ClinVar Miner

List of variants reported as pathogenic for auditory system disease by GeneReviews

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 360
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HGVS dbSNP
NC_000013.11:g.20365207_20496559del
NC_000018.9(TXNL4A):g.77748604_77748637del34 rs786205699
NC_000018.9:g.73376178_78077248del4701071
NC_000018.9:g.76841645_78077248del1235604
NC_000018.9:g.76854774_78077248del1222475
NC_000018.9:g.77421290_77904990del483701
NC_000018.9:g.77733765C>A rs727502793
NC_000018.9:g.77748262delA rs727502795
NC_000018.9:g.77748356G>A rs727502794
NC_000018.9:g.77748581_77748614del34 rs535089924
NC_012920.1:m.1494C>T rs267606619
NC_012920.1:m.1555A>G rs267606617
NC_012920.1:m.7443A>G rs397507452
NC_012920.1:m.7444G>A rs199474822
NC_012920.1:m.7445A>G rs199474818
NC_012920.1:m.7445A>T rs199474818
NC_012920.1:m.7462C>T rs1569484151
NC_012920.1:m.7471dup rs111033319
NC_012920.1:m.7505T>C rs724159989
NC_012920.1:m.8483_13459del4977
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro) rs876657416
NM_000260.4(MYO7A):c.223del (p.Asp75fs) rs876657415
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser) rs782384464
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.4(ERCC2):c.2048G>A rs758439420
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) rs780320724
NM_001110219.3(GJB6):c.14C>T (p.Thr5Met) rs104894414
NM_001354689.3(RAF1):c.1516G>A (p.Asp506Asn) rs80338798
NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) rs80338799
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_001374258.1(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_001384140.1(PCDH15):c.4368-1895_4368-1893del rs113363047
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) rs121912885
NM_001851.5(COL9A1):c.883C>T (p.Arg295Ter) rs121912931
NM_001852.4(COL9A2):c.843_846+4del rs606231376
NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter) rs886039224
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) rs80338675
NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) rs80338676
NM_002834.4(PTPN11):c.836A>C (p.Tyr279Ser) rs121918456
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_003611.2(OFD1):c.(?_-311)_1542+?del
NM_003611.2(OFD1):c.(?_-359)_(*253_?)del
NM_003611.2(OFD1):c.(?_-360)_828+?del
NM_003611.2(OFD1):c.1222-?_(*_?)del
NM_003611.2(OFD1):c.2261-?_2387+?del
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.2(OFD1):c.313dupG (p.Val105Glyfs) rs312262823
NM_003611.2(OFD1):c.518-?_935+?del
NM_003611.2(OFD1):c.936-?_1129+?del
NM_003611.2:c.1051-2>G
NM_003611.2:c.1056C>G
NM_003611.2:c.2388+1G>C
NM_003611.3(OFD1):c.1056-2A>T rs312262861
NM_003611.3(OFD1):c.1071_1078delinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) rs312262862
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter) rs312262863
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864
NM_003611.3(OFD1):c.111+2T>C rs312262809
NM_003611.3(OFD1):c.111G>A (p.Lys37=) rs312262808
NM_003611.3(OFD1):c.111G>C (p.Lys37Asn) rs312262808
NM_003611.3(OFD1):c.1130-22_1130-19del rs312262865
NM_003611.3(OFD1):c.1178dup (p.Glu394fs) rs312262866
NM_003611.3(OFD1):c.1185del (p.Glu395fs) rs312262867
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1220_1221+1del rs312262869
NM_003611.3(OFD1):c.1221+1del rs312262870
NM_003611.3(OFD1):c.1268_1272del (p.Gln423fs) rs312262871
NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg) rs122460150
NM_003611.3(OFD1):c.1318del (p.Leu439_Leu440insTer) rs312262872
NM_003611.3(OFD1):c.1319del (p.Leu440fs) rs312262873
NM_003611.3(OFD1):c.1322_1326del (p.Lys441fs) rs312262874
NM_003611.3(OFD1):c.1323_1326del (p.Glu442fs) rs312262875
NM_003611.3(OFD1):c.1334_1335del (p.Leu445fs) rs312262876
