ClinVar Miner

List of variants in gene MYO15A reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 261
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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.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.6764+2T>A rs763975867 0.00009
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
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.5925G>A (p.Trp1975Ter) rs375290498 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.5977C>T (p.Arg1993Trp) rs759663463 0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter) rs771720649 0.00003
NM_016239.4(MYO15A):c.3756+1G>T rs748108031 0.00003
NM_016239.4(MYO15A):c.2311del (p.Ser771fs) rs754865266 0.00002
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.9572G>A (p.Arg3191His) rs373520843 0.00002
NM_016239.4(MYO15A):c.10018C>T (p.Gln3340Ter) rs1209867958 0.00001
NM_016239.4(MYO15A):c.10082+1G>A rs772568482 0.00001
NM_016239.4(MYO15A):c.10263C>G (p.Ile3421Met) rs748246442 0.00001
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter) rs1233145763 0.00001
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter) rs763075073 0.00001
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) rs781546107 0.00001
NM_016239.4(MYO15A):c.3756+1G>A rs748108031 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.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_016239.4(MYO15A):c.4597-2A>G rs777112605 0.00001
NM_016239.4(MYO15A):c.4602_4603del (p.Met1535fs) rs1287957722 0.00001
NM_016239.4(MYO15A):c.5810G>A (p.Arg1937His) rs374183624 0.00001
NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter) rs765468034 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.6956+1G>A rs1465311328 0.00001
NM_016239.4(MYO15A):c.6956+9C>G rs1482709090 0.00001
NM_016239.4(MYO15A):c.7006C>T (p.Gln2336Ter) rs1169954783 0.00001
NM_016239.4(MYO15A):c.7396-1G>A rs760461823 0.00001
NM_016239.4(MYO15A):c.7654+1G>C rs1338603862 0.00001
NM_016239.4(MYO15A):c.7893+1G>A rs727503316 0.00001
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs) rs1221876133 0.00001
NM_016239.4(MYO15A):c.8019del (p.His2674fs) rs1182951086 0.00001
NM_016239.4(MYO15A):c.8065del (p.Trp2689fs) rs755180092 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.8548C>T (p.Arg2850Ter) rs548514957 0.00001
NM_016239.4(MYO15A):c.8968-1G>T rs746051220 0.00001
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs) rs757070287 0.00001
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) rs759523751 0.00001
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.4(MYO15A):c.10089del (p.Val3364fs)
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.10324del (p.Leu3442fs) rs1251608221
NM_016239.4(MYO15A):c.10372del (p.Pro3457_Leu3458insTer)
NM_016239.4(MYO15A):c.10373del (p.Leu3458fs) rs1310479415
NM_016239.4(MYO15A):c.10419_10423del (p.Ser3474fs) rs2142436425
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1168G>T (p.Glu390Ter) rs762537238
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) rs772536599
NM_016239.4(MYO15A):c.121del (p.Arg41fs)
NM_016239.4(MYO15A):c.1238G>A (p.Trp413Ter)
