ClinVar Miner

List of variants in gene PDHA1 reported by GeneDx

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Gene type:
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Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_000284.3(PDHA1):c.-195G>A rs5955750 0.24345
NM_000284.4(PDHA1):c.511-178G>C rs66727455 0.22935
NM_000284.4(PDHA1):c.760-15C>A rs7058209 0.22904
NM_000284.4(PDHA1):c.1009-211T>C rs5955549 0.22866
NM_000284.4(PDHA1):c.419-249T>C rs5955756 0.22833
NM_000284.4(PDHA1):c.510+236G>T rs7886893 0.22831
NM_000284.4(PDHA1):c.1009-23T>C rs5955760 0.22827
NM_000284.4(PDHA1):c.832-60C>T rs7059233 0.22800
NM_000284.4(PDHA1):c.831+211C>T rs12353763 0.22791
NM_000284.4(PDHA1):c.57+2432C>T rs7883320 0.22735
NC_000023.11:g.19343733G>T rs7059095 0.19971
NM_000284.4(PDHA1):c.900-339C>T rs5955759 0.07082
NM_000284.4(PDHA1):c.832-211A>G rs7885618 0.04727
NM_000284.4(PDHA1):c.291+52C>T rs7890070 0.04611
NM_000284.4(PDHA1):c.57+2591A>G rs12387382 0.03768
NM_000284.4(PDHA1):c.-88G>A rs5955751 0.03606
NM_000284.4(PDHA1):c.58-2558T>A rs12392955 0.03581
NM_000284.4(PDHA1):c.604-15C>T rs13440874 0.03269
NM_000284.4(PDHA1):c.58-84C>T rs140575255 0.02586
NM_000284.4(PDHA1):c.57+2482G>A rs145749914 0.02089
NM_000284.4(PDHA1):c.118-76G>A rs144420560 0.02057
NM_000284.4(PDHA1):c.58-260A>C rs151275584 0.02049
NM_000284.4(PDHA1):c.900-265T>C rs141480332 0.01556
NM_000284.4(PDHA1):c.57+289T>C rs73453457 0.01307
NC_000023.11:g.19343829T>C rs187972638 0.01175
NM_000284.4(PDHA1):c.292-304T>A rs7055605 0.01113
NM_000284.4(PDHA1):c.510+187C>T rs139638187 0.01098
NM_000284.4(PDHA1):c.900-283G>A rs138892389 0.00911
NM_000284.4(PDHA1):c.900-163C>T rs150842150 0.00860
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_000284.4(PDHA1):c.832-118A>G rs147808168 0.00691
NM_000284.4(PDHA1):c.1008+51C>T rs41309591 0.00544
NM_000284.4(PDHA1):c.57+2160G>A rs149807759 0.00422
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.291+74C>T rs73453465 0.00277
NM_000284.4(PDHA1):c.292-59C>T rs186854596 0.00238
NM_000284.4(PDHA1):c.511-54G>A rs181933291 0.00184
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.899+18G>A rs370785632 0.00022
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
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.1159A>C (p.Lys387Gln) rs201156613 0.00009
NM_000284.4(PDHA1):c.118-17A>G rs749601456 0.00009
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215 0.00005
NM_000284.4(PDHA1):c.31G>A (p.Val11Met) rs756973583 0.00004
NM_000284.4(PDHA1):c.-23G>C rs773557576 0.00002
NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg) rs373275701 0.00002
NM_000284.4(PDHA1):c.82C>T (p.Arg28Cys) rs759062849 0.00001
NM_000284.4(PDHA1):c.900-10C>A rs370163447 0.00001
NM_000284.4(PDHA1):c.900-17C>T rs1196796985 0.00001
NC_000023.11:g.19343714del rs11286289
NM_000284.3(PDHA1):c.1011_1034del
NM_000284.4(PDHA1):c.*10_*12del rs752082232
NM_000284.4(PDHA1):c.*110C>T rs709610
NM_000284.4(PDHA1):c.*291_*297del rs200632554
NM_000284.4(PDHA1):c.1008+117ATAGTTCC[4] rs761758246