NM_003611.3(OFD1):c.1358T>A (p.Leu453Ter) rs312262877
NM_003611.3(OFD1):c.1360_1363del (p.Leu454fs) rs312262878
NM_003611.3(OFD1):c.1409del (p.Asn470fs) rs312262879
NM_003611.3(OFD1):c.1420C>T (p.Gln474Ter) rs312262880
NM_003611.3(OFD1):c.1445_1446del (p.Phe482fs) rs312262881
NM_003611.3(OFD1):c.1452_1458del (p.Lys484fs) rs312262882
NM_003611.3(OFD1):c.147dup (p.His50fs) rs886039858
NM_003611.3(OFD1):c.1587del (p.Ala530fs) rs312262883
NM_003611.3(OFD1):c.1612C>T (p.Gln538Ter) rs886039864
NM_003611.3(OFD1):c.162_166del (p.Ser54fs) rs312262811
NM_003611.3(OFD1):c.1757del (p.Ser586fs) rs312262884
NM_003611.3(OFD1):c.1821del (p.Ile608fs) rs312262885
NM_003611.3(OFD1):c.1888_1889insTA (p.Asn630fs) rs312262886
NM_003611.3(OFD1):c.1979_1980del (p.Ser660fs) rs312262887
NM_003611.3(OFD1):c.1991dup (p.Leu665fs) rs886039865
NM_003611.3(OFD1):c.2044dup (p.Ile682fs) rs312262888
NM_003611.3(OFD1):c.2056del (p.Ser686fs) rs312262889
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) rs312262890
NM_003611.3(OFD1):c.2176del (p.Arg726fs) rs312262891
NM_003611.3(OFD1):c.221C>T (p.Ser74Phe) rs312262812
NM_003611.3(OFD1):c.224A>C (p.Asn75Thr) rs312262813
NM_003611.3(OFD1):c.2261-1G>T rs312262892
NM_003611.3(OFD1):c.2349del (p.Ile784fs) rs312262893
NM_003611.3(OFD1):c.235G>A (p.Ala79Thr) rs312262814
NM_003611.3(OFD1):c.241C>G (p.His81Asp) rs312262815
NM_003611.3(OFD1):c.243C>G (p.His81Gln) rs312262816
NM_003611.3(OFD1):c.247C>T (p.Gln83Ter) rs312262817
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.274T>C (p.Ser92Pro) rs312262819
NM_003611.3(OFD1):c.275_276del (p.Ser92fs) rs886039859
NM_003611.3(OFD1):c.290A>G (p.Glu97Gly) rs312262820
NM_003611.3(OFD1):c.294_312del (p.Ser98fs) rs312262821
NM_003611.3(OFD1):c.312+3_312+9del rs397507557
NM_003611.3(OFD1):c.337C>T (p.Gln113Ter) rs312262825
NM_003611.3(OFD1):c.372C>G (p.Tyr124Ter) rs312262826
NM_003611.3(OFD1):c.382-2A>G rs312262829
NM_003611.3(OFD1):c.382-3C>G rs312262828
NM_003611.3(OFD1):c.384_412+2del
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.411del (p.Gly138fs) rs312262831
NM_003611.3(OFD1):c.412+2del rs312262832
NM_003611.3(OFD1):c.412G>A (p.Gly138Ser) rs312262827
NM_003611.3(OFD1):c.413-10T>G rs312262833
NM_003611.3(OFD1):c.422T>G (p.Met141Arg) rs886039860
NM_003611.3(OFD1):c.431T>A (p.Leu144Ter) rs312262835
NM_003611.3(OFD1):c.431dup (p.Leu144fs) rs312262834
NM_003611.3(OFD1):c.43_44del (p.Gln16fs) rs312262806
NM_003611.3(OFD1):c.454C>T (p.Gln152Ter) rs312262836
NM_003611.3(OFD1):c.508_509del (p.Asp170fs) rs886039861
NM_003611.3(OFD1):c.518-1G>A rs886039862
NM_003611.3(OFD1):c.52G>T (p.Glu18Ter) rs886039857
NM_003611.3(OFD1):c.541dup (p.Asp181fs) rs886039863
NM_003611.3(OFD1):c.594_598del (p.Lys199_Leu200insTer) rs312262837
NM_003611.3(OFD1):c.602del (p.Asn201fs) rs312262838
NM_003611.3(OFD1):c.616_617del (p.Glu206fs) rs312262840
NM_003611.3(OFD1):c.619_624del (p.Ile207_Glu208del) rs312262839
NM_003611.3(OFD1):c.628C>T (p.Gln210Ter) rs312262841
NM_003611.3(OFD1):c.62_63insT (p.Lys21fs) rs886039856
NM_003611.3(OFD1):c.653del (p.Lys218fs) rs312262842
NM_003611.3(OFD1):c.654+2_654+4del rs397507558
NM_003611.3(OFD1):c.65dup (p.Leu23fs) rs312262807
NM_003611.3(OFD1):c.675del (p.Glu226fs) rs312262844
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) rs398122866
NM_003611.3(OFD1):c.707_719del (p.Lys236fs) rs312262846
NM_003611.3(OFD1):c.709_710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_003611.3(OFD1):c.712del (p.Tyr238fs) rs312262849
NM_003611.3(OFD1):c.790dup (p.Glu264fs) rs312262850
NM_003611.3(OFD1):c.823C>T (p.Gln275Ter) rs312262851
NM_003611.3(OFD1):c.839_840del (p.Lys280fs) rs312262852
NM_003611.3(OFD1):c.840_844del (p.Lys280fs) rs312262853
