ClinVar Miner

List of variants in gene MYO15A reported as likely pathogenic for Autosomal recessive nonsyndromic hearing loss 3

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Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031 0.00026
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200 0.00024
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.6764+2T>A rs763975867 0.00009
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser) rs371730430 0.00006
NM_016239.4(MYO15A):c.8714-1G>A rs377015931 0.00006
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_016239.4(MYO15A):c.8767C>T (p.Arg2923Ter) rs373462792 0.00005
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) rs1270302810 0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu) rs886052676 0.00004
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998 0.00004
NM_016239.4(MYO15A):c.1223C>T (p.Ala408Val) rs191710555 0.00003
NM_016239.4(MYO15A):c.1651G>A (p.Ala551Thr) rs747175448 0.00003
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter) rs771720649 0.00003
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_016239.4(MYO15A):c.7788-10A>G rs369105885 0.00002
NM_016239.4(MYO15A):c.10082+1G>A rs772568482 0.00001
NM_016239.4(MYO15A):c.10491+2T>C rs1390498839 0.00001
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met) rs773648511 0.00001
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter) rs763075073 0.00001
NM_016239.4(MYO15A):c.3866C>T (p.Pro1289Leu) rs192483691 0.00001
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg) rs753790346 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr) rs576399072 0.00001
NM_016239.4(MYO15A):c.5810G>A (p.Arg1937His) rs374183624 0.00001
NM_016239.4(MYO15A):c.6397A>G (p.Asn2133Asp) rs769491829 0.00001
NM_016239.4(MYO15A):c.6436C>T (p.Arg2146Trp) rs375805896 0.00001
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys) rs371352836 0.00001
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser) rs375459945 0.00001
NM_016239.4(MYO15A):c.6841G>A (p.Asp2281Asn) rs371717411 0.00001
NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His) rs773476384 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.9765_9766insGG (p.Ile3256fs) rs757070287 0.00001
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.4(MYO15A):c.10129dup (p.Ala3377fs) rs2142428987
NM_016239.4(MYO15A):c.10143G>A (p.Trp3381Ter)
NM_016239.4(MYO15A):c.10178dup (p.Ala3394fs)
NM_016239.4(MYO15A):c.10192del (p.His3398fs)
NM_016239.4(MYO15A):c.10202G>T (p.Arg3401Leu)
NM_016239.4(MYO15A):c.10209delinsCCAGGCCCGTGCAGCTC (p.Gln3403fs) rs1057519601
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_016239.4(MYO15A):c.10294_10308del (p.Pro3432_Ala3436del) rs2142430892
NM_016239.4(MYO15A):c.10351-15T>G
NM_016239.4(MYO15A):c.10351-1G>C
NM_016239.4(MYO15A):c.10360_10362del (p.Val3454del) rs2142436001
