ClinVar Miner

List of variants reported as likely pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1

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Total variants: 2
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HGVS dbSNP
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) rs730882237
NM_007171.3(POMT1):c.558G>A (p.Trp186Ter) rs772370177

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