ClinVar Miner

List of variants studied for Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6

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Total variants: 3
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HGVS dbSNP
NM_004737.6(LARGE1):c.1413C>A (p.Ser471Arg) rs376160270
NM_004737.6(LARGE1):c.1420G>A (p.Val474Ile) rs150861748
NM_004737.6(LARGE1):c.211G>A (p.Glu71Lys) rs116164106

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