NM_000284.4(PDHA1):c.1008+1_1008+27del rs863224155
NM_000284.4(PDHA1):c.1025T>G (p.Val342Gly) rs1057523018
NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs) rs1555935473
NM_000284.4(PDHA1):c.1046C>T (p.Ala349Val) rs1131691952
NM_000284.4(PDHA1):c.1063G>A (p.Ala355Thr) rs886878369
NM_000284.4(PDHA1):c.1069C>G (p.Pro357Ala) rs2147189166
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.1172_*3del (p.Ser390_Ter391insTer) rs1555935577
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.147C>T (p.Gly49=) rs1555933449
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys)
NM_000284.4(PDHA1):c.263G>A (p.Arg88His) rs2147174790
NM_000284.4(PDHA1):c.292-1G>A rs863224149
NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro) rs794727621
NM_000284.4(PDHA1):c.364G>A (p.Gly122Ser) rs1555933643
NM_000284.4(PDHA1):c.409G>A (p.Glu137Lys) rs1555933663
NM_000284.4(PDHA1):c.425A>C (p.Lys142Thr)
NM_000284.4(PDHA1):c.447A>G (p.Lys149=)
NM_000284.4(PDHA1):c.456G>A (p.Ser152=) rs1358837850
NM_000284.4(PDHA1):c.463A>T (p.Met155Leu) rs863224152
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.517C>G (p.Leu173Val)
NM_000284.4(PDHA1):c.523G>T (p.Ala175Ser)
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val) rs2147179733
NM_000284.4(PDHA1):c.548A>G (p.Tyr183Cys) rs2147179754
NM_000284.4(PDHA1):c.559G>C (p.Asp187His) rs2147179768
NM_000284.4(PDHA1):c.57+2410dup rs754393427
NM_000284.4(PDHA1):c.604-14G>A rs377192586
NM_000284.4(PDHA1):c.642G>A (p.Trp214Ter) rs1569191659
NM_000284.4(PDHA1):c.643A>G (p.Lys215Glu)
NM_000284.4(PDHA1):c.650C>T (p.Pro217Leu) rs1131691792
NM_000284.4(PDHA1):c.67G>A (p.Val23Met)
NM_000284.4(PDHA1):c.707C>A (p.Ala236Glu) rs863224145
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.738C>T (p.Gly246=) rs1555934379
NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn) rs2063189797
NM_000284.4(PDHA1):c.746T>G (p.Ile249Ser) rs1064793225
NM_000284.4(PDHA1):c.754C>G (p.Leu252Val) rs1555934383
NM_000284.4(PDHA1):c.759+26GGCCAA[2] rs11278403
NM_000284.4(PDHA1):c.759+26GGCCAA[4] rs11278403
NM_000284.4(PDHA1):c.760-1G>T rs886039690
NM_000284.4(PDHA1):c.760-3C>G
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.790G>A (p.Glu264Lys)
NM_000284.4(PDHA1):c.831+92C>G rs7058518
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) rs1057521993
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs) rs1555934859
NM_000284.4(PDHA1):c.861C>T (p.Tyr287=) rs1057521179
NM_000284.4(PDHA1):c.871G>A (p.Gly291Arg) rs2147184517
NM_000284.4(PDHA1):c.900-1_902dup rs2147187186
NM_000284.4(PDHA1):c.900-2A>G rs1555935197
NM_000284.4(PDHA1):c.900-85_900-67dup rs369951816
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.927A>G (p.Glu309=)
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.963_977dup (p.Lys321_Val325dup) rs2063233021
NM_000284.4(PDHA1):c.981_1008+6dup rs2147187364
NM_000284.4(PDHA1):c.985_998dup (p.Glu333fs) rs863224157
NM_000284.4(PDHA1):c.992G>T (p.Ser331Ile) rs2147187404

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