ClinVar Miner

List of variants in gene B3GALNT2 reported as likely benign for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

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Total variants: 4
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HGVS dbSNP
NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=) rs1057522976
NM_152490.5(B3GALNT2):c.113-1376C>T
NM_152490.5(B3GALNT2):c.113-1439dup
NM_152490.5(B3GALNT2):c.249A>T (p.Thr83=) rs770930732

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