ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 130
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402 0.00001
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly) rs2063233462 0.00001
NM_000284.3(PDHA1):c.900_932dup
NM_000284.4(PDHA1):c.1011_1040dup (p.Glu347_Asp348insIleAspValGluValArgLysGluIleGlu)
NM_000284.4(PDHA1):c.1040_1063dup (p.Thr354_Ala355insGluAspAlaAlaGlnPheAlaThr)
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr) rs886044701
NM_000284.4(PDHA1):c.1052A>C (p.Gln351Pro)
NM_000284.4(PDHA1):c.1057G>A (p.Ala353Thr)
NM_000284.4(PDHA1):c.1057G>C (p.Ala353Pro)
NM_000284.4(PDHA1):c.1063_1068del (p.Ala355_Asp356del)
NM_000284.4(PDHA1):c.1071_1088dup (p.Glu362_Glu363insAspGluProProLeuGlu)
NM_000284.4(PDHA1):c.1072G>A (p.Glu358Lys) rs2147189180
NM_000284.4(PDHA1):c.1083_1124del (p.Leu361_Pro374del)
NM_000284.4(PDHA1):c.1083_1124dup (p.Pro374_Phe375insLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProPro)
NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg) rs2518507804
NM_000284.4(PDHA1):c.1095_1118dup (p.Pro373_Pro374insTyrHisIleTyrSerSerAspPro)
NM_000284.4(PDHA1):c.1100A>G (p.His367Arg)
NM_000284.4(PDHA1):c.1101_1154dup (p.Ile384_Lys385insAsnIleTyrSerSerAspProProPheGluValArgGlyAlaAsnGlnTrpIle)
NM_000284.4(PDHA1):c.1105T>C (p.Tyr369His)
NM_000284.4(PDHA1):c.1116_1154dup (p.Ile384_Lys385insAsnProProPheGluValArgGlyAlaAsnGlnTrpIle)
NM_000284.4(PDHA1):c.1121_1159dup (p.Phe386_Lys387insThrPheGluValArgGlyAlaAsnGlnTrpIleLysPhe)
NM_000284.4(PDHA1):c.1126_1131dup (p.Val377_Arg378insGluVal)
NM_000284.4(PDHA1):c.1133G>T (p.Arg378Leu) rs137853250
NM_000284.4(PDHA1):c.1153_1155dup (p.Lys385_Phe386insLys)
NM_000284.4(PDHA1):c.1162T>C (p.Ser388Pro)
NM_000284.4(PDHA1):c.131A>G (p.His44Arg)
NM_000284.4(PDHA1):c.148C>T (p.Pro50Ser)
NM_000284.4(PDHA1):c.149C>G (p.Pro50Arg)
NM_000284.4(PDHA1):c.194A>C (p.Tyr65Ser) rs2519339682
NM_000284.4(PDHA1):c.212T>C (p.Val71Ala)
NM_000284.4(PDHA1):c.224A>G (p.Glu75Gly)
NM_000284.4(PDHA1):c.224A>T (p.Glu75Val)
NM_000284.4(PDHA1):c.225G>T (p.Glu75Asp) rs1569190079
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.269T>C (p.Phe90Ser)
NM_000284.4(PDHA1):c.272G>C (p.Cys91Ser)
NM_000284.4(PDHA1):c.291+5G>A
NM_000284.4(PDHA1):c.291G>A (p.Gln97=)
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro) rs137853257
NM_000284.4(PDHA1):c.301T>C (p.Cys101Arg)
NM_000284.4(PDHA1):c.332C>T (p.Thr111Ile)
NM_000284.4(PDHA1):c.335A>G (p.Asp112Gly)
NM_000284.4(PDHA1):c.337C>G (p.His113Asp)
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp) rs2147176072
NM_000284.4(PDHA1):c.364G>A (p.Gly122Ser) rs1555933643
NM_000284.4(PDHA1):c.364G>C (p.Gly122Arg)
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp) rs2519341308
NM_000284.4(PDHA1):c.407C>T (p.Ala136Val)
NM_000284.4(PDHA1):c.409G>C (p.Glu137Gln)
NM_000284.4(PDHA1):c.410A>G (p.Glu137Gly)
NM_000284.4(PDHA1):c.416C>G (p.Thr139Arg)
NM_000284.4(PDHA1):c.419-17_419-14del
NM_000284.4(PDHA1):c.421C>G (p.Arg141Gly)
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.426AGG[1] (p.Gly144del)
NM_000284.4(PDHA1):c.430G>A (p.Gly144Ser)
NM_000284.4(PDHA1):c.430G>C (p.Gly144Arg)
NM_000284.4(PDHA1):c.431G>A (p.Gly144Asp)
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.4(PDHA1):c.451G>A (p.Gly151Arg) rs863224151
NM_000284.4(PDHA1):c.454T>A (p.Ser152Thr)
