ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 3

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ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His) rs117612144 0.00347
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
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_016239.4(MYO15A):c.5964+3G>C rs530975087 0.00009
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs) rs766187994 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016239.4(MYO15A):c.8714-1G>A rs377015931 0.00006
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) rs1270302810 0.00004
NM_016239.4(MYO15A):c.5977C>T (p.Arg1993Trp) rs759663463 0.00004
NM_016239.4(MYO15A):c.1223C>T (p.Ala408Val) rs191710555 0.00003
NM_016239.4(MYO15A):c.3756+1G>T rs748108031 0.00003
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) rs878854411 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_016239.4(MYO15A):c.9572G>A (p.Arg3191His) rs373520843 0.00002
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter) rs1233145763 0.00001
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) rs781546107 0.00001
NM_016239.4(MYO15A):c.3866+1G>A rs374742590 0.00001
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg) rs753790346 0.00001
NM_016239.4(MYO15A):c.4322G>T (p.Gly1441Val) rs772995303 0.00001
NM_016239.4(MYO15A):c.5141A>T (p.Lys1714Met) rs529797013 0.00001
NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter) rs765468034 0.00001
NM_016239.4(MYO15A):c.6956+9C>G rs1482709090 0.00001
NM_016239.4(MYO15A):c.7396-1G>A rs760461823 0.00001
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs) rs1221876133 0.00001
NM_016239.4(MYO15A):c.8340+5G>A rs752773977 0.00001
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=) rs878853228 0.00001
NM_016239.4(MYO15A):c.8375T>C (p.Val2792Ala) rs983107737 0.00001
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter) rs768257384 0.00001
NM_016239.4(MYO15A):c.8968-1G>T rs746051220 0.00001
NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter) rs1330631412 0.00001
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) rs759523751 0.00001
NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.3(MYO15A):c.[373_374delCG];[8183G>A]
NM_016239.4(MYO15A):c.10177C>T (p.Gln3393Ter) rs2142429182
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_016239.4(MYO15A):c.10252TTC[2] (p.Phe3420del) rs1174503300
NM_016239.4(MYO15A):c.10350+2T>G rs760148486
NM_016239.4(MYO15A):c.10419_10423del (p.Ser3474fs) rs2142436425
NM_016239.4(MYO15A):c.10425C>A (p.Tyr3475Ter)
NM_016239.4(MYO15A):c.10538_10544del (p.Leu3513fs) rs2142451116
NM_016239.4(MYO15A):c.10572dup (p.Ser3525fs) rs1057519607
NM_016239.4(MYO15A):c.10585del (p.Leu3529fs) rs2047052213
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs) rs1567620939
NM_016239.4(MYO15A):c.1178_1179del (p.Tyr393fs)
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) rs772536599
NM_016239.4(MYO15A):c.1201del (p.Tyr401fs) rs2142244823
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter) rs1597752877
NM_016239.4(MYO15A):c.1657del (p.Arg553fs)
NM_016239.4(MYO15A):c.1661del (p.Gly554fs) rs1245338270
NM_016239.4(MYO15A):c.201_202del (p.Gln68fs) rs2142236482
NM_016239.4(MYO15A):c.212del (p.Lys71fs) rs2142236554
NM_016239.4(MYO15A):c.2266_2272dup (p.Pro758fs) rs2142253567
NM_016239.4(MYO15A):c.2958del (p.Arg987fs) rs2142258855
NM_016239.4(MYO15A):c.3123del (p.Lys1042fs) rs769230097
NM_016239.4(MYO15A):c.3141del (p.Lys1048fs) rs1317243760
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer) rs794729637
NM_016239.4(MYO15A):c.3313G>T (p.Glu1105Ter) rs121908971
NM_016239.4(MYO15A):c.3336del (p.Arg1113fs) rs769884586
NM_016239.4(MYO15A):c.343del (p.Arg115fs)
NM_016239.4(MYO15A):c.3474G>A (p.Trp1158Ter)
NM_016239.4(MYO15A):c.3685C>T (p.Gln1229Ter) rs121908968
NM_016239.4(MYO15A):c.3693-2A>G rs2142274411
NM_016239.4(MYO15A):c.3700C>T (p.Gln1234Ter) rs2142274433
NM_016239.4(MYO15A):c.373_374del (p.Arg125fs) rs878853239
NM_016239.4(MYO15A):c.3829C>T (p.Gln1277Ter) rs2142280018
NM_016239.4(MYO15A):c.3944G>A (p.Gly1315Glu) rs878854410
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys) rs1060499798
NM_016239.4(MYO15A):c.439G>T (p.Glu147Ter)
NM_016239.4(MYO15A):c.4441T>C (p.Ser1481Pro) rs758896141
NM_016239.4(MYO15A):c.4519C>T (p.Arg1507Ter) rs549138385
NM_016239.4(MYO15A):c.4522G>T (p.Glu1508Ter) rs1567638693
