ClinVar Miner

List of variants in gene DAG1 reported as pathogenic for Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9

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Total variants: 5
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HGVS dbSNP
NC_000003.12:g.(?_49530787)_(49533209_?)del
NM_001165928.3(DAG1):c.285+1G>A
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter) rs1334656238
NM_004393.6(DAG1):c.330G>A (p.Trp110Ter)
NM_004393.6(DAG1):c.440del (p.Gln147fs) rs1553652503

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