ClinVar Miner

List of variants in gene PDHA1 reported as benign for Pyruvate dehydrogenase E1-alpha deficiency

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Total variants: 67
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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.760-15C>A rs7058209 0.22904
NM_000284.4(PDHA1):c.*319G>T rs1042449 0.22677
NM_000284.4(PDHA1):c.*322G>A rs1042450 0.22629
NM_000284.4(PDHA1):c.-88G>A rs5955751 0.03606
NM_000284.4(PDHA1):c.604-15C>T rs13440874 0.03269
NM_000284.4(PDHA1):c.*392G>A rs56318063 0.02182
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_000284.4(PDHA1):c.831+15C>T rs190157093 0.00379
NM_000284.4(PDHA1):c.510+12C>T rs201869402 0.00312
NM_000284.4(PDHA1):c.-98C>T rs192773464 0.00187
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213 0.00170
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067 0.00124
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527 0.00077
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_000284.4(PDHA1):c.604-10C>T rs201754585 0.00058
NM_000284.4(PDHA1):c.899+12G>A rs376730441 0.00036
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838 0.00032
NM_000284.4(PDHA1):c.117+19T>A rs373859720 0.00026
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000284.4(PDHA1):c.1170T>C (p.Ser390=) rs369973813 0.00023
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000284.4(PDHA1):c.899+18G>A rs370785632 0.00022
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
NM_000284.4(PDHA1):c.1008+7T>G rs768994523 0.00014
NM_000284.4(PDHA1):c.292-5C>T rs191666624 0.00013
NM_000284.4(PDHA1):c.363C>T (p.His121=) rs183170654 0.00012
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886 0.00012
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809 0.00009
NM_000284.4(PDHA1):c.118-17A>G rs749601456 0.00009
NM_000284.4(PDHA1):c.418+8G>A rs779583146 0.00008
NM_000284.4(PDHA1):c.708G>A (p.Ala236=) rs750307419 0.00008
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007 0.00008
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=) rs773338429 0.00007
NM_000284.4(PDHA1):c.217C>A (p.Arg73=) rs761538559 0.00007
NM_000284.4(PDHA1):c.1009-9A>C rs372177460 0.00005
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215 0.00005
NM_000284.4(PDHA1):c.759+10C>G rs375488072 0.00005
NM_000284.4(PDHA1):c.291+12G>A rs755244308 0.00004
NM_000284.4(PDHA1):c.390C>T (p.Ser130=) rs756138817 0.00003
NM_000284.4(PDHA1):c.69G>A (p.Val23=) rs770667770 0.00003
NM_000284.4(PDHA1):c.327C>T (p.Asn109=) rs772943333 0.00002
NM_000284.4(PDHA1):c.759+9A>G rs2643456 0.00002
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382 0.00001
NM_000284.4(PDHA1):c.1065C>T (p.Ala355=) rs749696135 0.00001
NM_000284.4(PDHA1):c.292-11C>T rs776535833 0.00001
NM_000284.4(PDHA1):c.522C>T (p.Gly174=) rs769308417 0.00001
NM_000284.4(PDHA1):c.899+10T>C rs1471723235 0.00001
NM_000284.4(PDHA1):c.*110C>T rs709610
NM_000284.4(PDHA1):c.*3_*13del (p.Ter391=) rs764728647
NM_000284.4(PDHA1):c.1009-17_1009-14dup rs1569193999
NM_000284.4(PDHA1):c.1009-31_1009-15del
NM_000284.4(PDHA1):c.1157_*28dup (p.Phe386_Ter391=)
NM_000284.4(PDHA1):c.117+17T>G
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.58-18A>C
NM_000284.4(PDHA1):c.604-14G>A rs377192586
NM_000284.4(PDHA1):c.759+18GGGGCC[3]
NM_000284.4(PDHA1):c.759+21dup
NM_000284.4(PDHA1):c.759+26GGCCAA[2] rs11278403
NM_000284.4(PDHA1):c.759+26GGCCAA[4] rs11278403
NM_000284.4(PDHA1):c.759+34_759+45del rs11278403
NM_000284.4(PDHA1):c.760-14_760-13del
NM_000284.4(PDHA1):c.760-14dup
NM_000284.4(PDHA1):c.832-14C>T
NM_000284.4(PDHA1):c.900-18_900-14dup
NM_000284.4(PDHA1):c.900-8C>G

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