ClinVar Miner

List of variants reported as pathogenic for pyruvate dehydrogenase deficiency by OMIM

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000925.4(PDHB):c.426A>G (p.Ile142Met) rs151247980 0.00005
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 0.00003
NM_000925.4(PDHB):c.301A>G (p.Met101Val) rs747573712 0.00003
NM_000925.4(PDHB):c.106C>T (p.Arg36Cys) rs763842440 0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val) rs199983136 0.00002
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219 0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988 0.00001
NM_000108.5(DLD):c.875+1G>A rs1328820332 0.00001
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu) rs119103240 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998 0.00001
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter) rs113309941 0.00001
NM_006859.4(LIAS):c.542A>T (p.Asp181Val) rs1553934355 0.00001
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu) rs869312808 0.00001
NM_006859.4(LIAS):c.746G>A (p.Arg249His) rs144133667 0.00001
NG_013368.1:g.33923_80418delins[DQ831669.1:28435_34519]
NM_000108.5(DLD):c.1178T>C (p.Ile393Thr) rs121964991
NM_000108.5(DLD):c.140T>C (p.Ile47Thr) rs397514651
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1444A>G (p.Arg482Gly) rs397514650
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.5(DLD):c.214A>G (p.Lys72Glu) rs121964987
NM_000284.4(PDHA1):c.*79_*90dup rs1555935690
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.1133G>A (p.Arg378His) rs137853250
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs) rs606231186
NM_000284.4(PDHA1):c.1167_1170del (p.Ser390fs) rs606231184
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro) rs137853257
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe) rs121917898
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn) rs137853255
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.861_862insT (p.Arg288fs) rs606231190
NM_000284.4(PDHA1):c.863G>A (p.Arg288His) rs137853258
NM_000284.4(PDHA1):c.900-3_917dup rs606231188
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
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.991_1003dup (p.Leu335fs)
NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser) rs28933391
NM_000925.4(PDHB):c.302T>C (p.Met101Thr) rs2062921303
NM_000925.4(PDHB):c.310T>G (p.Leu104Val) rs201199166
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln) rs868788199
NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys) rs28935769
NM_000925.4(PDHB):c.494G>C (p.Trp165Ser) rs2062912705
NM_000925.4(PDHB):c.916T>C (p.Cys306Arg) rs145876456
NM_001931.5(DLAT):c.362_364del (p.Glu121del) rs2137679109
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_003477.2(PDHX):c.78_162del
NM_003477.3(PDHX):c.1024-1G>A rs724159830
NM_003477.3(PDHX):c.1183-3088_1247+760del
NM_003477.3(PDHX):c.620del (p.Pro207fs) rs724159979
NM_003477.3(PDHX):c.641+1G>A rs724159829
NM_003477.3(PDHX):c.88_91del (p.Lys30fs) rs724159828
NM_003477.3(PDHX):c.965_1023del (p.Asp322fs) rs1554989996
NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer) rs1553934069
NM_006859.4(LIAS):c.475_477delinsAAA (p.Glu159Lys) rs869320760
NM_018444.4(PDP1):c.277G>T (p.Glu93Ter) rs267606938
NM_018444.4(PDP1):c.500dup (p.Leu167fs) rs1810312864
NM_018444.4(PDP1):c.851_853del (p.Leu284del) rs1554572756

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