ClinVar Miner

List of variants reported as pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 by Invitae

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Total variants: 7
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NC_000001.11:g.(?_235465599)_(235465734_?)del rs0
NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs) rs1553342786
NM_152490.5(B3GALNT2):c.1275_1278delinsCCT (p.Trp425fs) rs0
NM_152490.5(B3GALNT2):c.199C>T (p.Arg67Ter) rs0
NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter) rs1282726649
NM_152490.5(B3GALNT2):c.699del (p.Val234fs) rs1572513308
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075

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