NM_003611.3(OFD1):c.843_844del (p.Glu281fs) rs312262855
NM_003611.3(OFD1):c.858del (p.Arg286fs) rs312262856
NM_003611.3(OFD1):c.871A>T (p.Lys291Ter) rs312262857
NM_003611.3(OFD1):c.877_878del (p.Met293fs) rs312262858
NM_003611.3(OFD1):c.898_899dup (p.Ala301fs) rs312262859
NM_003611.3(OFD1):c.919del (p.Val307fs) rs312262860
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>C (p.Trp44Ser) rs104894413
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys) rs104894407
NM_004004.6(GJB2):c.136G>A (p.Asp46Asn) rs1064797088
NM_004004.6(GJB2):c.164C>A (p.Thr55Asn) rs1064797089
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.172C>G (p.Pro58Ala) rs1064797090
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.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
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.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.487A>C (p.Met163Leu) rs80338949
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn) rs28931595
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) rs104894406
NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter) rs80356559
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp) rs80356560
NM_004700.4(KCNQ4):c.211del (p.Gln71fs) rs80358272
NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs) rs80358271
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) rs80358277
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys) rs28937588
NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg) rs137853969
NM_005247.4(FGF3):c.146A>G (p.Tyr49Cys) rs281860300
NM_005247.4(FGF3):c.150C>A (p.Cys50Ter) rs281860301
NM_005247.4(FGF3):c.17T>C (p.Leu6Pro) rs121917706
NM_005247.4(FGF3):c.196G>T (p.Gly66Cys) rs121917705
NM_005247.4(FGF3):c.255del (p.Ile85fs) rs281860302
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp) rs281860303
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter) rs121917704
NM_005247.4(FGF3):c.317A>G (p.Tyr106Cys) rs281860306
NM_005247.4(FGF3):c.394del (p.Arg132fs) rs281860304
NM_005247.4(FGF3):c.457_458del (p.Trp153fs) rs281860307
NM_005247.4(FGF3):c.466T>C (p.Ser156Pro) rs121917703
NM_005247.4(FGF3):c.616del (p.Val206fs) rs281860305
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_005982.4(SIX1):c.317T>G (p.Val106Gly) rs397515560
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) rs80356459
NM_005982.4(SIX1):c.334C>T (p.Arg112Cys) rs397515561
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_005982.4(SIX1):c.397_399del (p.Glu133del) rs80356460
NM_005982.4(SIX1):c.50T>A (p.Val17Glu) rs397515562
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) rs145415848
NM_006701.2:c.Exon 3 deletion
NM_006701.5(TXNL4A):c.153+3A>G rs879255559
NM_006701.5(TXNL4A):c.154-959_257+638del
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353
NM_032229.3(SLITRK6):c.1240C>T (p.Gln414Ter) rs587777069
NM_032229.3(SLITRK6):c.541C>T (p.Arg181Ter) rs587777071
NM_032229.3(SLITRK6):c.890C>A (p.Ser297Ter) rs587777070
NM_033056.4(PCDH15):c.158-1G>A rs876657418
NM_033056.4(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_033056.4(PCDH15):c.394dup (p.Glu132fs) rs397515566
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
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.5048G>A (p.Arg1683Gln) rs104886308
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_173477.5(USH1G):c.394dup (p.Val132fs) rs587776546
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345
NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg) rs80356463
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met) rs80356464
NM_175875.5(SIX5):c.472G>A (p.Ala158Thr) rs80356461
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr) rs80356462
