ClinVar Miner

List of variants reported as uncertain significance for Congenital muscular hypertrophy-cerebral syndrome by Genetic Services Laboratory,University of Chicago

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Total variants: 6
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NM_001281463.1(SMC1A):c.1188+11G>C rs144354524
NM_001281463.1(SMC1A):c.1479+4A>C rs377270943
NM_001281463.1(SMC1A):c.219C>G (p.Ala73=) rs587784414
NM_001281463.1(SMC1A):c.2284A>G (p.Ile762Val) rs587784411
NM_001281463.1(SMC1A):c.3186C>T (p.Ile1062=) rs587784417
NM_001281463.1(SMC1A):c.789-15C>T rs147791932

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