ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000343.4(SLC5A1):c.1666-2del rs764819816 0.00003
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter) rs202166715 0.00003
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893 0.00001
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) rs779502629 0.00001
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly) rs121912669 0.00001
NM_000343.4(SLC5A1):c.875G>A (p.Cys292Tyr) rs765502638 0.00001
NM_000343.4(SLC5A1):c.1151C>G (p.Ser384Ter)
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter) rs200206252
NM_000343.4(SLC5A1):c.1388T>A (p.Leu463Ter) rs2517673510
NM_000343.4(SLC5A1):c.1394_1395insT (p.Pro466fs) rs2149496680
NM_000343.4(SLC5A1):c.1496G>C (p.Arg499Pro) rs927157864
NM_000343.4(SLC5A1):c.1683G>A (p.Trp561Ter) rs2517677261
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs) rs1455367784
NM_000343.4(SLC5A1):c.259del (p.Leu87fs)
NM_000343.4(SLC5A1):c.673G>T (p.Glu225Ter) rs774829996
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp) rs888909415
NM_000343.4(SLC5A1):c.824del (p.Pro275fs) rs2517662048
NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn) rs121912668
NM_000343.4(SLC5A1):c.866G>A (p.Trp289Ter)

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