NM_016239.4(MYO15A):c.1318del (p.Asp440fs)
NM_016239.4(MYO15A):c.1444C>T (p.Arg482Ter)
NM_016239.4(MYO15A):c.1451del (p.Gln484fs)
NM_016239.4(MYO15A):c.1504dup (p.Asp502fs)
NM_016239.4(MYO15A):c.1562del (p.Pro521fs)
NM_016239.4(MYO15A):c.1564del (p.Val522fs)
NM_016239.4(MYO15A):c.1578_1585del (p.Tyr527fs)
NM_016239.4(MYO15A):c.1603del (p.Leu535fs) rs762110822
NM_016239.4(MYO15A):c.1661dup (p.Leu555fs) rs1245338270
NM_016239.4(MYO15A):c.170C>A (p.Ser57Ter)
NM_016239.4(MYO15A):c.172del (p.Ala58fs)
NM_016239.4(MYO15A):c.1795_1798dup (p.Pro600fs) rs1597753664
NM_016239.4(MYO15A):c.202dup (p.Gln68fs)
NM_016239.4(MYO15A):c.2045del (p.Pro682fs)
NM_016239.4(MYO15A):c.2054C>A (p.Ser685Ter)
NM_016239.4(MYO15A):c.2054dup (p.Leu687fs)
NM_016239.4(MYO15A):c.2099_2105dup (p.Trp704fs)
NM_016239.4(MYO15A):c.2099_2108del (p.His700fs)
NM_016239.4(MYO15A):c.2117_2573del (p.Ala706fs)
NM_016239.4(MYO15A):c.2154G>A (p.Trp718Ter)
NM_016239.4(MYO15A):c.2205_2212del (p.Leu736fs)
NM_016239.4(MYO15A):c.2224C>T (p.Arg742Ter)
NM_016239.4(MYO15A):c.2258_2259del (p.Ala753fs) rs1555539322
NM_016239.4(MYO15A):c.232dup (p.Thr78fs)
NM_016239.4(MYO15A):c.2367C>A (p.Cys789Ter)
NM_016239.4(MYO15A):c.2368_2378del (p.Ser790fs) rs2142254226
NM_016239.4(MYO15A):c.2384del (p.Pro795fs)
NM_016239.4(MYO15A):c.2384dup (p.Ser796fs) rs1567624190
NM_016239.4(MYO15A):c.2446del (p.Arg816fs)
NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter) rs767378045
NM_016239.4(MYO15A):c.2461C>T (p.Gln821Ter)
NM_016239.4(MYO15A):c.2471del (p.Pro824fs)
NM_016239.4(MYO15A):c.2492_2520dup (p.Pro841fs)
NM_016239.4(MYO15A):c.2588dup (p.Asn863fs)
NM_016239.4(MYO15A):c.265C>T (p.Gln89Ter)
NM_016239.4(MYO15A):c.2781del (p.Ser928fs)
NM_016239.4(MYO15A):c.284dup (p.Lys96fs)
NM_016239.4(MYO15A):c.2851C>T (p.Arg951Ter)
NM_016239.4(MYO15A):c.2873dup (p.Val959fs)
NM_016239.4(MYO15A):c.289del (p.Arg97fs)
NM_016239.4(MYO15A):c.28_31del (p.Lys10fs)
NM_016239.4(MYO15A):c.2945del (p.Ala982fs)
NM_016239.4(MYO15A):c.2984_2991del (p.Glu995fs) rs864309607
NM_016239.4(MYO15A):c.3006del (p.Lys1003fs) rs1162296750
NM_016239.4(MYO15A):c.3026del (p.Pro1009fs) rs1555539827
NM_016239.4(MYO15A):c.3095del (p.Pro1032fs)
NM_016239.4(MYO15A):c.3140_3141del (p.Pro1047fs)
NM_016239.4(MYO15A):c.3240del (p.Trp1081fs)
NM_016239.4(MYO15A):c.3248del (p.Thr1083fs)
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer) rs794729637
NM_016239.4(MYO15A):c.3336del (p.Arg1113fs) rs769884586
NM_016239.4(MYO15A):c.3356del (p.Pro1119fs)
NM_016239.4(MYO15A):c.3364_3365insTTCT (p.Gln1122fs)
NM_016239.4(MYO15A):c.3418C>T (p.Gln1140Ter)
NM_016239.4(MYO15A):c.343_367dup (p.Arg123fs)
NM_016239.4(MYO15A):c.343dup (p.Arg115fs) rs764251996
NM_016239.4(MYO15A):c.3492T>A (p.Tyr1164Ter)
NM_016239.4(MYO15A):c.349_364del (p.Tyr117fs)
NM_016239.4(MYO15A):c.350_363del (p.Tyr117fs) rs1366586397
NM_016239.4(MYO15A):c.3576G>A (p.Trp1192Ter)
NM_016239.4(MYO15A):c.370_371del (p.Ala124fs)
NM_016239.4(MYO15A):c.3742C>T (p.Arg1248Trp)
NM_016239.4(MYO15A):c.3750del (p.Ile1251fs)
NM_016239.4(MYO15A):c.3761_3764dup (p.Gly1256fs)
NM_016239.4(MYO15A):c.3866+1G>T
NM_016239.4(MYO15A):c.4009C>T (p.Gln1337Ter)
