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: 310
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031 0.00026
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter) rs368844341 0.00016
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042 0.00009
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met) rs781811444 0.00007
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_001039141.3(TRIOBP):c.629-1G>C rs766809690 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) rs797044518 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter) rs750797779 0.00004
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter) rs772430523 0.00004
NM_001292063.2(OTOG):c.6712G>A (p.Gly2238Ser) rs763848795 0.00004
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu) rs886052676 0.00004
NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg) rs111033434 0.00004
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_001039141.3(TRIOBP):c.5317C>T (p.Arg1773Ter) rs368112491 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_001039213.4(CEACAM16):c.1186A>G (p.Thr396Ala) rs755154488 0.00002
NM_001145308.5(LRTOMT):c.358+4A>C rs545947177 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001378609.3(OTOGL):c.4082-1G>C rs756233978 0.00002
NM_001378609.3(OTOGL):c.4601-2A>G rs368266167 0.00002
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) rs111033296 0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_138691.3(TMC1):c.674C>T (p.Pro225Leu) rs370088722 0.00002
NM_153700.2(STRC):c.2141T>C (p.Leu714Pro) rs776039868 0.00002
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.5713-2A>G rs111033455 0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376 0.00002
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557 0.00001
NM_000260.4(MYO7A):c.4065del (p.His1355fs) rs111033202 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.5945G>A (p.Gly1982Glu) rs111033250 0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) rs1293971731 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_001080476.3(GRXCR1):c.784C>T (p.Arg262Ter) rs761349153 0.00001
NM_001256317.3(TMPRSS3):c.1025G>A (p.Gly342Glu) rs397517368 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys) rs373058706 0.00001
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His) rs137853000 0.00001
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764 0.00001
NM_001292063.2(OTOG):c.4657G>T (p.Gly1553Ter) rs897822685 0.00001
NM_001292063.2(OTOG):c.6555G>A (p.Trp2185Ter) rs1193023501 0.00001
NM_001378609.3(OTOGL):c.39G>A (p.Trp13Ter) rs1191512072 0.00001
NM_001378609.3(OTOGL):c.4341del (p.Met1447fs) rs766971906 0.00001
NM_003672.4(CDC14A):c.520C>T (p.Arg174Ter) rs765155697 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004100.5(EYA4):c.1739-1G>A rs797045088 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_005422.4(TECTA):c.2719C>T (p.Arg907Ter) rs764424917 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.6155G>A (p.Cys2052Tyr) rs727503467 0.00001
NM_005422.4(TECTA):c.6163-2A>T rs876657661 0.00001
NM_015340.4(LARS2):c.1520C>G (p.Pro507Arg) rs1553635112 0.00001
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg) rs753790346 0.00001
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785 0.00001
NM_016239.4(MYO15A):c.6610C>T (p.Arg2204Cys) rs727503312 0.00001
NM_017433.5(MYO3A):c.3274+1G>T rs201538580 0.00001
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) rs727504455 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) rs397517342 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_032119.4(ADGRV1):c.12101T>G (p.Phe4034Cys) rs876657647 0.00001
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924 0.00001
NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) rs727503062 0.00001
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443 0.00001
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) rs397517925 0.00001
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265 0.00001
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NC_000006.12:g.(?_133506020)_(133528840_?)del
NC_000007.14:g.107672230_107672231delinsA rs111033400
NC_000010.11:g.71645936_71645956del rs397517305
NC_000012.11:g.80632665_80732812del
NC_000015.10:g.43611494_43611509del rs1555447538
NC_012920.1(MT-CYB):m.1027A>G rs727504555
NC_012920.1(MT-ND1):m.1494C>T rs267606619
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
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.Ser612_Gln613insHisSer) rs397516290
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.1935+4A>T
NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs) rs111033510
NM_000260.4(MYO7A):c.2094+1G>C rs111033404
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.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.314T>G (p.Val105Gly) rs876657654
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.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.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.587T>C (p.Leu196Pro) rs397516324
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
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_000441.1(SLC26A4):c.(?_305)_(415_?)dup (p.(?))
