRRC51):c.255C>T (p.Asp85=) rs145851613 0.00232
NM_016239.4(MYO15A):c.7655-7C>G rs191171943 0.00211
NM_016239.4(MYO15A):c.10443G>A (p.Ala3481=) rs190486507 0.00208
NM_002700.3(POU4F3):c.378G>A (p.Thr126=) rs113137300 0.00205
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp) rs200146361 0.00205
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=) rs926074 0.00155
NM_001256317.3(TMPRSS3):c.933C>T (p.Ala311=) rs145235893 0.00153
NM_016239.4(MYO15A):c.10573A>G (p.Ser3525Gly) rs182332665 0.00151
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met) rs140140417 0.00139
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=) rs375013523 0.00137
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu) rs34204285 0.00134
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser) rs376451611 0.00132
NM_001256317.3(TMPRSS3):c.231C>T (p.Tyr77=) rs139934512 0.00125
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser) rs201794404 0.00115
NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala) rs201730395 0.00103
NM_001379180.1(ESRRB):c.*1546C>T rs201448899 0.00088
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu) rs58625281 0.00087
NM_004700.4(KCNQ4):c.972G>A (p.Leu324=) rs137896524 0.00085
NM_017433.5(MYO3A):c.1242A>T (p.Gly414=) rs3758442 0.00083
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065 0.00078
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=) rs139074745 0.00058
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp) rs140567004 0.00050
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182 0.00041
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00036
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) rs201540919 0.00034
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_017433.5(MYO3A):c.426T>G (p.His142Gln) rs189595832 0.00029
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln) rs199783506 0.00026
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031 0.00026
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu) rs189895472 0.00026
NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr) rs750153629 0.00019
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile) rs202227661 0.00015
NM_017433.5(MYO3A):c.3398+3A>G rs373758358 0.00015
NM_031475.3(ESPN):c.935C>T (p.Ser312Leu) rs189442618 0.00012
NM_000307.5(POU3F4):c.24C>T (p.Pro8=) rs756362293 0.00005
NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr) rs370890913 0.00005
NM_001128228.3(TPRN):c.1725+5G>A rs373827566 0.00004
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998 0.00004
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met) rs770710016 0.00003
NM_016239.4(MYO15A):c.5261G>A (p.Arg1754His) rs544020493 0.00002
NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe) rs201404168 0.00001
NM_001146079.2(CLDN14):c.430G>A (p.Val144Met) rs764077250 0.00001
NM_001384474.1(LOXHD1):c.141G>T (p.Val47=) rs749402939 0.00001
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.6472+13_6472+14insT rs541980281
NM_001039141.3(TRIOBP):c.6472+14_6472+15insC rs546389039
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583
NM_001128228.3(TPRN):c.1818GGA[8] (p.Glu621del) rs376810326
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=) rs368683058
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys) rs35088381
NM_002906.4(RDX):c.1501T>C (p.Ser501Pro)
NM_016239.4(MYO15A):c.3358C>T (p.Arg1120Cys) rs375451997
NM_016239.4(MYO15A):c.458A>G (p.Gln153Arg) rs1597748342
NM_016239.4(MYO15A):c.6550T>C (p.Cys2184Arg) rs1567649779
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs) rs752046945
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432
NM_133261.3(GIPC3):c.69G>A (p.Ala23=) rs150473323
NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del) rs10578999

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