ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E1-alpha deficiency by Illumina Laboratory Services, Illumina

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Total variants: 55
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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.*1394C>T rs55856360 0.22991
NM_000284.4(PDHA1):c.760-15C>A rs7058209 0.22904
NM_000284.4(PDHA1):c.*1059G>A rs15816 0.22867
NM_000284.4(PDHA1):c.*844A>G rs1042453 0.22833
NM_000284.4(PDHA1):c.*728C>T rs1042452 0.22767
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.*1377G>A rs56039350 0.20892
NM_000284.4(PDHA1):c.*614G>T rs5955761 0.06313
NM_000284.4(PDHA1):c.*1598G>C rs11094770 0.06012
NM_000284.4(PDHA1):c.-88G>A rs5955751 0.03606
NM_000284.4(PDHA1):c.*392G>A rs56318063 0.02182
NM_000284.4(PDHA1):c.*1563C>G rs7883708 0.01025
NM_000284.4(PDHA1):c.*1682T>C rs55744630 0.00998
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_000284.4(PDHA1):c.*1869G>C rs15943 0.00434
NM_000284.4(PDHA1):c.831+15C>T rs190157093 0.00379
NM_000284.4(PDHA1):c.*1208A>C rs369499936 0.00252
NM_000284.4(PDHA1):c.*857A>G rs182836908 0.00208
NM_000284.4(PDHA1):c.*864G>A rs192450087 0.00203
NM_000284.4(PDHA1):c.-98C>T rs192773464 0.00187
NM_000284.4(PDHA1):c.*549A>G rs187525386 0.00126
NM_000284.4(PDHA1):c.*575T>C rs191995452 0.00114
NM_000284.4(PDHA1):c.*1297G>A rs778678656 0.00112
NM_000284.4(PDHA1):c.*1345A>G rs193253848 0.00110
NM_000284.4(PDHA1):c.*349A>G rs1013526559 0.00092
NM_000284.4(PDHA1):c.*432C>T rs754719295 0.00068
NM_000284.4(PDHA1):c.*321C>T rs886566327 0.00061
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.*729G>A rs376808450 0.00033
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000284.4(PDHA1):c.-79C>T rs942040058 0.00024
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000284.4(PDHA1):c.*1306G>A rs745566169 0.00018
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
NM_000284.4(PDHA1):c.*1458C>T rs923765752 0.00016
NM_000284.4(PDHA1):c.*707G>A rs150945967 0.00012
NM_000284.4(PDHA1):c.*1450C>T rs747229060 0.00011
NM_000284.4(PDHA1):c.*1347C>T rs1241045421 0.00006
NM_000284.4(PDHA1):c.660C>T (p.Phe220=) rs745607005 0.00005
NM_000284.4(PDHA1):c.291+12G>A rs755244308 0.00004
NM_000284.4(PDHA1):c.69G>A (p.Val23=) rs770667770 0.00003
NM_000284.4(PDHA1):c.*1376C>T rs963546680 0.00001
NM_000284.4(PDHA1):c.*1779A>T rs758279534 0.00001
NM_000284.4(PDHA1):c.*1926G>C rs778062708 0.00001
NM_000284.4(PDHA1):c.*1013C>A rs1042456
NM_000284.4(PDHA1):c.*110C>T rs709610
NM_000284.4(PDHA1):c.*1624T>C rs2063283398
NM_000284.4(PDHA1):c.*198G>A rs1003909173
NM_000284.4(PDHA1):c.*525C>G rs778207227
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402

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