ClinVar Miner

List of variants studied for Congenital muscular hypertrophy-cerebral syndrome by OMIM

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Total variants: 6

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HGVS	dbSNP
NM_001281463.1(SMC1A):c.1412A>C (p.Glu471Ala)	rs122454122
NM_001281463.1(SMC1A):c.1421G>A (p.Arg474His)	rs122454123
NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr)	rs387906702
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu)	rs1602407457
SMC1A, 15-BP DEL, NT173
SMC1A, 8.152-KB DEL

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