ClinVar Miner

List of variants reported as likely benign for Pyruvate dehydrogenase E2 deficiency

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ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853 0.00160
NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly) rs144235197 0.00129
NM_001931.5(DLAT):c.628G>A (p.Ala210Thr) rs140678772 0.00103
NM_001931.5(DLAT):c.1677+8A>G rs201994231 0.00054
NM_001931.5(DLAT):c.754C>T (p.Leu252=) rs139194443 0.00048
NM_001931.5(DLAT):c.1636A>G (p.Thr546Ala) rs143152014 0.00046
NM_001931.5(DLAT):c.382G>A (p.Val128Ile) rs144677434 0.00040
NM_001931.5(DLAT):c.1290+13C>T rs781932978 0.00023
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser) rs149088081 0.00021
NM_001931.5(DLAT):c.109C>G (p.Arg37Gly) rs183829292 0.00020
NM_001931.5(DLAT):c.1476C>T (p.Pro492=) rs370501604 0.00016
NM_001931.5(DLAT):c.828G>T (p.Leu276=) rs199835215 0.00016
NM_001931.5(DLAT):c.1399-13C>T rs374698306 0.00014
NM_001931.5(DLAT):c.279+13C>A rs187974706 0.00014
NM_001931.5(DLAT):c.381+12_381+13insG rs781916881 0.00014
NM_001931.5(DLAT):c.687C>T (p.Thr229=) rs144642035 0.00014
NM_001931.5(DLAT):c.318C>A (p.Gly106=) rs201070254 0.00013
NM_001931.5(DLAT):c.969A>C (p.Pro323=) rs587627931 0.00012
NM_001931.5(DLAT):c.1743C>T (p.Asn581=) rs150592352 0.00011
NM_001931.5(DLAT):c.506+9T>C rs782244285 0.00011
NM_001931.5(DLAT):c.1374G>A (p.Leu458=) rs147264946 0.00009
NM_001931.5(DLAT):c.1692G>A (p.Thr564=) rs185907405 0.00009
NM_001931.5(DLAT):c.1290+17C>T rs374530178 0.00007
NM_001931.5(DLAT):c.177C>T (p.Cys59=) rs150994149 0.00007
NM_001931.5(DLAT):c.506+12G>A rs372355218 0.00007
NM_001931.5(DLAT):c.870C>T (p.Leu290=) rs587754043 0.00007
NM_001931.5(DLAT):c.1035A>G (p.Pro345=) rs140302942 0.00006
NM_001931.5(DLAT):c.1735A>G (p.Ile579Val) rs371341957 0.00006
NM_001931.5(DLAT):c.606G>A (p.Ser202=) rs148153443 0.00006
NM_001931.5(DLAT):c.675C>T (p.Ala225=) rs782220140 0.00006
NM_001931.5(DLAT):c.681T>C (p.Ser227=) rs781985635 0.00006
NM_001931.5(DLAT):c.165C>G (p.Val55=) rs199520186 0.00005
NM_001931.5(DLAT):c.1542G>A (p.Ala514=) rs587652725 0.00004
NM_001931.5(DLAT):c.1678-7C>T rs781917992 0.00003
NM_001931.5(DLAT):c.991C>G (p.Pro331Ala) rs78320677 0.00003
NM_001931.5(DLAT):c.1198-16T>C rs377389152 0.00002
NM_001931.5(DLAT):c.381+9T>G rs1363476657 0.00002
NM_001931.5(DLAT):c.402T>C (p.Thr134=) rs886047693 0.00002
NM_001931.5(DLAT):c.1071T>C (p.Val357=) rs1306854057 0.00001
