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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HGVS	dbSNP
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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