ClinVar Miner

List of variants in gene MYO15A reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter) rs1345580310 0.00001
NM_016239.4(MYO15A):c.10373del (p.Leu3458fs) rs1310479415
NM_016239.4(MYO15A):c.1661dup (p.Leu555fs) rs1245338270
NM_016239.4(MYO15A):c.4057del (p.Leu1353fs) rs770991317
NM_016239.4(MYO15A):c.406_407insAGTT (p.Trp136Ter) rs1555537955
NM_016239.4(MYO15A):c.6440dup (p.Trp2148fs) rs1555545225

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