ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP
NM_016239.3(MYO15A):c.10209delGinsCCAGGCCCGTGCAGCTC (p.Gln3403Hisfs) rs1057519601
NM_016239.3(MYO15A):c.1137delC (p.Tyr380Metfs) rs769260536
NM_016239.3(MYO15A):c.3932T>C (p.Ile1311Thr) rs1057519603
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.3(MYO15A):c.5055dupC (p.Asn1686Glnfs) rs1555543836
NM_016239.3(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200
NM_016239.3(MYO15A):c.7050C>A (p.Tyr2350Ter) rs1330406146
NM_016239.3(MYO15A):c.8183G>A rs184435771
NM_016239.3(MYO15A):c.9061C>T (p.Arg3021Ter)
NM_016239.4(MYO15A):c.1971G>A (p.Trp657Ter)
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met)
NM_016239.4(MYO15A):c.3233G>A (p.Trp1078Ter)
NM_016239.4(MYO15A):c.5941G>T (p.Gly1981Trp)
NM_016239.4(MYO15A):c.6177+1G>T
NM_016239.4(MYO15A):c.8088+1G>A
NM_016239.4(MYO15A):c.9084-1G>T

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