ClinVar Miner

List of variants in gene PDHA1 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000284.3(PDHA1):c.1011_1034del
NM_000284.4(PDHA1):c.1008+1_1008+27del rs863224155
NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs) rs1555935473
NM_000284.4(PDHA1):c.1100A>C (p.His367Pro) rs1131691584
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter) rs863224156
NM_000284.4(PDHA1):c.1162_*1del (p.Ser388fs) rs2147189414
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys)
NM_000284.4(PDHA1):c.292-1G>A rs863224149
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) rs1569190962
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.498C>T (p.Ile166=) rs2147178249
NM_000284.4(PDHA1):c.499G>A (p.Val167Met) rs2063174067
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) rs863224150
NM_000284.4(PDHA1):c.650C>T (p.Pro217Leu) rs1131691792
NM_000284.4(PDHA1):c.711_738dup (p.Asp247delinsSerGlnHisTer) rs1602227631
NM_000284.4(PDHA1):c.724_727dup (p.Tyr243fs) rs1602227643
NM_000284.4(PDHA1):c.760-1G>T rs886039690
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter) rs137853259
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro) rs2063192428
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs) rs1555934859
NM_000284.4(PDHA1):c.900-1_902dup rs2147187186
NM_000284.4(PDHA1):c.900-2A>G rs1555935197
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.910C>T (p.Arg304Ter)
NM_000284.4(PDHA1):c.921_932dup (p.Val310_Arg311insSerGlnGluVal) rs1057518173
NM_000284.4(PDHA1):c.929_932del (p.Val310fs) rs1555935216
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs) rs137853251
NM_000284.4(PDHA1):c.954dup (p.Leu319fs) rs886041793
NM_000284.4(PDHA1):c.985_998dup (p.Glu333fs) rs863224157

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