NM_182476.3(COQ6):c.1058C>A (p.Ala353Asp) rs397514479
NM_182476.3(COQ6):c.1235A>G (p.Tyr412Cys) rs374270071
NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter) rs1057519351
NM_182476.3(COQ6):c.1383del (p.Ile462fs) rs1057519352
NM_182476.3(COQ6):c.484C>T (p.Arg162Ter) rs189840848
NM_182476.3(COQ6):c.564G>A (p.Trp188Ter) rs1057519349
NM_182476.3(COQ6):c.763G>A (p.Gly255Arg) rs1057519350
NM_194248.1:c.1912-2C>T
NM_194248.1:c.2295_2297delG
NM_194248.1:c.3704-3720delACCGCTCGGCCCCCAG
NM_194248.1:c.5860_5862delATC
NM_194248.1:c.766-2T>A
NM_194248.2(OTOF):c.4227+1G>T rs397515601
NM_194248.2(OTOF):c.5098G>C rs199766465
NM_194248.3(OTOF):c.1103_1104delinsC (p.Gly368fs) rs397515579
NM_194248.3(OTOF):c.1180dup (p.Glu394fs) rs397515580
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter) rs397515582
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln) rs80356585
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs) rs1443739332
NM_194248.3(OTOF):c.1601del (p.Pro534fs) rs397515583
NM_194248.3(OTOF):c.1607G>A (p.Trp536Ter) rs397515584
NM_194248.3(OTOF):c.1609del (p.Trp536_Val537insTer) rs397515585
NM_194248.3(OTOF):c.1651del (p.Glu551fs) rs80356587
NM_194248.3(OTOF):c.1718T>G (p.Leu573Arg) rs397515586
NM_194248.3(OTOF):c.1740del (p.Ser581fs) rs397515587
NM_194248.3(OTOF):c.1780G>A (p.Glu594Lys) rs397515588
NM_194248.3(OTOF):c.1841G>A (p.Gly614Glu) rs397515589
NM_194248.3(OTOF):c.1886dup (p.Pro630fs) rs80356588
NM_194248.3(OTOF):c.1966del (p.Arg656fs) rs397515590
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2214+1G>T rs80356589
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.2316C>A (p.Cys772Ter) rs397515592
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592
NM_194248.3(OTOF):c.2649C>A (p.Cys883Ter) rs397515593
NM_194248.3(OTOF):c.2684_2685del (p.Gly895fs) rs397515594
NM_194248.3(OTOF):c.2732_2735dup (p.Tyr913fs) rs397515595
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595
NM_194248.3(OTOF):c.2891C>A (p.Ala964Glu) rs201329629
NM_194248.3(OTOF):c.2905_2923delinsCTCCGAGCGCA (p.Ala969fs) rs397515596
NM_194248.3(OTOF):c.2991+1G>A rs80356594
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro) rs80356596
NM_194248.3(OTOF):c.3239G>C (p.Arg1080Pro) rs397515598
NM_194248.3(OTOF):c.3269C>A (p.Ala1090Glu) rs370609551
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro) rs397515599
NM_194248.3(OTOF):c.3571-2A>C rs80356597
NM_194248.3(OTOF):c.4157C>T (p.Thr1386Ile) rs397515600
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter) rs80356598
NM_194248.3(OTOF):c.4351G>T (p.Gly1451Ter) rs397515602
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) rs80356600
NM_194248.3(OTOF):c.4500+2T>G rs80356599
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) rs143939430
NM_194248.3(OTOF):c.4960+1G>C rs80356602
NM_194248.3(OTOF):c.5011dup (p.Trp1671fs) rs397515604
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys) rs397515605
NM_194248.3(OTOF):c.5384T>G (p.Phe1795Cys) rs397515606
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala) rs28937591
NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln) rs397515608
NM_194248.3(OTOF):c.5712+1G>A rs80356604
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605
NM_194248.3(OTOF):c.5960C>G (p.Pro1987Arg) rs80356606
NM_194248.3(OTOF):c.709C>T (p.Arg237Ter) rs397515610
NM_194248.3(OTOF):c.765G>C (p.Gln255His) rs397515611
NM_194248.3(OTOF):c.766-2A>G rs80356584
NP_000251.3(MYO7A):p.Tyr1302fsTer97
NP_003602.1:p.Ser620Cysfs*8
Single allele
c.667_684del(664_681del)
c.725G>A
del(15)(q15.1-q15.3)
del(GJB6-D13S1830)
m.7445A>C rs199474818
m.7510T>C rs199474820
m.7511T>C rs199474821

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