ClinVar Miner

List of variants reported as likely pathogenic for Rare genetic deafness

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 265
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HGVS dbSNP
NC_000006.12:g.(?_133506020)_(133528840_?)del
NC_000019.10:g.(?_36003337)_(36008681_?)del
NC_012920.1(MT-CYB):m.1027A>G rs727504555
NC_012920.1:m.1494C>T rs267606619
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val) rs111033286
NM_000260.4(MYO7A):c.1690+1G>A rs111033389
NM_000260.4(MYO7A):c.1833_1838dup (p.Gln613_Phe614insHisSer) rs397516290
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs) rs111033510
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) rs797044518
NM_000260.4(MYO7A):c.2094+1G>C rs111033404
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.284A>T (p.Tyr95Phe) rs797044489
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met) rs781811444
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.314T>G (p.Val105Gly) rs876657654
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.4(MYO7A):c.3532del (p.Gln1178fs) rs111033239
NM_000260.4(MYO7A):c.3533A>C (p.Gln1178Pro) rs111033482
NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs) rs111033390
NM_000260.4(MYO7A):c.3572G>A (p.Gly1191Asp) rs397516301
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) rs373169422
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181
NM_000260.4(MYO7A):c.4065del (p.His1355fs) rs111033202
NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro) rs397516310
NM_000260.4(MYO7A):c.4442-2A>C rs111033337
NM_000260.4(MYO7A):c.458G>A (p.Cys153Tyr) rs397516312
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.5327-11A>G rs397516316
NM_000260.4(MYO7A):c.5464A>C (p.Thr1822Pro) rs727504541
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323
NM_000260.4(MYO7A):c.587T>C (p.Leu196Pro) rs397516324
NM_000260.4(MYO7A):c.5945G>A (p.Gly1982Glu) rs111033250
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000307.5(POU3F4):c.1086_*3del (p.Ter362TrpextTer?) rs727503377
NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter) rs111033343
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr) rs397516335
NM_000307.5(POU3F4):c.968G>A (p.Arg323His) rs727505246
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443
NM_000441.1(SLC26A4):c.(?_305)_(415_?)dup (p.(?))
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) rs1293971731
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316
NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs) rs111033317
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257
NM_000441.2(SLC26A4):c.1707+6T>C rs727505230
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624
NM_000441.2(SLC26A4):c.397_398delinsA (p.Ser133fs) rs111033400
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000503.6(EYA1):c.1195dup (p.Leu399fs) rs1585820240
NM_000503.6(EYA1):c.1579T>A (p.Tyr527Asn) rs397517918
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_001031679.3(MSRB3):c.264-1G>A rs201306709
NM_001039213.4(CEACAM16):c.1186A>G (p.Thr396Ala) rs755154488
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter) rs750797779
NM_001080476.2(GRXCR1):c.784C>T (p.Arg262Ter) rs761349153
NM_001145308.4(LRTOMT):c.358+4A>C rs545947177
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001256317.3(TMPRSS3):c.1025G>A (p.Gly342Glu) rs397517368
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751
NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys) rs373058706
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His) rs137853000
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764
NM_001277269.1(OTOG):c.(?_3914)-61_(6474_?)+67del
NM_001277269.1(OTOG):c.2489_2490insACTGGACACCCA (p.Tyr830Ter) rs876657656
