ClinVar Miner

List of variants in gene DLAT studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Total variants: 49
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HGVS dbSNP
DLAT, 3-BP DEL, 361GAA
NC_000011.9:g.(?_111896177)_(111922093_?)del
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.5(DLAT):c.1035A>G (p.Pro345=) rs140302942
NM_001931.5(DLAT):c.1040C>G (p.Thr347Ser)
NM_001931.5(DLAT):c.1071T>C (p.Val357=)
NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly) rs144235197
NM_001931.5(DLAT):c.1202C>T (p.Pro401Leu) rs781794850
NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln)
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436
NM_001931.5(DLAT):c.1310T>G (p.Met437Arg)
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314
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.144G>A (p.Val48=) rs367745211
NM_001931.5(DLAT):c.1476C>T (p.Pro492=) rs370501604
NM_001931.5(DLAT):c.1514A>G (p.Gln505Arg)
NM_001931.5(DLAT):c.318C>A (p.Gly106=) rs201070254
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.372A>C (p.Leu124=)
NM_001931.5(DLAT):c.382G>A (p.Val128Ile) rs144677434
NM_001931.5(DLAT):c.396dup (p.Ala133fs) rs782173047
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr) rs150145390
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001931.5(DLAT):c.506+11C>T rs77846695
NM_001931.5(DLAT):c.510T>A (p.Pro170=)
NM_001931.5(DLAT):c.54C>A (p.Leu18=)
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853
NM_001931.5(DLAT):c.572C>T (p.Ala191Val) rs200500508
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595
NM_001931.5(DLAT):c.628G>A (p.Ala210Thr) rs140678772
NM_001931.5(DLAT):c.675C>T (p.Ala225=) rs782220140
NM_001931.5(DLAT):c.693C>T (p.Thr231=) rs34680691
NM_001931.5(DLAT):c.754C>T (p.Leu252=) rs139194443
NM_001931.5(DLAT):c.759A>G (p.Ala253=) rs914123181
NM_001931.5(DLAT):c.848_849del (p.Asp283fs) rs782704553
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys) rs116125936
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser) rs149088081
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu)
NM_001931.5(DLAT):c.969A>C (p.Pro323=) rs587627931
NM_001931.5(DLAT):c.975+16G>T
NM_001931.5(DLAT):c.976-1G>A rs367875541
NM_001931.5(DLAT):c.983C>T (p.Ala328Val)
NM_001931.5(DLAT):c.991C>G (p.Pro331Ala) rs78320677

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