ClinVar Miner

List of variants reported as uncertain significance for Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2

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Total variants: 3
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HGVS dbSNP
NM_013382.5(POMT2):c.320C>T (p.Pro107Leu) rs398124264
NM_013382.5(POMT2):c.334-3C>A rs1566658848
NM_013382.7(POMT2):c.1271A>G (p.His424Arg) rs1359158673

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