ClinVar Miner

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

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Total variants: 61
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HGVS dbSNP
NM_000284.4(PDHA1):c.*1013C>A
NM_000284.4(PDHA1):c.*1059G>A
NM_000284.4(PDHA1):c.*110C>T
NM_000284.4(PDHA1):c.*1208A>C
NM_000284.4(PDHA1):c.*1345A>G
NM_000284.4(PDHA1):c.*1377G>A
NM_000284.4(PDHA1):c.*1394C>T
NM_000284.4(PDHA1):c.*1450C>T
NM_000284.4(PDHA1):c.*1563C>G
NM_000284.4(PDHA1):c.*1598G>C
NM_000284.4(PDHA1):c.*1682T>C
NM_000284.4(PDHA1):c.*1869G>C rs15943
NM_000284.4(PDHA1):c.*319G>T
NM_000284.4(PDHA1):c.*322G>A
NM_000284.4(PDHA1):c.*392G>A
NM_000284.4(PDHA1):c.*3_*13del (p.Ter391=)
NM_000284.4(PDHA1):c.*525C>G
NM_000284.4(PDHA1):c.*614G>T
NM_000284.4(PDHA1):c.*707G>A
NM_000284.4(PDHA1):c.*728C>T
NM_000284.4(PDHA1):c.*844A>G
NM_000284.4(PDHA1):c.*857A>G
NM_000284.4(PDHA1):c.*864G>A
NM_000284.4(PDHA1):c.-88G>A
NM_000284.4(PDHA1):c.-98C>T
NM_000284.4(PDHA1):c.1009-9A>C
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=)
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809
NM_000284.4(PDHA1):c.1170T>C (p.Ser390=)
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.217C>A (p.Arg73=)
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838
NM_000284.4(PDHA1):c.291+12G>A
NM_000284.4(PDHA1):c.292-5C>T rs191666624
NM_000284.4(PDHA1):c.327C>T (p.Asn109=)
NM_000284.4(PDHA1):c.363C>T (p.His121=) rs183170654
NM_000284.4(PDHA1):c.390C>T (p.Ser130=)
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886
NM_000284.4(PDHA1):c.418+8G>A
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)
NM_000284.4(PDHA1):c.604-10C>T rs201754585
NM_000284.4(PDHA1):c.604-15C>T rs13440874
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215
NM_000284.4(PDHA1):c.69G>A (p.Val23=)
NM_000284.4(PDHA1):c.708G>A (p.Ala236=)
NM_000284.4(PDHA1):c.759+10C>G rs375488072
NM_000284.4(PDHA1):c.759+26GGCCAA[2]
NM_000284.4(PDHA1):c.759+9A>G
NM_000284.4(PDHA1):c.760-15C>A rs7058209
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213
NM_000284.4(PDHA1):c.831+15C>T rs190157093
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067

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