ClinVar Miner

List of variants in gene GALT reported as benign for Galactosemia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
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.507+62G>A rs2277202 0.04610
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.879C>T (p.Ser293=) rs115527942 0.00407
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984 0.00290
NM_000155.4(GALT):c.508-17G>A rs12000481

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