ClinVar Miner

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

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Total variants: 8
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NM_001281463.1(SMC1A):c.1048-2A>G rs1569358628
NM_001281463.1(SMC1A):c.1421G>A (p.Arg474His) rs122454123
NM_001281463.1(SMC1A):c.2328dup (p.Arg777fs) rs1569356555
NM_001281463.1(SMC1A):c.2481del (p.Ile827fs) rs797045069
NM_001281463.1(SMC1A):c.50C>G (p.Ser17Ter) rs1057518670
NM_001281463.1(SMC1A):c.589del (p.Ala197fs) rs1569359048
NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del) rs727503773
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458

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