ClinVar Miner

List of variants in gene GALT reported by PreventionGenetics, part of Exact Sciences

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000155.4(GALT):c.378-27G>C rs41274865 0.04615
NM_000155.4(GALT):c.508-24G>A rs41274867 0.04612
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607 0.02790
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000155.3(GALT):c.-88G>A rs144505931 0.00042
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750 0.00005
NM_000155.4(GALT):c.270T>C (p.Asp90=) rs1300102277 0.00004
NM_000155.4(GALT):c.1017C>T (p.Tyr339=) rs759417724 0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695 0.00001
NM_000155.4(GALT):c.753C>T (p.Tyr251=) rs367543261 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.*5G>A
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.328+1G>C
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.508-37C>T
NM_000155.4(GALT):c.568T>C (p.Trp190Arg) rs398123184
NM_000155.4(GALT):c.83-46G>C rs201156392
NM_000155.4(GALT):c.85C>T (p.His29Tyr)

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