NM_016239.4(MYO15A):c.1101del (p.Tyr368fs) rs2142243946
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1185del (p.Glu396fs)
NM_016239.4(MYO15A):c.1205_1224del (p.Pro402fs) rs2142244867
NM_016239.4(MYO15A):c.1318del (p.Asp440fs)
NM_016239.4(MYO15A):c.1374_1384del (p.Phe458fs)
NM_016239.4(MYO15A):c.1450C>T (p.Gln484Ter)
NM_016239.4(MYO15A):c.1691_1692dup (p.Val565fs)
NM_016239.4(MYO15A):c.1746del (p.Lys583fs)
NM_016239.4(MYO15A):c.1857dup (p.Glu620fs)
NM_016239.4(MYO15A):c.1858G>T (p.Glu620Ter) rs1445431722
NM_016239.4(MYO15A):c.1870del (p.Thr624fs)
NM_016239.4(MYO15A):c.1971G>A (p.Trp657Ter) rs1567623176
NM_016239.4(MYO15A):c.2061_2062insT (p.Pro688fs)
NM_016239.4(MYO15A):c.2085del (p.Ser696fs)
NM_016239.4(MYO15A):c.2174del (p.Pro725fs)
NM_016239.4(MYO15A):c.2278dup (p.Ala760fs)
NM_016239.4(MYO15A):c.2384dup (p.Ser796fs) rs1567624190
NM_016239.4(MYO15A):c.2440_2444del (p.Ala814fs)
NM_016239.4(MYO15A):c.2464G>T (p.Glu822Ter)
NM_016239.4(MYO15A):c.2516del (p.Pro839fs)
NM_016239.4(MYO15A):c.2722G>T (p.Glu908Ter)
NM_016239.4(MYO15A):c.2873del (p.Pro958fs) rs1217492313
NM_016239.4(MYO15A):c.2889_2890del (p.Phe964fs)
NM_016239.4(MYO15A):c.2892del (p.Leu965fs)
NM_016239.4(MYO15A):c.28_31del (p.Lys10fs)
NM_016239.4(MYO15A):c.3130_3147del (p.Ile1044_Asp1049del)
NM_016239.4(MYO15A):c.3233G>A (p.Trp1078Ter) rs866595552
NM_016239.4(MYO15A):c.3305dup (p.Gly1104_Glu1105insTer)
NM_016239.4(MYO15A):c.346_376del (p.Gly116fs) rs1597747826
NM_016239.4(MYO15A):c.3473G>A (p.Trp1158Ter)
NM_016239.4(MYO15A):c.349_364del (p.Tyr117fs)
NM_016239.4(MYO15A):c.3576G>A (p.Trp1192Ter)
NM_016239.4(MYO15A):c.3610-2A>G
NM_016239.4(MYO15A):c.3692+5G>C
NM_016239.4(MYO15A):c.3725T>C (p.Leu1242Pro)
NM_016239.4(MYO15A):c.3742C>T (p.Arg1248Trp)
NM_016239.4(MYO15A):c.3755A>G (p.Tyr1252Cys)
NM_016239.4(MYO15A):c.3757A>G (p.Thr1253Ala)
NM_016239.4(MYO15A):c.3763A>T (p.Ile1255Phe)
NM_016239.4(MYO15A):c.3832C>T (p.Gln1278Ter)
NM_016239.4(MYO15A):c.3866+1G>T
NM_016239.4(MYO15A):c.3904del (p.Met1302fs) rs2142282007
NM_016239.4(MYO15A):c.3926A>T (p.Gln1309Leu) rs777366131
NM_016239.4(MYO15A):c.3932T>C (p.Ile1311Thr) rs1057519603
NM_016239.4(MYO15A):c.4030C>T (p.Gln1344Ter) rs2142283941
NM_016239.4(MYO15A):c.4070T>C (p.Phe1357Ser)
NM_016239.4(MYO15A):c.4109G>A (p.Arg1370His) rs771676248
NM_016239.4(MYO15A):c.4114G>C (p.Gly1372Arg)
NM_016239.4(MYO15A):c.4194G>C (p.Arg1398Ser)
NM_016239.4(MYO15A):c.4207-1G>T
NM_016239.4(MYO15A):c.4272del (p.Arg1424fs)
NM_016239.4(MYO15A):c.4321G>T (p.Gly1441Cys)
NM_016239.4(MYO15A):c.4351G>C (p.Asp1451His)
NM_016239.4(MYO15A):c.4385del (p.Met1462fs)
NM_016239.4(MYO15A):c.4454T>C (p.Leu1485Pro) rs751973078
NM_016239.4(MYO15A):c.4482+2T>C rs2142307505
NM_016239.4(MYO15A):c.4538C>A (p.Ala1513Glu)
NM_016239.4(MYO15A):c.4538C>T (p.Ala1513Val) rs2142315607
