ClinVar Miner

List of variants reported as pathogenic for Pyruvate dehydrogenase E1-alpha deficiency by Invitae

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_18660114)_(19377781_?)del
NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs) rs1555935473
NM_000284.4(PDHA1):c.1043_1053del (p.Asp348fs)
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter)
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter) rs863224156
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.292-1G>A rs863224149
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) rs863224150
NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu)
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr) rs1569191372
NM_000284.4(PDHA1):c.58-1G>A rs1569189834
NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu)
NM_000284.4(PDHA1):c.653G>A (p.Cys218Tyr)
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile) rs2063189233
NM_000284.4(PDHA1):c.688_700del (p.Gly230fs)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.4(PDHA1):c.788G>A (p.Arg263Gln)
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys) rs2063213272
NM_000284.4(PDHA1):c.874_881dup (p.Met294fs) rs2063213396
NM_000284.4(PDHA1):c.902_907del (p.Tyr301_Thr303delinsSer) rs2147187199
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.905G>A (p.Arg302His) rs1064794149
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del) rs1555935223
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer) rs1602231539
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs) rs137853251
NM_000284.4(PDHA1):c.956_959dup (p.Lys321fs)

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