ClinVar Miner

List of variants in gene POMT2 reported as uncertain significance for Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2

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Total variants: 2
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NM_013382.5(POMT2):c.1248C>G (p.His416Gln) rs1566649375
NM_013382.5(POMT2):c.334-3C>A rs1566658848

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