ClinVar Miner

List of variants in gene GALT reported as uncertain significance by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 32
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HGVS dbSNP
NM_000155.3(GALT):c.779_790delATGTGCGGCGGC (p.His260_Arg263del) rs111033762
NM_000155.4(GALT):c.*8G>A rs370285476
NM_000155.4(GALT):c.1022T>C (p.Met341Thr) rs1248681332
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930
NM_000155.4(GALT):c.172G>A (p.Glu58Lys) rs1554709147
NM_000155.4(GALT):c.211C>G (p.Leu71Val) rs143994870
NM_000155.4(GALT):c.268G>C (p.Asp90His) rs201330799
NM_000155.4(GALT):c.275C>A (p.Thr92Asn) rs1554709207
NM_000155.4(GALT):c.313G>A (p.Asp105Asn) rs1564100971
NM_000155.4(GALT):c.328+7T>C rs774350978
NM_000155.4(GALT):c.329G>A (p.Gly110Glu) rs1057523885
NM_000155.4(GALT):c.377+7A>G rs376026879
NM_000155.4(GALT):c.390C>T (p.Cys130=) rs1410761611
NM_000155.4(GALT):c.413C>G (p.Thr138Arg) rs111033686
NM_000155.4(GALT):c.507+12C>T rs199572263
NM_000155.4(GALT):c.507+17C>T rs747136664
NM_000155.4(GALT):c.564+7G>A rs760189807
NM_000155.4(GALT):c.640G>A (p.Gly214Arg) rs1413579895
NM_000155.4(GALT):c.678A>G (p.Leu226=) rs777577533
NM_000155.4(GALT):c.715T>C (p.Trp239Arg) rs1336294207
NM_000155.4(GALT):c.754C>A (p.Gln252Lys) rs1564101859
NM_000155.4(GALT):c.785_787GGC[3] (p.Arg263dup) rs1554709431
NM_000155.4(GALT):c.799C>T (p.Leu267=) rs764006034
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.820+18G>A rs1564101965
NM_000155.4(GALT):c.82G>A (p.Asp28Asn) rs111033636
NM_000155.4(GALT):c.851C>A (p.Thr284Asn) rs753364304
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.885C>G (p.Pro295=) rs1554709446
NM_000155.4(GALT):c.902A>G (p.His301Arg) rs886042065
NM_000155.4(GALT):c.91C>A (p.His31Asn) rs111033643
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266

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