NM_016239.4(MYO15A):c.4032+1G>A rs1064795282
NM_016239.4(MYO15A):c.4049del (p.Ala1350fs)
NM_016239.4(MYO15A):c.4057del (p.Leu1353fs) rs770991317
NM_016239.4(MYO15A):c.4173del (p.Gln1391fs)
NM_016239.4(MYO15A):c.4176C>A (p.Tyr1392Ter) rs1199192203
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys) rs1060499798
NM_016239.4(MYO15A):c.4264C>T (p.Gln1422Ter)
NM_016239.4(MYO15A):c.4320+1G>C
NM_016239.4(MYO15A):c.4423dup (p.Ile1475fs)
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.4549C>T (p.Gln1517Ter)
NM_016239.4(MYO15A):c.4571dup (p.Lys1525fs) rs2046256329
NM_016239.4(MYO15A):c.4581del (p.Thr1528fs) rs1597784648
NM_016239.4(MYO15A):c.4596+1G>A
NM_016239.4(MYO15A):c.4606C>T (p.Arg1536Ter) rs371352951
NM_016239.4(MYO15A):c.4655+1G>A
NM_016239.4(MYO15A):c.4821C>A (p.Tyr1607Ter) rs769768100
NM_016239.4(MYO15A):c.4864C>T (p.Gln1622Ter)
NM_016239.4(MYO15A):c.4875+1G>A
NM_016239.4(MYO15A):c.4875+2T>G
NM_016239.4(MYO15A):c.4906C>T (p.Gln1636Ter)
NM_016239.4(MYO15A):c.4930C>T (p.Gln1644Ter)
NM_016239.4(MYO15A):c.5057dup (p.Asn1686fs)
NM_016239.4(MYO15A):c.5067T>G (p.Tyr1689Ter)
NM_016239.4(MYO15A):c.5305_5306dup (p.Val1770fs) rs1555544187
NM_016239.4(MYO15A):c.535G>T (p.Glu179Ter)
NM_016239.4(MYO15A):c.5414_5415del (p.Gly1805fs)
NM_016239.4(MYO15A):c.5420_5421del (p.Leu1806_Phe1807insTer)
NM_016239.4(MYO15A):c.5443C>T (p.Gln1815Ter)
NM_016239.4(MYO15A):c.5461del (p.Val1821fs) rs764867438
NM_016239.4(MYO15A):c.5492del (p.Gly1831fs) rs747371923
NM_016239.4(MYO15A):c.5504G>A (p.Arg1835His)
NM_016239.4(MYO15A):c.5506del (p.Leu1836fs)
NM_016239.4(MYO15A):c.5515C>T (p.Gln1839Ter)
NM_016239.4(MYO15A):c.5673C>G (p.Tyr1891Ter) rs2046392476
NM_016239.4(MYO15A):c.5674C>T (p.Gln1892Ter)
NM_016239.4(MYO15A):c.5686_5687dup (p.Ser1896fs)
NM_016239.4(MYO15A):c.5730dup (p.Arg1911fs) rs2142341398
NM_016239.4(MYO15A):c.574dup (p.Arg192fs)
NM_016239.4(MYO15A):c.5761C>T (p.Arg1921Ter)
NM_016239.4(MYO15A):c.5838del (p.Gln1946fs)
NM_016239.4(MYO15A):c.5870_5876del (p.Ser1957fs)
NM_016239.4(MYO15A):c.5890del (p.Ser1964fs)
NM_016239.4(MYO15A):c.5964+3G>A rs530975087
NM_016239.4(MYO15A):c.5997dup (p.His2000fs)
NM_016239.4(MYO15A):c.6004del (p.Glu2002fs)
NM_016239.4(MYO15A):c.6084dup (p.Arg2029fs)
NM_016239.4(MYO15A):c.6093_6100del (p.Arg2032fs)
NM_016239.4(MYO15A):c.6094C>T (p.Arg2032Ter)
NM_016239.4(MYO15A):c.6177+2T>A
NM_016239.4(MYO15A):c.6178-1G>A rs886044338
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe) rs121908965
NM_016239.4(MYO15A):c.6353dup (p.Ala2119fs)
NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg) rs2142355107
NM_016239.4(MYO15A):c.6514del (p.Val2172fs)
NM_016239.4(MYO15A):c.6525_6532del (p.Tyr2175_Asn2178delinsTer)
NM_016239.4(MYO15A):c.6551_6552del (p.Cys2184fs) rs2142360575
NM_016239.4(MYO15A):c.6560_6561del (p.Arg2187fs)
NM_016239.4(MYO15A):c.6579_6582dup (p.Ala2195fs)
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His) rs2046512154
NM_016239.4(MYO15A):c.6628C>T (p.Gln2210Ter)
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter) rs1567649945
NM_016239.4(MYO15A):c.6754_6755del (p.Leu2252fs)
NM_016239.4(MYO15A):c.6791G>A (p.Trp2264Ter)
NM_016239.4(MYO15A):c.6892C>T (p.Arg2298Ter)
