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: 5
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HGVS dbSNP
NM_013334.3(GMPPB):c.1069G>A (p.Val357Ile) rs199922550
NM_021971.2(GMPPB):c.1000G>A rs397509422
NM_021971.2(GMPPB):c.1070G>A (p.Arg357His)
NM_021971.2(GMPPB):c.402+1G>A
NM_021971.2(GMPPB):c.640+1G>A

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