ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_001931.5(DLAT):c.1040C>G (p.Thr347Ser)
NM_001931.5(DLAT):c.1202C>T (p.Pro401Leu) rs781794850
NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln)
NM_001931.5(DLAT):c.1310T>G (p.Met437Arg)
NM_001931.5(DLAT):c.1384A>C (p.Lys462Gln)
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu)
NM_001931.5(DLAT):c.1406A>G (p.Glu469Gly)
NM_001931.5(DLAT):c.1514A>G (p.Gln505Arg)
NM_001931.5(DLAT):c.32A>C (p.Asn11Thr)
NM_001931.5(DLAT):c.343G>A (p.Glu115Lys)
NM_001931.5(DLAT):c.355A>G (p.Ile119Val) rs1555179245
NM_001931.5(DLAT):c.382G>A (p.Val128Ile) rs144677434
NM_001931.5(DLAT):c.396dup (p.Ala133fs) rs782173047
NM_001931.5(DLAT):c.510T>A (p.Pro170=)
NM_001931.5(DLAT):c.572C>T (p.Ala191Val) rs200500508
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu)
NM_001931.5(DLAT):c.983C>T (p.Ala328Val)

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