ClinVar Miner

List of variants reported as likely pathogenic for Pyruvate dehydrogenase E1-alpha deficiency

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001135024.2(PDHX):c.-48del rs1158194122 0.00003
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402 0.00001
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met) rs1272572107 0.00001
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly) rs2063233462 0.00001
NM_000284.4(PDHA1):c.1011_1034del rs2518507553
NM_000284.4(PDHA1):c.1014_1033dup (p.Glu345delinsValMetTrpLysTer)
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr) rs886044701
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro) rs1157736285
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter) rs2063246734
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val) rs2147189334
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1143_1145dup (p.Asn381_Gln382insHis) rs2518507983
NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter) rs2518508016
NM_000284.4(PDHA1):c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387fs) rs2518508076
NM_000284.4(PDHA1):c.133delinsATTTCTGGG (p.Arg45fs) rs2519339591
NM_000284.4(PDHA1):c.157dup (p.Thr53fs)
NM_000284.4(PDHA1):c.195dup (p.Arg66fs) rs2519339692
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.260T>C (p.Ile87Thr) rs2519339792
NM_000284.4(PDHA1):c.291+1_418+1dup
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp) rs2147176072
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp) rs2519341308
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.461A>G (p.His154Arg) rs1131692230
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile) rs2518497064
NM_000284.4(PDHA1):c.46del (p.Ser16fs) rs2147168716
NM_000284.4(PDHA1):c.490A>G (p.Asn164Asp)
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.511G>A (p.Val171Met) rs1602226867
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro) rs2518498635
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val) rs2147179733
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.57+2531T>C rs2063135938
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter) rs2147180742
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly) rs886042089
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His) rs2147180839
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu) rs2147180851
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.748C>A (p.Pro250Thr)
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) rs1602227679
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg) rs2518500437
NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu) rs2063192428
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs) rs1569191879
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs) rs1555934859
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys) rs2063213272
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr) rs2147184502
NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs) rs2147184540
NM_000284.4(PDHA1):c.899+2T>C rs2063213491
NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg) rs1555935223
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153

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