ClinVar Miner

List of variants reported as pathogenic by PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University

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Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_000284.3:c.562_858dup
NM_000284.3:c.899_918del
NM_000284.3:c.966_1011dup
NM_000284.4(PDHA1):c.1006_1008dup (p.Lys336_Glu337insLys)
NM_000284.4(PDHA1):c.1008+1_1008+27del rs863224155
NM_000284.4(PDHA1):c.1011_1031dup (p.Lys344_Glu345insIleAspValGluValArgLys)
NM_000284.4(PDHA1):c.1014_1032dup (p.Glu345Ter)
NM_000284.4(PDHA1):c.1022_1034del (p.Glu341fs)
NM_000284.4(PDHA1):c.1026_1051dup (p.Gln351fs)
NM_000284.4(PDHA1):c.1026_1130dup (p.Arg378_Gly379insLysGluIleGluAspAlaAlaGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg)
NM_000284.4(PDHA1):c.1033_1078dup (p.Pro360delinsArgAspTer)
NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs) rs1555935473
NM_000284.4(PDHA1):c.1040_1046dup (p.Ala350fs)
NM_000284.4(PDHA1):c.1042_1045dup (p.Ala349fs)
NM_000284.4(PDHA1):c.1046_1047insCAAT (p.Ala350fs)
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) rs1555935486
NM_000284.4(PDHA1):c.1051C>T (p.Gln351Ter)
NM_000284.4(PDHA1):c.1054_1057del (p.Phe352fs)
NM_000284.4(PDHA1):c.1062_1124dup (p.Pro374_Phe375insLeuAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProPro)
NM_000284.4(PDHA1):c.1064_1065insTAAG (p.Asp356fs)
NM_000284.4(PDHA1):c.1065del (p.Asp356fs)
NM_000284.4(PDHA1):c.1066_1090dup (p.Leu364delinsArgSerTer)
NM_000284.4(PDHA1):c.1069_1114dup (p.Asp372delinsAlaTer)
NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs) rs606231187
NM_000284.4(PDHA1):c.1073_1094del (p.Glu358fs)
NM_000284.4(PDHA1):c.1081_1125dup (p.Phe375_Glu376insLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPhe)
NM_000284.4(PDHA1):c.1083_1102dup (p.Ile368fs)
NM_000284.4(PDHA1):c.1085_1093dup (p.Leu364_Gly365insGluGluLeu)
NM_000284.4(PDHA1):c.1087_1119dup (p.Pro373_Pro374insGluLeuGlyTyrHisIleTyrSerSerAspPro)
NM_000284.4(PDHA1):c.1090_1155dup (p.Lys385_Phe386insLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArgGlyAlaAsnGlnTrpIleLys)
NM_000284.4(PDHA1):c.1093_1112dup (p.Ser371fs)
NM_000284.4(PDHA1):c.1100A>T (p.His367Leu) rs1131691584
NM_000284.4(PDHA1):c.1103_1116dup (p.Pro373fs)
NM_000284.4(PDHA1):c.1106_1108del (p.Tyr369del)
NM_000284.4(PDHA1):c.1119_1123del (p.Pro373_Pro374insTer)
NM_000284.4(PDHA1):c.1121_1144dup (p.Asn381_Gln382insProPheGluValArgGlyAlaAsn)
NM_000284.4(PDHA1):c.1124_1125dup (p.Glu376fs)
NM_000284.4(PDHA1):c.1124_1132del (p.Phe375_Arg378delinsCys)
NM_000284.4(PDHA1):c.1125del (p.Phe375fs)
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000284.4(PDHA1):c.1134_1159dup (p.Lys387fs)
NM_000284.4(PDHA1):c.1137_1159dup (p.Lys387fs)
NM_000284.4(PDHA1):c.1138_1157dup (p.Phe386fs)
NM_000284.4(PDHA1):c.1139_1142dup (p.Trp383fs)
NM_000284.4(PDHA1):c.1140_1150dup (p.Ile384fs)
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1142_1164del (p.Asn381fs)
NM_000284.4(PDHA1):c.1143_1154del (p.Asn381_Ile384del)
NM_000284.4(PDHA1):c.1144C>T (p.Gln382Ter)
NM_000284.4(PDHA1):c.1144_1147dup (p.Trp383fs)
NM_000284.4(PDHA1):c.1144_1159dup (p.Lys387delinsThrValAspGlnValTer)
NM_000284.4(PDHA1):c.1147T>C (p.Trp383Arg)
NM_000284.4(PDHA1):c.1147_1158dup (p.Phe386_Lys387insTrpIleLysPhe)
NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter) rs2518508012
NM_000284.4(PDHA1):c.1157_1158dup (p.Lys387fs)
NM_000284.4(PDHA1):c.1157_1162del (p.Phe386_Lys387del)