NM_001931.5(DLAT):c.1198-20C>T rs1281574403 0.00001
NM_001931.5(DLAT):c.240G>A (p.Ser80=) rs587735788 0.00001
NM_001931.5(DLAT):c.252C>T (p.Arg84=) rs782672095 0.00001
NM_001931.5(DLAT):c.267C>A (p.Pro89=) rs782078082 0.00001
NM_001931.5(DLAT):c.381+8T>G rs782048424 0.00001
NM_001931.5(DLAT):c.654C>T (p.His218=) rs1472423442 0.00001
NM_001931.5(DLAT):c.759A>G (p.Ala253=) rs914123181 0.00001
NM_001931.5(DLAT):c.864C>G (p.Thr288=) rs782236703 0.00001
NM_001931.5(DLAT):c.981C>T (p.Ala327=) rs782157762 0.00001
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.5(DLAT):c.1146T>A (p.Gly382=)
NM_001931.5(DLAT):c.1197+11T>A
NM_001931.5(DLAT):c.1197+17T>A rs2137783179
NM_001931.5(DLAT):c.1197+20T>C rs2137783207
NM_001931.5(DLAT):c.1287T>G (p.Arg429=)
NM_001931.5(DLAT):c.1291-10T>C
NM_001931.5(DLAT):c.1291-8G>C
NM_001931.5(DLAT):c.1350C>T (p.Ile450=) rs587724011
NM_001931.5(DLAT):c.1353T>C (p.Asp451=)
NM_001931.5(DLAT):c.1368A>G (p.Glu456=)
NM_001931.5(DLAT):c.1399-20A>C
NM_001931.5(DLAT):c.144G>A (p.Val48=) rs367745211
NM_001931.5(DLAT):c.1515-7T>A
NM_001931.5(DLAT):c.1542G>C (p.Ala514=) rs587652725
NM_001931.5(DLAT):c.1677+21_1677+24del
NM_001931.5(DLAT):c.1677+9T>C
NM_001931.5(DLAT):c.1695C>A (p.Ile565=)
NM_001931.5(DLAT):c.1851T>C (p.Ser617=)
NM_001931.5(DLAT):c.222G>A (p.Leu74=)
NM_001931.5(DLAT):c.279+18C>T
NM_001931.5(DLAT):c.280-15C>T rs782149548
NM_001931.5(DLAT):c.306A>G (p.Thr102=) rs2137678633
NM_001931.5(DLAT):c.372A>C (p.Leu124=) rs1861999426
NM_001931.5(DLAT):c.381+7T>A rs1165421307
NM_001931.5(DLAT):c.382-16C>T
NM_001931.5(DLAT):c.382-19C>G
NM_001931.5(DLAT):c.417C>T (p.Ser139=) rs2137698040
NM_001931.5(DLAT):c.486C>G (p.Ile162Met)
NM_001931.5(DLAT):c.489C>T (p.Ile163=)
NM_001931.5(DLAT):c.507-12T>G rs2137699407
NM_001931.5(DLAT):c.507-16T>A
NM_001931.5(DLAT):c.510T>A (p.Pro170=) rs367605727
NM_001931.5(DLAT):c.54C>A (p.Leu18=) rs1286345918
NM_001931.5(DLAT):c.660+19G>C
NM_001931.5(DLAT):c.735G>A (p.Lys245=)
NM_001931.5(DLAT):c.788-20_788-18del
NM_001931.5(DLAT):c.810T>G (p.Gly270=)
NM_001931.5(DLAT):c.891G>A (p.Glu297=)
NM_001931.5(DLAT):c.921G>A (p.Arg307=) rs1555180610
NM_001931.5(DLAT):c.957A>G (p.Pro319=)
NM_001931.5(DLAT):c.975+13C>T rs2137754185
NM_001931.5(DLAT):c.975+15_975+16delinsGT rs2137754230
NM_001931.5(DLAT):c.976-13T>G
NM_001931.5(DLAT):c.976-15A>T rs1555180789
NM_001931.5(DLAT):c.976-2del rs781853215
NM_001931.5(DLAT):c.9C>T (p.Arg3=)

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