NM_016239.4(MYO15A):c.6959dup (p.Phe2321fs)
NM_016239.4(MYO15A):c.7006dup (p.Gln2336fs) rs397517286
NM_016239.4(MYO15A):c.700G>T (p.Glu234Ter)
NM_016239.4(MYO15A):c.7012C>T (p.Gln2338Ter) rs1567650971
NM_016239.4(MYO15A):c.7015del (p.Glu2339fs) rs2142364249
NM_016239.4(MYO15A):c.7061del (p.Asn2354fs)
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) rs780170125
NM_016239.4(MYO15A):c.7145_7146dup (p.Pro2383fs)
NM_016239.4(MYO15A):c.7184_7185del (p.Leu2394_Phe2395insTer) rs1415858976
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr) rs878853227
NM_016239.4(MYO15A):c.7226del (p.Pro2409fs) rs727503315
NM_016239.4(MYO15A):c.7256_7259dup (p.Gln2421fs)
NM_016239.4(MYO15A):c.7441_7442del (p.Leu2481fs)
NM_016239.4(MYO15A):c.749C>G (p.Ser250Ter)
NM_016239.4(MYO15A):c.755dup (p.His252fs)
NM_016239.4(MYO15A):c.7582A>T (p.Lys2528Ter)
NM_016239.4(MYO15A):c.7594_7595insGGGA (p.Leu2532fs)
NM_016239.4(MYO15A):c.7595_7598dup (p.Ile2534fs)
NM_016239.4(MYO15A):c.7623_7624insA (p.Leu2542fs)
NM_016239.4(MYO15A):c.762C>G (p.Tyr254Ter)
NM_016239.4(MYO15A):c.7967-1G>C
NM_016239.4(MYO15A):c.7967-2A>T rs2142376390
NM_016239.4(MYO15A):c.7976C>A (p.Ser2659Ter)
NM_016239.4(MYO15A):c.8046C>G (p.Tyr2682Ter)
NM_016239.4(MYO15A):c.8125C>T (p.Gln2709Ter)
NM_016239.4(MYO15A):c.8182C>G (p.Arg2728Gly)
NM_016239.4(MYO15A):c.8222T>C (p.Phe2741Ser)
NM_016239.4(MYO15A):c.8309_8311del (p.Glu2770del) rs1555546699
NM_016239.4(MYO15A):c.8363del (p.Gln2788fs) rs2142381999
NM_016239.4(MYO15A):c.837C>G (p.Tyr279Ter)
NM_016239.4(MYO15A):c.843C>A (p.Tyr281Ter)
NM_016239.4(MYO15A):c.8457C>G (p.Tyr2819Ter)
NM_016239.4(MYO15A):c.855dup (p.Pro286fs) rs2045868233
NM_016239.4(MYO15A):c.861C>G (p.Tyr287Ter)
NM_016239.4(MYO15A):c.8655dup (p.Leu2886fs)
NM_016239.4(MYO15A):c.867C>G (p.Tyr289Ter)
NM_016239.4(MYO15A):c.8791del (p.Trp2931fs) rs2142388348
NM_016239.4(MYO15A):c.8862del (p.Asp2955fs)
NM_016239.4(MYO15A):c.887del (p.Gly296fs)
NM_016239.4(MYO15A):c.8897_8900dup (p.Ala2968fs) rs2046704290
NM_016239.4(MYO15A):c.8940dup (p.Ala2981fs) rs1340142756
NM_016239.4(MYO15A):c.8944C>T (p.Gln2982Ter) rs774312110
NM_016239.4(MYO15A):c.9083dup (p.Asp3029fs)
NM_016239.4(MYO15A):c.9109G>T (p.Glu3037Ter) rs2046732267
NM_016239.4(MYO15A):c.9229+1G>A
NM_016239.4(MYO15A):c.9229+2T>C rs1057519606
NM_016239.4(MYO15A):c.92del (p.Lys31fs)
NM_016239.4(MYO15A):c.9469dup (p.Thr3157fs) rs2142399174
NM_016239.4(MYO15A):c.9518-2A>G
NM_016239.4(MYO15A):c.9538_9539del (p.Gln3180fs) rs1555547524
NM_016239.4(MYO15A):c.956dup (p.Ser320fs)
NM_016239.4(MYO15A):c.9571C>G (p.Arg3191Gly)
NM_016239.4(MYO15A):c.9571C>T (p.Arg3191Cys)
NM_016239.4(MYO15A):c.9676dup (p.Ile3226fs)
NM_016239.4(MYO15A):c.968dup (p.Ser324fs)
NM_016239.4(MYO15A):c.9690+1G>A rs2142404134
NM_016239.4(MYO15A):c.9691-2A>C
NM_016239.4(MYO15A):c.9778_9784del (p.Thr3260fs)
NM_016239.4(MYO15A):c.9876G>A (p.Trp3292Ter) rs779093807
NM_016239.4(MYO15A):c.9899del (p.Gln3300fs)
NM_016239.4(MYO15A):c.9909del (p.Lys3303fs)
NM_016239.4(MYO15A):c.9952del (p.Leu3318fs)
NM_016239.4(MYO15A):c.9995_10002dup (p.Ser3335fs)

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