NM_001277269.1(OTOG):c.3493C>T (p.Arg1165Ter) rs772430523
NM_001277269.1(OTOG):c.4693G>T (p.Gly1565Ter) rs897822685
NM_001277269.1(OTOG):c.6591G>A (p.Trp2197Ter) rs1193023501
NM_001277269.1(OTOG):c.7621+2T>C rs1401870617
NM_001277269.2(OTOG):c.7389dup rs1157646266
NM_001292063.1(OTOG):c.499del (p.Val167fs) rs876657657
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) rs34547529
NM_001292063.2(OTOG):c.6712G>A (p.Gly2238Ser)
NM_001378609.3(OTOGL):c.3168G>A (p.Trp1056Ter)
NM_001378609.3(OTOGL):c.4082-1G>C
NM_001379180.1(ESRRB):c.1088_1089del (p.Val363fs) rs876657643
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.4045G>T (p.Glu1349Ter)
NM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp) rs113262912
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) rs1555666715
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_002700.3(POU4F3):c.384_387dup (p.Ser130fs) rs1581278366
NM_003672.4(CDC14A):c.520C>T (p.Arg174Ter) rs765155697
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.101T>G (p.Met34Arg) rs35887622
NM_004004.6(GJB2):c.109G>T (p.Val37Phe) rs72474224
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) rs111033296
NM_004004.6(GJB2):c.176G>A (p.Gly59Asp) rs104894404
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004086.3(COCH):c.260G>C (p.Gly87Ala) rs1555310861
NM_004100.5(EYA4):c.371-2A>C rs876657644
NM_004100.5(EYA4):c.456_459del (p.Ser153fs) rs1583345314
NM_004403.2(GSDME):c.(?_863)-60_(1257_?)+61del
NM_004452.3(ESRRB):c.(?_1)_(1527_?)del
NM_004452.3(ESRRB):c.(?_1501)_(1527_?)del (p.?)
NM_004452.3(ESRRB):c.1161G>A (p.Trp387Ter) rs727503041
NM_004452.3(ESRRB):c.1205_1209del (p.Thr402fs) rs727504577
NM_004452.3(ESRRB):c.745C>T (p.Arg249Ter) rs202023138
NM_004452.3(ESRRB):c.948dup (p.Leu317fs) rs1555344820
NM_004568.5(SERPINB6):c.679G>T (p.Glu227Ter) rs1201327476
NM_004700.4(KCNQ4):c.1667_1671dup (p.Val558fs) rs1553168601
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710
NM_004999.4(MYO6):c.1383G>C (p.Glu461Asp) rs727504548
NM_004999.4(MYO6):c.2111dup (p.Tyr705fs) rs397517045
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567
NM_004999.4(MYO6):c.258_259delinsCTTTACTAAA (p.Tyr87fs) rs1583208411
NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter) rs876657653
NM_004999.4(MYO6):c.3207_3212delinsATCCTACATACTTAAAATTTCTT (p.Ala1070fs) rs727505015
NM_004999.4(MYO6):c.535G>T (p.Asp179Tyr) rs1554205683
NM_004999.4(MYO6):c.737A>G (p.His246Arg) rs121912560
NM_005422.2(TECTA):c.2719C>T (p.Arg907Ter) rs764424917
NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531
NM_005422.2(TECTA):c.5235del (p.Ile1746fs) rs1229070290
NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) rs140236996
NM_005422.2(TECTA):c.5662A>G (p.Arg1888Gly) rs1591464171
NM_005422.2(TECTA):c.5692T>C (p.Cys1898Arg) rs1591464207
NM_005422.2(TECTA):c.6155G>A (p.Cys2052Tyr) rs727503467
NM_005422.2(TECTA):c.6163-2A>T rs876657661
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741
NM_006005.3(WFS1):c.2508G>C (p.Lys836Asn) rs876657675
NM_006941.4(SOX10):c.401T>C (p.Leu134Pro) rs876657660
NM_006941.4(SOX10):c.424T>C (p.Trp142Arg) rs1555939408
NM_007123.5(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_013296.5(GPSM2):c.459_460del (p.Ala154fs) rs727505300
NM_015340.3(LARS2):c.(?_2533)-70_*(70_?)del
NM_015340.4(LARS2):c.1520C>G (p.Pro507Arg) rs1553635112
NM_016239.3(MYO15A):c.8183G>A rs184435771
NM_016239.4(MYO15A):c.3006del (p.Lys1003fs)
NM_016239.4(MYO15A):c.3795C>A (p.Tyr1265Ter) rs1597768378
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg)
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785
NM_016239.4(MYO15A):c.6610C>T (p.Arg2204Cys) rs727503312
NM_016239.4(MYO15A):c.6764+2T>A rs763975867
NM_016239.4(MYO15A):c.6788G>A (p.Gly2263Asp) rs397517285
