ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E2 deficiency

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ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441 0.51169
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436 0.32827
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_001931.5(DLAT):c.975+16G>T rs539991 0.06626
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595 0.04510
NM_001931.5(DLAT):c.693C>T (p.Thr231=) rs34680691 0.02685
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys) rs116125936 0.00703
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
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.46G>A (p.Ala16Thr) rs150145390 0.00091
NM_001931.5(DLAT):c.506+11C>T rs77846695 0.00077
NM_001931.5(DLAT):c.1677+8A>G rs201994231 0.00054
NM_001931.5(DLAT):c.1815-15T>C rs192297571 0.00051
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.572C>T (p.Ala191Val) rs200500508 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.1406A>G (p.Glu469Gly) rs376141049 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.583C>T (p.Pro195Ser) rs149440666 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.1547G>T (p.Ser516Ile) rs782629889 0.00004
NM_001931.5(DLAT):c.974C>T (p.Pro325Leu) rs782527135 0.00004
NM_001931.5(DLAT):c.1678-7C>T rs781917992 0.00003
NM_001931.5(DLAT):c.976-1G>A rs367875541 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.1289G>A (p.Arg430Gln) rs782627956 0.00002
NM_001931.5(DLAT):c.160G>T (p.Gly54Trp) rs782529801 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.1202C>T (p.Pro401Leu) rs781794850 0.00001
NM_001931.5(DLAT):c.1285C>A (p.Arg429Ser) rs782233322 0.00001
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu) rs1221769620 0.00001
NM_001931.5(DLAT):c.1447G>C (p.Ala483Pro) rs1555181965 0.00001
NM_001931.5(DLAT):c.1535G>A (p.Ser512Asn) rs113521778 0.00001
NM_001931.5(DLAT):c.1645A>G (p.Arg549Gly) rs147456178 0.00001
NM_001931.5(DLAT):c.1664C>A (p.Pro555Gln) rs1864460439 0.00001
NM_001931.5(DLAT):c.1669G>A (p.Glu557Lys) rs1864460815 0.00001
NM_001931.5(DLAT):c.1677+4G>C rs782793536 0.00001
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu) rs119103240 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.325G>A (p.Ala109Thr) rs782271482 0.00001
NM_001931.5(DLAT):c.32A>C (p.Asn11Thr) rs1035034726 0.00001
NM_001931.5(DLAT):c.343G>A (p.Glu115Lys) rs200147835 0.00001
NM_001931.5(DLAT):c.381+5_381+6insC rs782376838 0.00001
NM_001931.5(DLAT):c.381+6T>G rs1555179251 0.00001
NM_001931.5(DLAT):c.381+8T>G rs782048424 0.00001
NM_001931.5(DLAT):c.412G>T (p.Glu138Ter) rs781991355 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.898A>G (p.Ile300Val) rs1198304536 0.00001
NM_001931.5(DLAT):c.975G>A (p.Pro325=) rs1432866316 0.00001
NM_001931.5(DLAT):c.981C>T (p.Ala327=) rs782157762 0.00001
NM_001931.5(DLAT):c.983C>T (p.Ala328Val) rs781861956 0.00001
NC_000011.9:g.(?_111171709)_(112104278_?)dup
NC_000011.9:g.(?_111896177)_(111922093_?)del
NC_000011.9:g.(?_111896197)_(111899689_?)del
NC_000011.9:g.(?_111896197)_(111922093_?)dup
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.5(DLAT):c.1016C>T (p.Thr339Ile)
NM_001931.5(DLAT):c.1040C>G (p.Thr347Ser) rs982032675
NM_001931.5(DLAT):c.1130-6T>G
NM_001931.5(DLAT):c.1146T>A (p.Gly382=)
NM_001931.5(DLAT):c.1171_1172delinsAT (p.Ser391Ile)
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.1253G>A (p.Gly418Asp)
NM_001931.5(DLAT):c.1287T>G (p.Arg429=)
NM_001931.5(DLAT):c.1290+5G>A rs886047694
NM_001931.5(DLAT):c.1290G>A (p.Arg430=) rs782283884
NM_001931.5(DLAT):c.1291-10T>C
NM_001931.5(DLAT):c.1291-8G>C
NM_001931.5(DLAT):c.1303C>T (p.Arg435Ter)
NM_001931.5(DLAT):c.1310T>G (p.Met437Arg) rs1863289848
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.1374G>T (p.Leu458Phe) rs147264946
