List of variants reported as likely pathogenic for Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.2132G>A (p.Arg711Gln)	rs782176647	0.00002
NM_006306.4(SMC1A):c.2110C>T (p.Gln704Ter)
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)	rs587784409
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)	rs587784422

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