ClinVar Miner

List of variants studied for Pyruvate dehydrogenase complex deficiency by Natera, Inc.

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_000284.4(PDHA1):c.292-59C>T rs186854596 0.00238
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_000284.4(PDHA1):c.511-54G>A rs181933291 0.00184
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213 0.00170
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527 0.00077
NM_000925.4(PDHB):c.701-3C>T rs377063331 0.00051
NM_000925.4(PDHB):c.1029A>G (p.Ile343Met) rs149830613 0.00050
NM_000925.4(PDHB):c.97-5G>A rs200429396 0.00026
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) rs764996618 0.00011
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) rs767503319 0.00010
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809 0.00009
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007 0.00008
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_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215 0.00005
NM_000284.4(PDHA1):c.759+10C>G rs375488072 0.00005
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990 0.00005
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu) rs759331650 0.00004
NM_000925.4(PDHB):c.185A>G (p.Gln62Arg) rs777514148 0.00004
NM_000284.4(PDHA1):c.759+9A>G rs2643456 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_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382 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.*7C>G rs374476885 0.00001
NM_000925.4(PDHB):c.417T>C (p.Pro139=) rs762644804 0.00001
NM_000925.4(PDHB):c.826A>T (p.Met276Leu) rs372743787 0.00001
NM_000284.4(PDHA1):c.*110C>T rs709610
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.1172_*3del (p.Ser390_Ter391insTer) rs1555935577
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn) rs2063189797
NM_000284.4(PDHA1):c.759+26GGCCAA[2] rs11278403
NM_000925.4(PDHB):c.25C>A (p.Arg9=) rs747302644
NM_000925.4(PDHB):c.836T>C (p.Ile279Thr) rs1392622459
NM_000925.4(PDHB):c.847G>A (p.Val283Ile) rs2062893319

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