ClinVar Miner

List of variants reported as uncertain significance for Pyruvate dehydrogenase complex deficiency

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000108.5(DLD):c.*1145A>T rs143750422 0.00638
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000108.5(DLD):c.*1422C>T rs568479120 0.00265
NM_000108.5(DLD):c.*1640A>G rs148148357 0.00209
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_000108.5(DLD):c.*1307C>T rs568807016 0.00052
NM_000925.4(PDHB):c.701-3C>T rs377063331 0.00051
NM_000925.4(PDHB):c.1029A>G (p.Ile343Met) rs149830613 0.00050
NM_000108.5(DLD):c.*1791_*1794del rs760145994 0.00046
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_000108.5(DLD):c.*1857A>C rs774099916 0.00040
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427 0.00039
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000925.4(PDHB):c.97-5G>A rs200429396 0.00026
NM_000108.5(DLD):c.*1736T>C rs190655078 0.00025
NM_000108.5(DLD):c.*845G>A rs750426584 0.00024
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782 0.00022
NM_000108.5(DLD):c.*1092C>T rs546777301 0.00020
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745 0.00016
NM_000108.5(DLD):c.*739G>A rs181103944 0.00014
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951 0.00014
NM_000108.5(DLD):c.-8G>T rs372155330 0.00013
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) rs764996618 0.00011
NM_000108.5(DLD):c.*1877A>G rs182010485 0.00009
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007 0.00008
NM_000108.5(DLD):c.*1505C>T rs1053262850 0.00007
NM_000925.4(PDHB):c.-4C>T rs778465584 0.00007
NM_000925.4(PDHB):c.477A>C (p.Ser159=) rs569429778 0.00007
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914 0.00006
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990 0.00005
NM_000108.5(DLD):c.*1876G>A rs142001971 0.00004
NM_000925.4(PDHB):c.185A>G (p.Gln62Arg) rs777514148 0.00004
NM_000108.5(DLD):c.*355A>G rs886061910 0.00002
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119 0.00002
NM_000108.5(DLD):c.226C>T (p.Leu76Phe) rs967089304 0.00002
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027 0.00002
NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg) rs373275701 0.00002
NM_000925.4(PDHB):c.1002T>C (p.Tyr334=) rs755616546 0.00002
NM_000925.4(PDHB):c.841G>T (p.Ala281Ser) rs148957406 0.00002
NM_000108.5(DLD):c.*1401G>T rs1266926415 0.00001
NM_000108.5(DLD):c.*1724C>G rs886061913 0.00001
NM_000108.5(DLD):c.*225C>T rs553824101 0.00001
NM_000108.5(DLD):c.*394A>G rs1246423607 0.00001
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) rs766396602 0.00001
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846 0.00001
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) rs886061907 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_000284.4(PDHA1):c.661A>G (p.Ile221Val) rs1410654779 0.00001
NM_000284.4(PDHA1):c.82C>T (p.Arg28Cys) rs759062849 0.00001
NM_000284.4(PDHA1):c.900-2dup rs779132922 0.00001
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile) rs755945768 0.00001
NM_000925.4(PDHB):c.*199T>G rs886058777 0.00001
NM_000925.4(PDHB):c.*7C>G rs374476885 0.00001
NM_000925.4(PDHB):c.826A>T (p.Met276Leu) rs372743787 0.00001
NM_000108.5(DLD):c.*1027T>G rs372098056
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1231A>G rs2032385167
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*374G>T rs576270082
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*498T>G rs886061911
NM_000108.5(DLD):c.*898C>T rs2032373871
NM_000108.5(DLD):c.-10C>T rs1269120569
NM_000108.5(DLD):c.1313T>C (p.Met438Thr) rs2032312825
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.30C>A (p.Ser10=) rs779166996
NM_000108.5(DLD):c.520A>G (p.Ile174Val) rs2031981415
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg) rs1244401639
NM_000284.4(PDHA1):c.1142A>G (p.Asn381Ser) rs2063247814
NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn) rs2063189797
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) rs1602229682
NM_000925.4(PDHB):c.*366_*367insAA rs886058775
NM_000925.4(PDHB):c.25C>A (p.Arg9=) rs747302644
NM_000925.4(PDHB):c.793-19_793-14del rs759146810
NM_000925.4(PDHB):c.836T>C (p.Ile279Thr) rs1392622459
NM_000925.4(PDHB):c.847G>A (p.Val283Ile) rs2062893319
NM_003477.2(PDHX):c.-271G>T rs780153979

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