ClinVar Miner

List of variants reported as likely pathogenic for Deafness, autosomal recessive 3

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Total variants: 25
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HGVS dbSNP
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.3(MYO15A):c.8183G>A rs184435771
NM_016239.4(MYO15A):c.10209delinsCCAGGCCCGTGCAGCTC (p.Gln3403fs) rs1057519601
NM_016239.4(MYO15A):c.10247_10249CCT[1] (p.Ser3417del)
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) rs772536599
NM_016239.4(MYO15A):c.1971G>A (p.Trp657Ter) rs1567623176
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met) rs773648511
NM_016239.4(MYO15A):c.3233G>A (p.Trp1078Ter) rs866595552
NM_016239.4(MYO15A):c.346_376del (p.Gly116fs) rs1597747826
NM_016239.4(MYO15A):c.3932T>C (p.Ile1311Thr) rs1057519603
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn)
NM_016239.4(MYO15A):c.4454T>C (p.Leu1485Pro) rs751973078
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs) rs1555543836
NM_016239.4(MYO15A):c.5461del (p.Val1821fs)
NM_016239.4(MYO15A):c.5941G>T (p.Gly1981Trp) rs1240409145
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200
NM_016239.4(MYO15A):c.6177+1G>T rs751142446
NM_016239.4(MYO15A):c.6764+2T>A rs763975867
NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter) rs1330406146
NM_016239.4(MYO15A):c.8088+1G>A rs773461233
NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter) rs1567658710
NM_016239.4(MYO15A):c.9084-1G>T rs1567658906
NM_016239.4(MYO15A):c.9371dup (p.Asn3124fs)
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998

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