NM_001931.5(DLAT):c.1378G>T (p.Val460Leu)
NM_001931.5(DLAT):c.1384A>C (p.Lys462Gln) rs1863296122
NM_001931.5(DLAT):c.1399-13_1399-11del rs587691611
NM_001931.5(DLAT):c.1399-20A>C
NM_001931.5(DLAT):c.144G>A (p.Val48=) rs367745211
NM_001931.5(DLAT):c.146C>T (p.Thr49Ile)
NM_001931.5(DLAT):c.1501A>G (p.Thr501Ala)
NM_001931.5(DLAT):c.1514A>G (p.Gln505Arg) rs1863619150
NM_001931.5(DLAT):c.1515-13dup
NM_001931.5(DLAT):c.1515-7T>A
NM_001931.5(DLAT):c.1542G>C (p.Ala514=) rs587652725
NM_001931.5(DLAT):c.1567A>G (p.Thr523Ala) rs2135156193
NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)
NM_001931.5(DLAT):c.1677+21_1677+24del
NM_001931.5(DLAT):c.1677+9T>C
NM_001931.5(DLAT):c.1678-8del rs781833307
NM_001931.5(DLAT):c.167G>C (p.Arg56Pro) rs782260343
NM_001931.5(DLAT):c.1695C>A (p.Ile565=)
NM_001931.5(DLAT):c.169G>T (p.Ala57Ser)
NM_001931.5(DLAT):c.1703T>C (p.Leu568Ser) rs1566642089
NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser) rs782810132
NM_001931.5(DLAT):c.1771G>T (p.Gly591Cys)
NM_001931.5(DLAT):c.1784A>G (p.Asp595Gly)
NM_001931.5(DLAT):c.1806_1808dup (p.Asn602_Glu603insAsp) rs1864595330
NM_001931.5(DLAT):c.1823T>A (p.Val608Glu)
NM_001931.5(DLAT):c.1851T>C (p.Ser617=)
NM_001931.5(DLAT):c.1867G>C (p.Val623Leu)
NM_001931.5(DLAT):c.188C>T (p.Pro63Leu)
NM_001931.5(DLAT):c.222G>A (p.Leu74=)
NM_001931.5(DLAT):c.253T>C (p.Tyr85His) rs782202863
NM_001931.5(DLAT):c.253T>G (p.Tyr85Asp)
NM_001931.5(DLAT):c.265C>A (p.Pro89Thr)
NM_001931.5(DLAT):c.270G>C (p.Pro90=)
NM_001931.5(DLAT):c.279+18C>T
NM_001931.5(DLAT):c.279+18dup
NM_001931.5(DLAT):c.280-15C>T rs782149548
NM_001931.5(DLAT):c.306A>G (p.Thr102=) rs2137678633
NM_001931.5(DLAT):c.355A>G (p.Ile119Val) rs1555179245
NM_001931.5(DLAT):c.362_364del (p.Glu121del) rs2137679109
NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr) rs1555179247
NM_001931.5(DLAT):c.372A>C (p.Leu124=) rs1861999426
NM_001931.5(DLAT):c.381+1G>T
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.396dup (p.Ala133fs) rs782173047
NM_001931.5(DLAT):c.417C>T (p.Ser139=) rs2137698040
NM_001931.5(DLAT):c.436G>A (p.Ala146Thr) rs1201600211
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001931.5(DLAT):c.476del (p.Ile159fs)
NM_001931.5(DLAT):c.478G>A (p.Gly160Arg)
NM_001931.5(DLAT):c.482C>T (p.Ala161Val)
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.561_584dup (p.Pro197_Ala198insGlnAlaAlaProAlaProThrPro)
NM_001931.5(DLAT):c.563C>A (p.Thr188Asn)
NM_001931.5(DLAT):c.568C>T (p.Gln190Ter)
NM_001931.5(DLAT):c.577C>G (p.Pro193Ala) rs2137699929
NM_001931.5(DLAT):c.592G>A (p.Ala198Thr)
NM_001931.5(DLAT):c.605C>T (p.Ser202Leu)
NM_001931.5(DLAT):c.629C>T (p.Ala210Val)
NM_001931.5(DLAT):c.635G>A (p.Gly212Asp)
NM_001931.5(DLAT):c.660+19G>C
NM_001931.5(DLAT):c.723dup (p.Val242fs)
NM_001931.5(DLAT):c.735G>A (p.Lys245=)
NM_001931.5(DLAT):c.788-20_788-18del
NM_001931.5(DLAT):c.802del (p.Glu268fs)
NM_001931.5(DLAT):c.810T>G (p.Gly270=)
NM_001931.5(DLAT):c.848_849del (p.Asp283fs) rs782704553
NM_001931.5(DLAT):c.856C>G (p.Leu286Val)
NM_001931.5(DLAT):c.887A>G (p.Lys296Arg) rs2137753489
NM_001931.5(DLAT):c.891G>A (p.Glu297=)
NM_001931.5(DLAT):c.895G>T (p.Asp299Tyr) rs1862828399
NM_001931.5(DLAT):c.900A>G (p.Ile300Met)
NM_001931.5(DLAT):c.921G>A (p.Arg307=) rs1555180610
NM_001931.5(DLAT):c.934A>G (p.Thr312Ala)
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu) rs1862832629
NM_001931.5(DLAT):c.957A>G (p.Pro319=)
NM_001931.5(DLAT):c.960_971del (p.Thr322_Pro325del)
NM_001931.5(DLAT):c.975+13C>T rs2137754185
NM_001931.5(DLAT):c.975+15_975+16delinsGT rs2137754230
NM_001931.5(DLAT):c.975+4G>A
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.982G>A (p.Ala328Thr) rs1862931114
NM_001931.5(DLAT):c.98G>A (p.Arg33Gln) rs2137674476
NM_001931.5(DLAT):c.9C>T (p.Arg3=)

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