ClinVar Miner

List of variants reported as pathogenic for Congenital glucose-galactose malabsorption

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Total variants: 7
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NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs) rs1455367784
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter)
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) rs779502629
NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn) rs121912668
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly) rs121912669

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