ClinVar Miner

List of variants studied for Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects by Molecular Genetics Lab, CHRU Brest

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.2299del (p.Glu767fs)
NM_006306.4(SMC1A):c.298+2T>C
NM_006306.4(SMC1A):c.3118G>A (p.Glu1040Lys)
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416

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