ClinVar Miner

List of variants in gene MYO15A reported as pathogenic by Molecular Diagnosis Center for Deafness

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Gene type:
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Total variants: 53
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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.5964+3G>C rs530975087 0.00009
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.5977C>T (p.Arg1993Trp) rs759663463 0.00004
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.6956+9C>G rs1482709090 0.00001
NM_016239.4(MYO15A):c.7396-1G>A rs760461823 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.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.1185dup (p.Glu396fs) rs772536599
NM_016239.4(MYO15A):c.1201del (p.Tyr401fs) rs2142244823
NM_016239.4(MYO15A):c.201_202del (p.Gln68fs) rs2142236482
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.3700C>T (p.Gln1234Ter) rs2142274433
NM_016239.4(MYO15A):c.3829C>T (p.Gln1277Ter) rs2142280018
NM_016239.4(MYO15A):c.4441T>C (p.Ser1481Pro) rs758896141
NM_016239.4(MYO15A):c.5134-1G>A rs2142330705
NM_016239.4(MYO15A):c.5531+1G>A rs727503309
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.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.6177+1G>T rs751142446
NM_016239.4(MYO15A):c.7523del (p.Pro2508fs) rs2142369409
NM_016239.4(MYO15A):c.7698_7699del (p.Glu2567fs) rs2142370409
NM_016239.4(MYO15A):c.8130dup (p.Asp2711Ter) rs2142377997
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.8583del (p.Phe2861fs) rs2142384617
NM_016239.4(MYO15A):c.8713+3_8713+6del rs2142386632
NM_016239.4(MYO15A):c.8746GTG[1] (p.Val2917del) rs2142387013
NM_016239.4(MYO15A):c.8828dup (p.Ser2945fs) rs751628774
NM_016239.4(MYO15A):c.8976dup (p.Val2993fs) rs2142391112
NM_016239.4(MYO15A):c.900del (p.Pro301fs) rs2142242418
NM_016239.4(MYO15A):c.9358C>T (p.Gln3120Ter) rs774255124
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

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