ClinVar Miner

List of variants in gene GALT reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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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.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.652C>T (p.Leu218=) rs2070075 0.02537
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.253-5G>A rs762136953 0.00026
NM_000155.4(GALT):c.564+15G>A rs111033732 0.00015
NM_000155.4(GALT):c.507+12C>T rs199572263 0.00013
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.[652C>T;c.940A>G]
NM_000155.4(GALT):c.253-11C>T
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000155.4(GALT):c.820+2T>C

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