ClinVar Miner

List of variants in gene PDHA1 reported as pathogenic for Pyruvate dehydrogenase E1-alpha deficiency

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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_000284.4(PDHA1):c.*79_*90dup rs1555935690
NM_000284.4(PDHA1):c.1009-16_1010del rs2147188973
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs) rs1569194036
NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs) rs1555935473
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs) rs2063245185
NM_000284.4(PDHA1):c.1043_1053del (p.Asp348fs)
NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs) rs606231187
NM_000284.4(PDHA1):c.1074_1109dup (p.Pro359_Ser370dup) rs606231191
NM_000284.4(PDHA1):c.1100A>T (p.His367Leu) rs1131691584
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.1133_1140del (p.Arg378fs) rs2147189315
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter)
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.1167_1170del (p.Ser390fs) rs606231184
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys)
NM_000284.4(PDHA1):c.292-1G>A rs863224149
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro) rs137853257
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln) rs2063162114
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) rs1569190962
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.498C>T (p.Ile166=) rs2147178249
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) rs863224150
NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu)
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr) rs1569191372
NM_000284.4(PDHA1):c.58-1G>A rs1569189834
NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu)
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys)
NM_000284.4(PDHA1):c.628A>G (p.Met210Val) rs794727843
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys) rs1569191659
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe) rs121917898
NM_000284.4(PDHA1):c.653G>A (p.Cys218Tyr)
NM_000284.4(PDHA1):c.66_67del (p.Arg22fs)
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile) rs2063189233
NM_000284.4(PDHA1):c.688_700del (p.Gly230fs)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn) rs137853255
NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys) rs2147180935
NM_000284.4(PDHA1):c.738C>T (p.Gly246=) rs1555934379
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala) rs137853253
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>A (p.Arg263Gln)
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro) rs2063192428
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs) rs1602228017
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) rs1057521993
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>T (p.Arg288Cys) rs2063213272
NM_000284.4(PDHA1):c.863G>A (p.Arg288His) rs137853258
NM_000284.4(PDHA1):c.874_881dup (p.Met294fs) rs2063213396
NM_000284.4(PDHA1):c.899+2T>A rs2063213491
NM_000284.4(PDHA1):c.900-3_917dup rs606231188
NM_000284.4(PDHA1):c.902_907del (p.Tyr301_Thr303delinsSer) rs2147187199
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.910C>T (p.Arg304Ter)
NM_000284.4(PDHA1):c.918_927dup (p.Val310fs) rs2063232292
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del) rs1555935223
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.938_940del (p.Lys313del) rs137853251
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) rs137853256
NM_000284.4(PDHA1):c.949_952dup (p.Met318fs) rs2063232824
NM_000284.4(PDHA1):c.956_959dup (p.Lys321fs)
NM_000284.4(PDHA1):c.991_1003dup (p.Leu335fs)

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