ClinVar Miner

List of variants in gene DLAT reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
DLAT, 3-BP DEL, 361GAA
NC_000011.9:g.(?_111896177)_(111922093_?)del
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001931.5(DLAT):c.976-1G>A rs367875541

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