NM_000284.4(PDHA1):c.1157_1162dup (p.Lys387_Ser388insPheLys)
NM_000284.4(PDHA1):c.1158dup (p.Lys387Ter)
NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs) rs606231186
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter) rs863224156
NM_000284.4(PDHA1):c.1163C>A (p.Ser388Ter)
NM_000284.4(PDHA1):c.1163_1164del (p.Ser388fs)
NM_000284.4(PDHA1):c.1167_1170del (p.Ser390fs) rs606231184
NM_000284.4(PDHA1):c.122_124del (p.Cys41_Asp42delinsTyr)
NM_000284.4(PDHA1):c.12_13insACTT (p.Leu5fs)
NM_000284.4(PDHA1):c.193_195delinsCAA (p.Tyr65Gln)
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.224A>C (p.Glu75Ala)
NM_000284.4(PDHA1):c.249dup (p.Gln84fs)
NM_000284.4(PDHA1):c.261T>G (p.Ile87Met)
NM_000284.4(PDHA1):c.262C>A (p.Arg88Ser)
NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys) rs2519339796
NM_000284.4(PDHA1):c.292-2A>G
NM_000284.4(PDHA1):c.302G>T (p.Cys101Phe)
NM_000284.4(PDHA1):c.328delinsAGA (p.Pro110fs)
NM_000284.4(PDHA1):c.329C>A (p.Pro110His)
NM_000284.4(PDHA1):c.363C>A (p.His121Gln)
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln) rs2063162114
NM_000284.4(PDHA1):c.394C>T (p.Arg132Ter)
NM_000284.4(PDHA1):c.409G>A (p.Glu137Lys) rs1555933663
NM_000284.4(PDHA1):c.412C>T (p.Leu138Phe)
NM_000284.4(PDHA1):c.419-2A>G
NM_000284.4(PDHA1):c.421C>T (p.Arg141Ter)
NM_000284.4(PDHA1):c.422G>T (p.Arg141Leu)
NM_000284.4(PDHA1):c.433_435del (p.Cys145del)
NM_000284.4(PDHA1):c.442G>A (p.Gly148Arg)
NM_000284.4(PDHA1):c.449G>A (p.Gly150Glu)
NM_000284.4(PDHA1):c.457A>G (p.Met153Val)
NM_000284.4(PDHA1):c.464T>C (p.Met155Thr)
NM_000284.4(PDHA1):c.479_481del (p.Phe160del)
NM_000284.4(PDHA1):c.484G>A (p.Gly162Arg)
NM_000284.4(PDHA1):c.498C>T (p.Ile166=) rs2147178249
NM_000284.4(PDHA1):c.511-30G>A
NM_000284.4(PDHA1):c.511G>C (p.Val171Leu)
NM_000284.4(PDHA1):c.513_759+2del
NM_000284.4(PDHA1):c.530T>C (p.Ile177Thr)
NM_000284.4(PDHA1):c.542G>A (p.Cys181Tyr)
NM_000284.4(PDHA1):c.562G>A (p.Glu188Lys)
NM_000284.4(PDHA1):c.584G>C (p.Gly195Ala)
NM_000284.4(PDHA1):c.592G>A (p.Ala198Thr)
NM_000284.4(PDHA1):c.595G>A (p.Ala199Thr)
NM_000284.4(PDHA1):c.606_609del (p.Gln203fs)
NM_000284.4(PDHA1):c.615C>A (p.Phe205Leu)
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys) rs1555934336
NM_000284.4(PDHA1):c.616G>C (p.Glu206Gln) rs1555934336
NM_000284.4(PDHA1):c.616G>T (p.Glu206Ter)
NM_000284.4(PDHA1):c.628A>G (p.Met210Val) rs794727843
NM_000284.4(PDHA1):c.629T>C (p.Met210Thr)
NM_000284.4(PDHA1):c.640T>C (p.Trp214Arg) rs886042089
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly) rs886042089
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys) rs1569191659
NM_000284.4(PDHA1):c.647T>C (p.Leu216Ser)
NM_000284.4(PDHA1):c.650C>G (p.Pro217Arg)
NM_000284.4(PDHA1):c.650C>T (p.Pro217Leu) rs1131691792
NM_000284.4(PDHA1):c.666_667del (p.Cys222_Glu223delinsTer)
NM_000284.4(PDHA1):c.687G>A (p.Met229Ile)
NM_000284.4(PDHA1):c.691A>G (p.Thr231Ala)
NM_000284.4(PDHA1):c.703A>G (p.Arg235Gly)
NM_000284.4(PDHA1):c.703_706del (p.Ala236fs)
NM_000284.4(PDHA1):c.705_706del (p.Arg235fs)
NM_000284.4(PDHA1):c.707C>A (p.Ala236Glu) rs863224145
NM_000284.4(PDHA1):c.721_724dup (p.Tyr242Ter) rs2063189611
NM_000284.4(PDHA1):c.724TAC[1] (p.Tyr243del)
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn) rs137853255
NM_000284.4(PDHA1):c.728A>C (p.Tyr243Ser)
NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys) rs2147180935
NM_000284.4(PDHA1):c.729C>A (p.Tyr243Ter)
NM_000284.4(PDHA1):c.730_731del (p.Lys244fs)
