ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive nonsyndromic deafness

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ClinVar version:
Total variants: 159
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HGVS dbSNP
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) rs781951909
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) rs781989117
NM_000260.4(MYO7A):c.2339del (p.Gly780fs) rs1565402473
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.3136dup (p.Leu1046fs)
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro) rs1565430886
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg) rs750358148
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623
NM_000260.4(MYO7A):c.496del (p.Glu166fs) rs111033448
NM_000260.4(MYO7A):c.5326+3A>G rs1565469959
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) rs377267777
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg) rs746667217
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180
NM_000260.4(MYO7A):c.5856+5G>C rs1386887007
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437
NM_000441.2(SLC26A4):c.1264-3C>G rs1562835391
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter) rs1562817529
NM_000441.2(SLC26A4):c.2106del (p.Lys702fs)
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val) rs1562822565
NM_000441.2(SLC26A4):c.413T>A (p.Val138Asp)
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
NM_000441.2(SLC26A4):c.42del (p.Glu15fs) rs1562817224
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu)
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly) rs387907088
NM_001038603.3(MARVELD2):c.1138C>T (p.Gln380Ter)
NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs) rs1561299289
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs)
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) rs1569042782
NM_001042702.4(PJVK):c.158C>G (p.Ser53Ter) rs538027448
NM_001042702.4(PJVK):c.162_172del (p.Pro55fs) rs1559366084
NM_001042702.4(PJVK):c.406C>T (p.Arg136Ter) rs367688416
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del) rs1559372512
NM_001080476.2(GRXCR1):c.229C>T (p.Gln77Ter) rs267606855
NM_001080476.2(GRXCR1):c.655G>A (p.Glu219Lys) rs1560690591
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) rs781214034
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter) rs267607135
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs) rs1565819402
NM_001145026.2(PTPRQ):c.6739-1G>A rs1565855932
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) rs74315437
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) rs1226171550
NM_001199799.2(ILDR1):c.1137del (p.Glu379fs)
NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs) rs1559870857
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) rs775062249
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile) rs387907016
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg)
NM_001256317.3(TMPRSS3):c.271C>T (p.Arg91Ter)
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001256317.3(TMPRSS3):c.581G>T (p.Cys194Phe)
NM_001256317.3(TMPRSS3):c.767C>T (p.Ala256Val)
NM_001277269.1(OTOG):c.7235del (p.Cys2412fs) rs1565127413
NM_001354587.1(ANKRD36):c.2479-1G>A
NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg)
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His)
NM_002700.3(POU4F3):c.374C>T (p.Pro125Leu) rs1561590396
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.355G>T (p.Glu119Ter) rs150529554
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val) rs1557458426
NM_004447.6(EPS8):c.205-8A>G rs180899529
NM_005422.2(TECTA):c.1247_1248del (p.Gly416fs) rs773573968
NM_005422.2(TECTA):c.1774G>A (p.Val592Met) rs1565522273
NM_005422.2(TECTA):c.2736C>A (p.Cys912Ter) rs368050948
NM_005422.2(TECTA):c.6162+5G>A rs1565541888
NM_005422.2(TECTA):c.840_841insT (p.Val281fs) rs1565519673
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) rs397515411
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp) rs370965183
NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu) rs755804651
NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs) rs1564113368
NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter)
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) rs781546107
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter) rs779077039
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter) rs1209665716
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter) rs1567641234
NM_016239.4(MYO15A):c.8224+3A>G rs1057519605
NM_016366.3(CABP2):c.637+1G>T rs149712664
NM_016929.5(CLIC5):c.644G>A (p.Trp215Ter) rs1043716893
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) rs397517323
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) rs121908350
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269
NM_022124.6(CDH23):c.5149T>C (p.Cys1717Arg)
NM_022124.6(CDH23):c.6049+1G>A rs111033247
NM_022124.6(CDH23):c.6050-9G>A rs367928692
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) rs762118583
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser)
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)
NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs) rs1564805114
NM_024022.3(TMPRSS3):c.783-1G>T rs1237955948
NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer) rs754472294
NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu) rs765574676
NM_033056.4(PCDH15):c.788C>A (p.Pro263Gln) rs1564949059
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144
NM_133261.3(GIPC3):c.662C>T (p.Thr221Ile)
NM_138691.2(TMC1):c.1114G>A (p.Val372Met) rs367924428
NM_138691.2(TMC1):c.1143C>G (p.Tyr381Ter) rs757327146
NM_138691.2(TMC1):c.1209G>A (p.Trp403Ter) rs773851192
NM_138691.2(TMC1):c.1224+2T>C rs1564555240
NM_138691.2(TMC1):c.1259G>A (p.Cys420Tyr) rs1564556995
NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys) rs372710475
NM_138691.2(TMC1):c.1543T>C (p.Cys515Arg) rs121908076
NM_138691.2(TMC1):c.1728C>G (p.Asn576Lys) rs761261855
NM_138691.2(TMC1):c.1810C>T rs777777359
NM_138691.2(TMC1):c.596A>T (p.Asn199Ile) rs756960425
NM_138691.2(TMC1):c.945G>A (p.Trp315Ter) rs1564554255
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073
NM_138691.3(TMC1):c.1363T>C (p.Tyr455His)
NM_138691.3(TMC1):c.1753_1754insA (p.Gly585fs)
NM_138691.3(TMC1):c.1788C>A (p.Ser596Arg)
NM_138691.3(TMC1):c.2035G>A (p.Glu679Lys)
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp) rs200656442
NM_144672.4(OTOA):c.2120C>T (p.Ala707Val) rs145160241
NM_147196.2(TMIE):c.241C>T (p.Arg81Cys) rs28942096
NM_147196.2(TMIE):c.250C>T (p.Arg84Trp) rs28942097
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631
NM_173477.5(USH1G):c.812del (p.Pro271fs) rs1567939793
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer) rs779841884
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val) rs762876554
NM_194248.3(OTOF):c.*19C>T rs530821443
NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro) rs1558490542
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp) rs1558488902
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del) rs1423777622
NM_194248.3(OTOF):c.3376dup (p.Ile1126fs) rs1558480402
NM_194248.3(OTOF):c.4799+1G>A rs200147906
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) rs143939430
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys) rs397515605
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val) rs1558464965
NM_206933.3(USH2A):c.3661C>T (p.Gln1221Ter) rs767797828

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