ClinVar Miner

List of variants reported as likely pathogenic for Congenital muscular hypertrophy-cerebral syndrome by Baylor Genetics

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Total variants: 4
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NM_001281463.1(SMC1A):c.2354G>A (p.Arg785His) rs1569356550
NM_001281463.1(SMC1A):c.44G>T (p.Gly15Val) rs1569359540
NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys) rs587784422
NM_001281463.1(SMC1A):c.62A>T (p.Asp21Val) rs1569359535

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