NM_000441.2(SLC26A4):c.1149+1G>T
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.1548_1549insC (p.Ser517fs) rs111033317
NM_000441.2(SLC26A4):c.1707+6T>C rs727505230
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
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_001038603.3(MARVELD2):c.188C>A (p.Ser63Ter)
NM_001039141.3(TRIOBP):c.1195C>T (p.Arg399Ter) rs750078356
NM_001039141.3(TRIOBP):c.138_153del (p.Glu47fs)
NM_001039141.3(TRIOBP):c.390dup (p.Gly131fs)
NM_001039876.1(SYNE4):c.(?_1)_(1215_?)del
NM_001128228.3(TPRN):c.107del (p.Gly36fs) rs1011757302
NM_001128228.3(TPRN):c.25del (p.Ser9fs)
NM_001128228.3(TPRN):c.440_444del (p.Arg147fs)
NM_001128228.3(TPRN):c.505_542del (p.Pro169fs)
NM_001195263.2(PDZD7):c.604del (p.Ser202fs)
NM_001256317.3(TMPRSS3):c.1303C>T (p.Arg435Cys) rs565348874
NM_001277269.1(OTOG):c.(?_3914)-61_(6474_?)+67del
NM_001292063.2(OTOG):c.2119dup (p.Glu707fs) rs778222536
NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter) rs876657656
NM_001292063.2(OTOG):c.3187C>T (p.Arg1063Ter)
NM_001292063.2(OTOG):c.3718A>T (p.Lys1240Ter)
NM_001292063.2(OTOG):c.457_466del (p.Gly153fs)
NM_001292063.2(OTOG):c.4768del (p.Arg1590fs)
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
NM_001292063.2(OTOG):c.5616dup (p.Ala1873fs)
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) rs34547529
NM_001292063.2(OTOG):c.7072+1G>A
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs) rs1157646266
NM_001292063.2(OTOG):c.7585+2T>C rs1401870617
NM_001292063.2(OTOG):c.7633C>T (p.Gln2545Ter)
NM_001378609.3(OTOGL):c.119+1G>A
NM_001378609.3(OTOGL):c.1567C>T (p.Gln523Ter)
NM_001378609.3(OTOGL):c.2365_2372del (p.Glu788_Asp789insTer)
NM_001378609.3(OTOGL):c.3168G>A (p.Trp1056Ter) rs2137737853
NM_001378609.3(OTOGL):c.3521_3524del (p.Glu1174fs)
NM_001378609.3(OTOGL):c.4199+1G>A
NM_001378609.3(OTOGL):c.4741C>T (p.Gln1581Ter)
NM_001378609.3(OTOGL):c.5020_5024del (p.Asn1674fs) rs1592726662
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs) rs876657658
NM_001379180.1(ESRRB):c.1011dup (p.Leu338fs) rs1555344820
NM_001379180.1(ESRRB):c.1088_1089del (p.Val363fs) rs876657643
NM_001379180.1(ESRRB):c.1224G>A (p.Trp408Ter) rs727503041
NM_001379180.1(ESRRB):c.1268_1272del (p.Thr423fs) rs727504577
NM_001379180.1(ESRRB):c.808C>T (p.Arg270Ter) rs202023138
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.2244+2T>G rs1555681351
NM_001384474.1(LOXHD1):c.4045G>T (p.Glu1349Ter) rs2144321916
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_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.176G>A (p.Gly59Asp) rs104894404
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
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.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_004568.6(SERPINB6):c.679G>T (p.Glu227Ter) rs1201327476
NM_004700.4(KCNQ4):c.1667_1671dup (p.Val558fs) rs1553168601
NM_004999.4(MYO6):c.1383G>C (p.Glu461Asp) rs727504548
NM_004999.4(MYO6):c.2111dup (p.Tyr705fs) rs397517045
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_005422.4(TECTA):c.1060C>T (p.Gln354Ter)
NM_005422.4(TECTA):c.5235del (p.Ile1746fs) rs1229070290
NM_005422.4(TECTA):c.5662A>G (p.Arg1888Gly) rs1591464171
NM_005422.4(TECTA):c.5692T>C (p.Cys1898Arg) rs1591464207
NM_005422.4(TECTA):c.5719del (p.Ser1907fs)
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_013296.5(GPSM2):c.459_460del (p.Ala154fs) rs727505300
NM_015340.3(LARS2):c.(?_2533)-70_*(70_?)del
NM_016239.4(MYO15A):c.2570del (p.Pro857fs)
NM_016239.4(MYO15A):c.2704del (p.Ala902fs)
NM_016239.4(MYO15A):c.3006del (p.Lys1003fs) rs1162296750
NM_016239.4(MYO15A):c.3795C>A (p.Tyr1265Ter) rs1597768378
NM_016239.4(MYO15A):c.5891_5900del (p.Ser1964fs)
NM_016239.4(MYO15A):c.6479del (p.Pro2160fs)
NM_016239.4(MYO15A):c.6491dup (p.Asn2165fs)
NM_016239.4(MYO15A):c.6788G>A (p.Gly2263Asp) rs397517285
NM_016239.4(MYO15A):c.750_753del (p.Leu251fs)
NM_016239.4(MYO15A):c.9942C>A (p.Tyr3314Ter)
NM_016239.4(MYO15A):c.997G>T (p.Glu333Ter)
NM_017433.5(MYO3A):c.2263-2A>C rs1554833178
NM_017433.5(MYO3A):c.4335dup (p.Leu1446fs)
NM_017433.5(MYO3A):c.4545+1G>C rs876657652
NM_022124.6(CDH23):c.2701G>A (p.Glu901Lys) rs876657636
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.6412del (p.Glu2138fs) rs111033473
NM_022124.6(CDH23):c.7921G>C (p.Asp2641His) rs397517354
NM_031475.3(ESPN):c.244dup (p.His82fs)
NM_031475.3(ESPN):c.677del (p.Val226fs)
NM_032119.4(ADGRV1):c.10229_10231dup (p.Val3410dup) rs397517418
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.85del (p.Ala29fs)
NM_138691.3(TMC1):c.741+1G>A rs1588067173
NM_144672.4(OTOA):c.806C>A (p.Ser269Ter)
NM_145309.6(LRRC51):c.83-1_83del
NM_147196.3(TMIE):c.211+3G>C rs397517865
NM_147196.3(TMIE):c.251G>T (p.Arg84Leu) rs397517866
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.4702-2A>C
NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala) rs1336307815
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) rs777297575
NM_182548.4(LHFPL5):c.89dup (p.Thr31fs) rs756030149
NM_194248.3(OTOF):c.1045+2T>G rs111033341
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) rs200864338
NM_194248.3(OTOF):c.2370_2371insA (p.Asp791fs) rs111033370
NM_194248.3(OTOF):c.4228-1G>A rs111033342
NM_194248.3(OTOF):c.5193-1G>A rs111033373
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.5925del (p.Leu1976fs) rs111033384
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter) rs111033447
NM_194248.3(OTOF):c.839del (p.Gly280fs) rs1665944825
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359
NM_206933.2(USH2A):c.9335_9371+8063del
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
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.13010C>T (p.Thr4337Met) rs527236137
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.3158-6A>G rs397518010
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723

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