NM_016239.4(MYO15A):c.4661C>A (p.Ala1554Asp)
NM_016239.4(MYO15A):c.4671G>C (p.Lys1557Asn)
NM_016239.4(MYO15A):c.4875G>C (p.Gln1625His)
NM_016239.4(MYO15A):c.4876-2A>T
NM_016239.4(MYO15A):c.4945C>T (p.Leu1649Phe) rs1257912388
NM_016239.4(MYO15A):c.4969dup (p.Ile1657fs)
NM_016239.4(MYO15A):c.4970T>A (p.Ile1657Asn)
NM_016239.4(MYO15A):c.5023T>C (p.Phe1675Leu)
NM_016239.4(MYO15A):c.5036G>A (p.Cys1679Tyr) rs2142328201
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs) rs1555543836
NM_016239.4(MYO15A):c.5073del (p.Lys1691fs)
NM_016239.4(MYO15A):c.5306C>T (p.Thr1769Ile)
NM_016239.4(MYO15A):c.5309_5310del (p.Val1770fs)
NM_016239.4(MYO15A):c.5361-1G>C
NM_016239.4(MYO15A):c.5362T>G (p.Cys1788Gly) rs2142335605
NM_016239.4(MYO15A):c.5461del (p.Val1821fs) rs764867438
NM_016239.4(MYO15A):c.5504G>A (p.Arg1835His)
NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu) rs752816535
NM_016239.4(MYO15A):c.5531G>T (p.Arg1844Met)
NM_016239.4(MYO15A):c.5585G>C (p.Cys1862Ser)
NM_016239.4(MYO15A):c.5651T>C (p.Leu1884Pro)
NM_016239.4(MYO15A):c.5769del (p.Ser1924fs)
NM_016239.4(MYO15A):c.5797C>T (p.Gln1933Ter)
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter) rs2142343642
NM_016239.4(MYO15A):c.5859_5869del (p.Lys1954fs)
NM_016239.4(MYO15A):c.5886C>A (p.Tyr1962Ter)
NM_016239.4(MYO15A):c.5911-2A>C
NM_016239.4(MYO15A):c.5941G>T (p.Gly1981Trp) rs1240409145
NM_016239.4(MYO15A):c.5964+3G>A rs530975087
NM_016239.4(MYO15A):c.6011C>T (p.Pro2004Leu)
NM_016239.4(MYO15A):c.6045A>T (p.Ala2015=) rs2142347739
NM_016239.4(MYO15A):c.6177+1G>T rs751142446
NM_016239.4(MYO15A):c.6278T>C (p.Leu2093Pro)
NM_016239.4(MYO15A):c.6294C>G (p.Asp2098Glu)
NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg) rs2142355107
NM_016239.4(MYO15A):c.6457del (p.Ala2153fs)
NM_016239.4(MYO15A):c.6505del (p.Leu2169fs)
NM_016239.4(MYO15A):c.6509+1G>C
NM_016239.4(MYO15A):c.6510-1G>T rs2142360420
NM_016239.4(MYO15A):c.6551_6552del (p.Cys2184fs) rs2142360575
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His) rs2046512154
NM_016239.4(MYO15A):c.6611G>C (p.Arg2204Pro)
NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu)
NM_016239.4(MYO15A):c.6620C>T (p.Pro2207Leu) rs876657903
NM_016239.4(MYO15A):c.6692-1G>A
NM_016239.4(MYO15A):c.6697C>T (p.Gln2233Ter)
NM_016239.4(MYO15A):c.6716A>C (p.His2239Pro) rs760577812
NM_016239.4(MYO15A):c.6764+1G>T rs2046521710
NM_016239.4(MYO15A):c.6850_6858del (p.Leu2284_Leu2286del)
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs) rs2142363190
NM_016239.4(MYO15A):c.6956+6T>C
NM_016239.4(MYO15A):c.6957-1G>C
NM_016239.4(MYO15A):c.699_700del (p.Glu234fs)
NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter) rs1330406146
NM_016239.4(MYO15A):c.707A>G (p.Tyr236Cys) rs2045862543
NM_016239.4(MYO15A):c.7235_7241del (p.Ile2412fs)
NM_016239.4(MYO15A):c.7313dup (p.Glu2439fs)
NM_016239.4(MYO15A):c.7327+5G>C
