ClinVar Miner

List of variants studied for Congenital muscular hypertrophy-cerebral syndrome by Mendelics

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Total variants: 6

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HGVS	dbSNP
NM_001281463.1(SMC1A):c.2381G>A (p.Arg794His)	rs886044819
NM_006306.4(SMC1A):c.1964G>A (p.Gly655Glu)	rs1602410098
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter)	rs1602405588
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter)	rs1602398950
NM_006306.4(SMC1A):c.583G>T (p.Glu195Ter)	rs1602413582
NM_006306.4(SMC1A):c.615+2T>C	rs868985177

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