ClinVar Miner

List of variants reported for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=) rs35207939 0.01004
NM_032806.6(POMGNT2):c.1385G>A (p.Arg462Gln) rs34083889
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889

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