ClinVar Miner

List of variants reported as likely pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14

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Total variants: 8
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HGVS dbSNP
NM_021971.2(GMPPB):c.1000G>A rs397509422
NM_021971.4(GMPPB):c.1070G>A (p.Arg357His) rs771861177
NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys) rs145535498
NM_021971.4(GMPPB):c.402+1G>A rs145564018
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile) rs202013297
NM_021971.4(GMPPB):c.640+1G>A rs141588721
NM_021971.4(GMPPB):c.769-2A>G
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550

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