ClinVar Miner

List of variants in gene GALT studied for not specified

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Total variants: 42
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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.1066_1067GA[2] (p.Arg357fs) rs1554709579
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819
NM_000155.4(GALT):c.313G>A (p.Asp105Asn) rs1564100971
NM_000155.4(GALT):c.329-24G>A rs114539202
NM_000155.4(GALT):c.377+55T>C rs184214383
NM_000155.4(GALT):c.378-27G>C rs41274865
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
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.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249
NM_000155.4(GALT):c.507+12C>T rs199572263
NM_000155.4(GALT):c.507+62G>A rs2277202
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000155.4(GALT):c.508-24G>A rs41274867
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) rs111033718
NM_000155.4(GALT):c.556C>A (p.His186Asn) rs111033725
NM_000155.4(GALT):c.564+15G>A rs111033732
NM_000155.4(GALT):c.564+7G>A rs760189807
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739
NM_000155.4(GALT):c.640G>A (p.Gly214Arg) rs1413579895
NM_000155.4(GALT):c.687+9G>C rs117998880
NM_000155.4(GALT):c.748C>A (p.Pro250Thr) rs111033759
NM_000155.4(GALT):c.753C>T (p.Tyr251=) rs367543261
NM_000155.4(GALT):c.754C>A (p.Gln252Lys) rs1564101859
NM_000155.4(GALT):c.799C>T (p.Leu267=) rs764006034
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.820+18G>A rs1564101965
NM_000155.4(GALT):c.83-46G>C rs201156392
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.904+3G>T rs1554709450
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982

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