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.4571dup (p.Lys1525fs) rs2046256329
NM_016239.4(MYO15A):c.4596+1G>A
NM_016239.4(MYO15A):c.4596+2_4596+3del rs2142315894
NM_016239.4(MYO15A):c.4609G>T (p.Glu1537Ter) rs1555543432
NM_016239.4(MYO15A):c.4660G>A (p.Ala1554Thr)
NM_016239.4(MYO15A):c.477G>A (p.Trp159Ter) rs1567618790
NM_016239.4(MYO15A):c.4780G>C (p.Asp1594His) rs878854412
NM_016239.4(MYO15A):c.4879G>T (p.Glu1627Ter) rs1597787868
NM_016239.4(MYO15A):c.488C>A (p.Ser163Ter) rs773729617
NM_016239.4(MYO15A):c.5001del (p.Gln1669fs) rs2142326062
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter) rs1567641234
NM_016239.4(MYO15A):c.5134-1G>A rs2142330705
NM_016239.4(MYO15A):c.5193_5194insACAG (p.Val1732fs) rs2142330998
NM_016239.4(MYO15A):c.5335del (p.Leu1779fs) rs878854413
NM_016239.4(MYO15A):c.5492G>T (p.Gly1831Val) rs121908972
NM_016239.4(MYO15A):c.5531+1G>A rs727503309
NM_016239.4(MYO15A):c.5673C>G (p.Tyr1891Ter) rs2046392476
NM_016239.4(MYO15A):c.5722_5725del (p.Thr1908fs) rs2142341338
NM_016239.4(MYO15A):c.5809C>G (p.Arg1937Gly) rs749465098
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) rs749465098
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter) rs2142343642
NM_016239.4(MYO15A):c.5964+3G>A rs530975087
NM_016239.4(MYO15A):c.596C>G (p.Ser199Ter) rs2142240125
NM_016239.4(MYO15A):c.605C>A (p.Pro202His) rs1229200252
NM_016239.4(MYO15A):c.6146C>A (p.Pro2049His) rs878854414
NM_016239.4(MYO15A):c.6177+1G>T rs751142446
NM_016239.4(MYO15A):c.6178-2A>G rs878854415
NM_016239.4(MYO15A):c.6194del (p.Met2065fs)
NM_016239.4(MYO15A):c.625G>T (p.Glu209Ter) rs571594379
NM_016239.4(MYO15A):c.6331A>T (p.Asn2111Tyr) rs121908966
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe) rs121908965
NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met) rs377385081
NM_016239.4(MYO15A):c.6503T>G (p.Leu2168Arg) rs1567648703
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_016239.4(MYO15A):c.6599C>A (p.Ser2200Ter)
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter) rs1567649945
NM_016239.4(MYO15A):c.6708C>A (p.Cys2236Ter)
NM_016239.4(MYO15A):c.6898A>T (p.Lys2300Ter) rs2142363296
NM_016239.4(MYO15A):c.6944del (p.Gly2315fs) rs1057519604
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) rs780170125
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr) rs878853227
NM_016239.4(MYO15A):c.742C>G (p.Arg248Gly) rs878854409
NM_016239.4(MYO15A):c.7523del (p.Pro2508fs) rs2142369409
NM_016239.4(MYO15A):c.7550C>G (p.Thr2517Ser) rs201119351
NM_016239.4(MYO15A):c.7654+1G>A rs1338603862
NM_016239.4(MYO15A):c.7698_7699del (p.Glu2567fs) rs2142370409
NM_016239.4(MYO15A):c.7745_8224+177delinsCTCCCCGGAACGGCTGCTGGTAC
NM_016239.4(MYO15A):c.7801A>T (p.Lys2601Ter) rs121908967
NM_016239.4(MYO15A):c.8130dup (p.Asp2711Ter) rs2142377997
NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His) rs121908969
NM_016239.4(MYO15A):c.8152del (p.Leu2718fs) rs2142379446
NM_016239.4(MYO15A):c.8324G>T (p.Arg2775Leu) rs773476384
NM_016239.4(MYO15A):c.8362C>T (p.Gln2788Ter) rs2142381989
NM_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn) rs878853238
NM_016239.4(MYO15A):c.8524G>T (p.Glu2842Ter) rs766250454
NM_016239.4(MYO15A):c.8583del (p.Phe2861fs) rs2142384617
NM_016239.4(MYO15A):c.8713+3_8713+6del rs2142386632
NM_016239.4(MYO15A):c.8730C>A (p.Cys2910Ter) rs776201118
NM_016239.4(MYO15A):c.8746GTG[1] (p.Val2917del) rs2142387013
NM_016239.4(MYO15A):c.8828dup (p.Ser2945fs) rs751628774
NM_016239.4(MYO15A):c.8831del (p.Pro2944fs)
NM_016239.4(MYO15A):c.8897_8900dup (p.Ala2968fs) rs2046704290
NM_016239.4(MYO15A):c.8968-1G>C rs746051220
NM_016239.4(MYO15A):c.8976dup (p.Val2993fs) rs2142391112
NM_016239.4(MYO15A):c.900del (p.Pro301fs) rs2142242418
NM_016239.4(MYO15A):c.9083+6T>A rs1555547112
NM_016239.4(MYO15A):c.9229+2T>C rs1057519606
NM_016239.4(MYO15A):c.9358C>T (p.Gln3120Ter) rs774255124
NM_016239.4(MYO15A):c.9408G>C (p.Trp3136Cys)
NM_016239.4(MYO15A):c.9518-2A>G
NM_016239.4(MYO15A):c.9534C>A (p.Cys3178Ter) rs2142402323
NM_016239.4(MYO15A):c.9690+1G>A rs2142404134
NM_016239.4(MYO15A):c.9787+1G>A rs769937488
NM_016239.4(MYO15A):c.9941del (p.Tyr3314fs) rs2142413310
NM_016239.4(MYO15A):c.9942_9943delinsTGTGTG (p.Asn3315delinsValTer) rs2142413318
NM_016239.4(MYO15A):c.9958_9961del (p.Asp3320fs) rs1567664131
NM_016239.4(MYO15A):c.[1185dup];[4879G>T]
NM_016239.4(MYO15A):c.[6580C>T];[7124_7127del]

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