ClinVar Miner

List of variants in gene B4GAT1 reported as likely benign for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13

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Total variants: 7
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HGVS dbSNP
NM_006876.3(B4GAT1):c.1206G>A (p.Gln402=) rs771065781
NM_006876.3(B4GAT1):c.152C>T (p.Pro51Leu) rs531686913
NM_006876.3(B4GAT1):c.162G>T (p.Arg54=) rs751180898
NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr) rs201892419
NM_006876.3(B4GAT1):c.69G>C (p.Ala23=) rs146812867
NM_006876.3(B4GAT1):c.780C>T (p.Phe260=) rs1319732212
NM_006876.3(B4GAT1):c.924G>A (p.Pro308=) rs200574075

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