NM_000284.4(PDHA1):c.733A>G (p.Arg245Gly)
NM_000284.4(PDHA1):c.738C>T (p.Gly246=) rs1555934379
NM_000284.4(PDHA1):c.748C>A (p.Pro250Thr)
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) rs1602227679
NM_000284.4(PDHA1):c.757A>G (p.Arg253Gly)
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.760-2A>G
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala) rs137853253
NM_000284.4(PDHA1):c.778C>G (p.Leu260Val)
NM_000284.4(PDHA1):c.784G>T (p.Val262Phe) rs202166915
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter) rs137853259
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro) rs2063192428
NM_000284.4(PDHA1):c.831+1G>A
NM_000284.4(PDHA1):c.844A>G (p.Met282Val)
NM_000284.4(PDHA1):c.845T>G (p.Met282Arg)
NM_000284.4(PDHA1):c.847G>A (p.Glu283Lys)
NM_000284.4(PDHA1):c.853C>T (p.Gln285Ter)
NM_000284.4(PDHA1):c.853_865dup (p.Tyr289fs)
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs) rs1555934859
NM_000284.4(PDHA1):c.861_862insT (p.Arg288fs) rs606231190
NM_000284.4(PDHA1):c.862C>A (p.Arg288Ser)
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys) rs2063213272
NM_000284.4(PDHA1):c.863G>A (p.Arg288His) rs137853258
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr) rs2147184502
NM_000284.4(PDHA1):c.875A>T (p.His292Leu)
NM_000284.4(PDHA1):c.883A>G (p.Ser295Gly)
NM_000284.4(PDHA1):c.886G>A (p.Asp296Asn)
NM_000284.4(PDHA1):c.888C>G (p.Asp296Glu)
NM_000284.4(PDHA1):c.890dup (p.Gly298fs)
NM_000284.4(PDHA1):c.893G>A (p.Gly298Glu)
NM_000284.4(PDHA1):c.894_899+1dup
NM_000284.4(PDHA1):c.899+1G>C
NM_000284.4(PDHA1):c.900-1G>A
NM_000284.4(PDHA1):c.900-1_903dup
NM_000284.4(PDHA1):c.900_903dup (p.Arg302fs)
NM_000284.4(PDHA1):c.901_1004dup (p.Leu335_Lys336insThrValHisGluLysLysPheArgLysTer)
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.905G>A (p.Arg302His) rs1064794149
NM_000284.4(PDHA1):c.905G>T (p.Arg302Leu)
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter) rs863224146
NM_000284.4(PDHA1):c.913_929dup (p.Arg311fs)
NM_000284.4(PDHA1):c.917_924dup (p.Glu309fs)
NM_000284.4(PDHA1):c.924_930del (p.Ser312fs)
NM_000284.4(PDHA1):c.927dup (p.Val310fs)
NM_000284.4(PDHA1):c.929_932del (p.Val310fs) rs1555935216
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del) rs1555935223
NM_000284.4(PDHA1):c.932_935del (p.Arg311fs)
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer) rs1602231539
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs) rs137853251
NM_000284.4(PDHA1):c.937_942dup (p.Ser314_Asp315insLysSer)
NM_000284.4(PDHA1):c.938_940del (p.Lys313del) rs137853251
NM_000284.4(PDHA1):c.939_950del (p.Lys313_Ile317delinsAsn)
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) rs137853256
NM_000284.4(PDHA1):c.947C>T (p.Pro316Leu)
NM_000284.4(PDHA1):c.947dup (p.Ile317fs)
NM_000284.4(PDHA1):c.948_963dup (p.Asp322fs)
NM_000284.4(PDHA1):c.949_950del (p.Ile317fs)
NM_000284.4(PDHA1):c.949_952dup (p.Met318fs) rs2063232824
NM_000284.4(PDHA1):c.950_962dup (p.Lys321fs)
NM_000284.4(PDHA1):c.957_959dup (p.Leu320_Lys321insLeu)
NM_000284.4(PDHA1):c.960_1008+5dup
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup) rs2063233021
NM_000284.4(PDHA1):c.966_969del (p.Asp322fs)
NM_000284.4(PDHA1):c.968_980dup (p.Ser327fs)
NM_000284.4(PDHA1):c.982_985dup (p.Leu329fs)
NM_000284.4(PDHA1):c.983_986dup (p.Ala330fs)
NM_000284.4(PDHA1):c.985_998dup (p.Glu333fs) rs863224157
NM_000284.4(PDHA1):c.986_998dup (p.Glu333fs)

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