ClinVar Miner

List of variants reported as likely pathogenic for MYH9-related disorder

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Total variants: 12
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HGVS dbSNP
NM_002473.5(MYH9):c.1119G>C (p.Lys373Asn) rs1603483388
NM_002473.5(MYH9):c.2104C>A (p.Arg702Ser) rs80338826
NM_002473.5(MYH9):c.2105G>A (p.Arg702His) rs80338827
NM_002473.5(MYH9):c.220A>G (p.Lys74Glu) rs1603484048
NM_002473.5(MYH9):c.2507C>T (p.Pro836Leu) rs1603483077
NM_002473.5(MYH9):c.4271A>G (p.Asp1424Gly) rs867593888
NM_002473.5(MYH9):c.4340A>G (p.Asp1447Gly) rs797044804
NM_002473.5(MYH9):c.4340A>T (p.Asp1447Val) rs797044804
NM_002473.5(MYH9):c.97T>G (p.Trp33Gly) rs1603484060
NM_002473.6(MYH9):c.2668del (p.Gln890fs) rs1603483058
NM_002473.6(MYH9):c.5800del (p.Met1934fs) rs1603482652
NM_002473.6(MYH9):c.5808del (p.Gly1938fs) rs1603482650

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