NM_000284.4(PDHA1):c.454T>C (p.Ser152Pro)
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile) rs2518497064
NM_000284.4(PDHA1):c.478_479inv (p.Phe160Asn)
NM_000284.4(PDHA1):c.481_483del (p.Tyr161del)
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.495C>T (p.Gly165=)
NM_000284.4(PDHA1):c.499G>A (p.Val167Met) rs2063174067
NM_000284.4(PDHA1):c.499G>T (p.Val167Leu)
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) rs863224150
NM_000284.4(PDHA1):c.511-414_899+584del
NM_000284.4(PDHA1):c.511G>A (p.Val171Met) rs1602226867
NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu) rs2518498625
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr) rs1569191372
NM_000284.4(PDHA1):c.523G>C (p.Ala175Pro)
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.548A>G (p.Tyr183Cys) rs2147179754
NM_000284.4(PDHA1):c.555A>G (p.Gly185=)
NM_000284.4(PDHA1):c.586G>A (p.Asp196Asn)
NM_000284.4(PDHA1):c.593C>T (p.Ala198Val)
NM_000284.4(PDHA1):c.599A>C (p.Asn200Thr)
NM_000284.4(PDHA1):c.604-10C>G
NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu) rs2518499632
NM_000284.4(PDHA1):c.619G>C (p.Ala207Pro)
NM_000284.4(PDHA1):c.626A>G (p.Asn209Ser)
NM_000284.4(PDHA1):c.643A>C (p.Lys215Gln)
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe) rs121917898
NM_000284.4(PDHA1):c.649C>A (p.Pro217Thr)
NM_000284.4(PDHA1):c.649C>G (p.Pro217Ala)
NM_000284.4(PDHA1):c.677G>A (p.Arg226His)
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His) rs2147180839
NM_000284.4(PDHA1):c.680A>G (p.Tyr227Cys)
NM_000284.4(PDHA1):c.688G>A (p.Gly230Arg)
NM_000284.4(PDHA1):c.692C>A (p.Thr231Lys)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.754C>G (p.Leu252Val) rs1555934383
NM_000284.4(PDHA1):c.762_831+2del
NM_000284.4(PDHA1):c.784G>C (p.Val262Leu)
NM_000284.4(PDHA1):c.788G>A (p.Arg263Gln) rs2063192428
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr) rs2063192867
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) rs1057521993
NM_000284.4(PDHA1):c.832G>C (p.Gly278Arg)
NM_000284.4(PDHA1):c.833G>A (p.Gly278Glu)
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) rs1602229682
NM_000284.4(PDHA1):c.845_846insTCT (p.Met282delinsIleLeu)
NM_000284.4(PDHA1):c.863G>T (p.Arg288Leu)
NM_000284.4(PDHA1):c.869A>C (p.His290Pro)
NM_000284.4(PDHA1):c.871G>A (p.Gly291Arg) rs2147184517
NM_000284.4(PDHA1):c.892G>A (p.Gly298Arg)
NM_000284.4(PDHA1):c.899+3_988del
NM_000284.4(PDHA1):c.900-12_920dup
NM_000284.4(PDHA1):c.900-15_906dup
NM_000284.4(PDHA1):c.900-3_917dup rs606231188
NM_000284.4(PDHA1):c.900-3_922dup
NM_000284.4(PDHA1):c.900-41_900-23del
NM_000284.4(PDHA1):c.900-6_958dup
NM_000284.4(PDHA1):c.905_927inv (p.Arg302_Glu309delinsLeuProGluPheLeuLeuValTyr)
NM_000284.4(PDHA1):c.914_915insGATAGTTACCGTACACGAGAA (p.Glu305_Glu306insIleValThrValHisGluLys)
NM_000284.4(PDHA1):c.924G>T (p.Gln308His)
NM_000284.4(PDHA1):c.931A>G (p.Arg311Gly)
NM_000284.4(PDHA1):c.933_989dup (p.Ser331_Val332insLysSerAspProIleMetLeuLeuLysAspArgMetValAsnSerAsnLeuAlaSer)
NM_000284.4(PDHA1):c.940A>T (p.Ser314Cys)
NM_000284.4(PDHA1):c.968_976del (p.Arg323_Val325del)
NM_000284.4(PDHA1):c.969_1004dup (p.Leu335_Lys336insMetValAsnSerAsnLeuAlaSerValGluGluLeu)
NM_000284.4(PDHA1):c.978_1004dup (p.Leu335_Lys336insSerAsnLeuAlaSerValGluGluLeu)
NM_000284.4(PDHA1):c.986T>G (p.Leu329Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.