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu) rs886052676
NM_016239.4(MYO15A):c.6893G>A (p.Arg2298Gln) rs1001523088
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080
NM_017433.5(MYO3A):c.2263-2A>C rs1554833178
NM_017433.5(MYO3A):c.3274+1G>T
NM_017433.5(MYO3A):c.4545+1G>C rs876657652
NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del) rs397517305
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) rs727504455
NM_022124.6(CDH23):c.2701G>A (p.Glu901Lys) rs876657636
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253
NM_022124.6(CDH23):c.6412del (p.Glu2138fs) rs111033473
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472
NM_022124.6(CDH23):c.7921G>C (p.Asp2641His) rs397517354
NM_024022.3(TMPRSS3):c.1306C>T (p.Arg436Cys) rs565348874
NM_032119.4(ADGRV1):c.10229_10231dup (p.Val3410dup) rs397517418
NM_032119.4(ADGRV1):c.12101T>G (p.Phe4034Cys) rs876657647
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924
NM_033056.4(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.3116G>T (p.Gly1039Val) rs1554216943
NM_080680.3(COL11A2):c.4943A>T (p.His1648Leu) rs1487325262
NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) rs727503062
NM_138691.2(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943
NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys) rs372710475
NM_138691.2(TMC1):c.674C>T rs370088722
NM_138691.3(TMC1):c.741+1G>A rs1588067173
NM_144612.6(LOXHD1):c.2244+2T>G rs1555681351
NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634
NM_147196.2(TMIE):c.211+3G>C rs397517865
NM_147196.2(TMIE):c.251G>T (p.Arg84Leu) rs397517866
NM_153700.2(STRC):c.2141T>C (p.Leu714Pro) rs776039868
NM_153700.2(STRC):c.3128_3138+5del rs1555447538
NM_153700.2(STRC):c.4171C>G rs376104748
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443
NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala) rs1336307815
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) rs397517925
NM_173591.3(OTOGL):c.1051C>T (p.Arg351Ter) rs368844341
NM_173591.3(OTOGL):c.12G>A (p.Trp4Ter) rs1191512072
NM_173591.3(OTOGL):c.4574-2A>G rs368266167
NM_173591.3(OTOGL):c.4993_4997del (p.Asn1665fs) rs1592726662
NM_173591.3(OTOGL):c.814_815del (p.Met272fs) rs876657658
NM_173591.3:c.825_4834-43del
NM_173591.4(OTOGL):c.4314del (p.Met1438fs) rs766971906
NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg) rs111033434
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) rs777297575
NM_182548.4(LHFPL5):c.89dup (p.Thr31fs) rs756030149
NM_194248.2(OTOF):c.5193-1G>A rs111033373
NM_194248.3(OTOF):c.*129del rs727505359
NM_194248.3(OTOF):c.1045+2T>G rs111033341
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter)
NM_194248.3(OTOF):c.2370_2371insA (p.Asp791fs) rs111033370
NM_194248.3(OTOF):c.4228-1G>A rs111033342
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349
NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del) rs397515607
NM_194248.3(OTOF):c.5575_5576del (p.Lys1859fs) rs111033446
NM_194248.3(OTOF):c.5713-2A>G rs111033455
NM_194248.3(OTOF):c.5925del (p.Leu1976fs) rs111033384
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter) rs111033447
NM_194248.3(OTOF):c.839del (p.Gly280fs)
NM_206933.2(USH2A):c.9335_9371+8063del
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376
NM_206933.3(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.11231+1G>T rs111033382
NM_206933.4(USH2A):c.1227G>C (p.Trp409Cys) rs397517979
NM_206933.4(USH2A):c.12294+1G>C rs111033526
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) rs111033417
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549
NM_206933.4(USH2A):c.3158-6A>G rs397518010
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263

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