NM_016239.4(MYO15A):c.7405_7445del (p.Met2469fs)
NM_016239.4(MYO15A):c.7414C>T (p.Gln2472Ter)
NM_016239.4(MYO15A):c.7441_7442del (p.Leu2481fs)
NM_016239.4(MYO15A):c.7473+2T>G rs1475492059
NM_016239.4(MYO15A):c.7711_7712dup (p.Gln2571fs) rs1267868260
NM_016239.4(MYO15A):c.7771del (p.Arg2591fs) rs2142370684
NM_016239.4(MYO15A):c.7854del (p.Gln2620fs)
NM_016239.4(MYO15A):c.7894G>T (p.Val2632Leu)
NM_016239.4(MYO15A):c.7963del (p.Ser2655fs)
NM_016239.4(MYO15A):c.7966+1G>A
NM_016239.4(MYO15A):c.7967-2A>C
NM_016239.4(MYO15A):c.8008C>T (p.Gln2670Ter)
NM_016239.4(MYO15A):c.8088+1G>A rs773461233
NM_016239.4(MYO15A):c.8147A>G (p.Gln2716Arg) rs756607995
NM_016239.4(MYO15A):c.8158G>A (p.Asp2720Asn)
NM_016239.4(MYO15A):c.8162C>A (p.Thr2721Lys) rs1288328459
NM_016239.4(MYO15A):c.8245_8246del (p.Gln2749fs) rs2142381103
NM_016239.4(MYO15A):c.8285_8308del (p.Val2762_Trp2769del) rs2142381306
NM_016239.4(MYO15A):c.8309_8311del (p.Glu2770del) rs1555546699
NM_016239.4(MYO15A):c.8315A>G (p.Tyr2772Cys)
NM_016239.4(MYO15A):c.8457C>G (p.Tyr2819Ter)
NM_016239.4(MYO15A):c.8458A>C (p.Ser2820Arg) rs2142382400
NM_016239.4(MYO15A):c.8459+1G>A
NM_016239.4(MYO15A):c.8557C>T (p.Gln2853Ter)
NM_016239.4(MYO15A):c.8561T>G (p.Val2854Gly)
NM_016239.4(MYO15A):c.8601+2T>G
NM_016239.4(MYO15A):c.8662_8696dup (p.Glu2900fs)
NM_016239.4(MYO15A):c.8680A>G (p.Ile2894Val)
NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr) rs2142386490
NM_016239.4(MYO15A):c.8713+1G>A
NM_016239.4(MYO15A):c.8788G>T (p.Gly2930Cys)
NM_016239.4(MYO15A):c.8789-2A>G
NM_016239.4(MYO15A):c.8791del (p.Trp2931fs) rs2142388348
NM_016239.4(MYO15A):c.8828T>C (p.Phe2943Ser) rs2142388547
NM_016239.4(MYO15A):c.8828dup (p.Ser2945fs) rs751628774
NM_016239.4(MYO15A):c.8910del (p.Val2971fs)
NM_016239.4(MYO15A):c.8944C>T (p.Gln2982Ter) rs774312110
NM_016239.4(MYO15A):c.900del (p.Pro301fs) rs2142242418
NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter) rs1567658710
NM_016239.4(MYO15A):c.9084-1G>T rs1567658906
NM_016239.4(MYO15A):c.9175del (p.Leu3059fs)
NM_016239.4(MYO15A):c.9196del (p.Ser3066fs)
NM_016239.4(MYO15A):c.9229G>A (p.Ala3077Thr)
NM_016239.4(MYO15A):c.9229G>C (p.Ala3077Pro)
NM_016239.4(MYO15A):c.9230-1G>C
NM_016239.4(MYO15A):c.9309C>A (p.Cys3103Ter)
NM_016239.4(MYO15A):c.9341dup (p.Tyr3114Ter)
NM_016239.4(MYO15A):c.9342C>A (p.Tyr3114Ter)
NM_016239.4(MYO15A):c.9371dup (p.Asn3124fs) rs2046752611
NM_016239.4(MYO15A):c.9443G>A (p.Cys3148Tyr)
NM_016239.4(MYO15A):c.9569del (p.Gly3190fs)
NM_016239.4(MYO15A):c.9690+2T>A
NM_016239.4(MYO15A):c.96del (p.Thr33fs)
NM_016239.4(MYO15A):c.9774del (p.Val3259fs)
NM_016239.4(MYO15A):c.9787G>A (p.Gly3263Ser)
NM_016239.4(MYO15A):c.9788-1G>T
NM_016239.4(MYO15A):c.9788-2A>C
NM_016239.4(MYO15A):c.9808dup (p.Ser3270fs)
NM_016239.4(MYO15A):c.[5192T>C;823G>C]

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