ClinVar Miner

List of variants in gene PDHA1 reported as likely benign for pyruvate dehydrogenase deficiency

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 215
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.507G>A (p.Ala169=) rs141862527 0.00077
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000284.4(PDHA1):c.57+6A>T rs375415868 0.00014
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) rs767503319 0.00010
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809 0.00009
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln) rs201156613 0.00009
NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln) rs144967854 0.00008
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832 0.00006
NM_000284.4(PDHA1):c.660C>T (p.Phe220=) rs745607005 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.126C>G (p.Asp42Glu) rs759331650 0.00004
NM_000284.4(PDHA1):c.657T>C (p.Ile219=) rs778744930 0.00004
NM_000284.4(PDHA1):c.1110C>A (p.Ser370=) rs775280711 0.00003
NM_000284.4(PDHA1):c.139G>A (p.Glu47Lys) rs745312079 0.00003
NM_000284.4(PDHA1):c.42C>T (p.Gly14=) rs778260543 0.00003
NM_000284.4(PDHA1):c.69G>A (p.Val23=) rs770667770 0.00003
NM_000284.4(PDHA1):c.899+8C>T rs766362480 0.00003
NM_000284.4(PDHA1):c.21C>T (p.Ala7=) rs1367997023 0.00002
NM_000284.4(PDHA1):c.318C>T (p.Ala106=) rs764516370 0.00002
NM_000284.4(PDHA1):c.663C>T (p.Ile221=) rs929262350 0.00002
NM_000284.4(PDHA1):c.759+9A>G rs2643456 0.00002
NM_000284.4(PDHA1):c.810T>G (p.Ala270=) rs763733376 0.00002
NM_000284.4(PDHA1):c.983A>G (p.Asn328Ser) rs758465753 0.00002
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382 0.00001
NM_000284.4(PDHA1):c.1083G>A (p.Leu361=) rs745312753 0.00001
NM_000284.4(PDHA1):c.117+9T>G rs763924525 0.00001
NM_000284.4(PDHA1):c.292-23A>G rs1057518702 0.00001
NM_000284.4(PDHA1):c.30C>T (p.Arg10=) rs1425138915 0.00001
NM_000284.4(PDHA1):c.333A>G (p.Thr111=) rs1198119577 0.00001
NM_000284.4(PDHA1):c.411G>A (p.Glu137=) rs1301075698 0.00001
NM_000284.4(PDHA1):c.419-8A>G rs769681451 0.00001
NM_000284.4(PDHA1):c.477C>T (p.Asn159=) rs2063173885 0.00001
NM_000284.4(PDHA1):c.511-6T>C rs1438332782 0.00001
NM_000284.4(PDHA1):c.696T>C (p.Ser232=) rs764871850 0.00001
NM_000284.4(PDHA1):c.699T>C (p.Val233=) rs1279461531 0.00001
NM_000284.4(PDHA1):c.702G>A (p.Glu234=) rs1312669828 0.00001
NM_000284.4(PDHA1):c.756G>A (p.Leu252=) rs768600287 0.00001
NM_000284.4(PDHA1):c.873A>T (p.Gly291=) rs1248347868 0.00001
NM_000284.4(PDHA1):c.899+4C>T rs749903004 0.00001
NM_000284.4(PDHA1):c.900-10C>A rs370163447 0.00001
NM_000284.4(PDHA1):c.903C>T (p.Tyr301=) rs1432211611 0.00001
NM_000284.4(PDHA1):c.948T>A (p.Pro316=) rs759443348 0.00001
NM_000284.4(PDHA1):c.1008+16C>T
NM_000284.4(PDHA1):c.1008+17A>G
NM_000284.4(PDHA1):c.1008+18T>C
NM_000284.4(PDHA1):c.1008+6_1008+14dup rs2147187474
NM_000284.4(PDHA1):c.1008+6_1008+28dup rs1455097408
NM_000284.4(PDHA1):c.1008+6_1008+9dup rs2147187465
NM_000284.4(PDHA1):c.1008+9_1008+17dup rs1569193552
NM_000284.4(PDHA1):c.1008+9_1008+18dup
NM_000284.4(PDHA1):c.1009-11C>T
NM_000284.4(PDHA1):c.1009-12_1009-9dup
NM_000284.4(PDHA1):c.1009-14T>C
NM_000284.4(PDHA1):c.1009-16G>A
NM_000284.4(PDHA1):c.1009-16G>T
NM_000284.4(PDHA1):c.1009-16_1009-14dup
NM_000284.4(PDHA1):c.1009-17_1009-12del
NM_000284.4(PDHA1):c.1009-18C>A
NM_000284.4(PDHA1):c.1009-18_1009-10del
NM_000284.4(PDHA1):c.1009-28_1009-8del rs2147188873
NM_000284.4(PDHA1):c.1009-31_1009-7del rs1569193972
NM_000284.4(PDHA1):c.1009-9_1009-6dup
NM_000284.4(PDHA1):c.1026G>A (p.Val342=)
NM_000284.4(PDHA1):c.1038T>C (p.Ile346=) rs2147189069
NM_000284.4(PDHA1):c.1050C>T (p.Ala350=) rs2147189097
NM_000284.4(PDHA1):c.105A>G (p.Thr35=)
NM_000284.4(PDHA1):c.1065C>A (p.Ala355=)
NM_000284.4(PDHA1):c.1099C>T (p.His367Tyr) rs1602232961
NM_000284.4(PDHA1):c.1146G>A (p.Gln382=) rs767675495
NM_000284.4(PDHA1):c.1155G>A (p.Lys385=)
NM_000284.4(PDHA1):c.1169_1172dup (p.Ter391=)
NM_000284.4(PDHA1):c.117+15A>G
NM_000284.4(PDHA1):c.117+7G>A rs1232550777
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.118-13T>A
NM_000284.4(PDHA1):c.118-16C>T
NM_000284.4(PDHA1):c.118-20A>C
NM_000284.4(PDHA1):c.118-8C>A rs774137227
NM_000284.4(PDHA1):c.135G>A (p.Arg45=)
NM_000284.4(PDHA1):c.147C>T (p.Gly49=) rs1555933449
NM_000284.4(PDHA1):c.15C>T (p.Leu5=) rs1203110648
NM_000284.4(PDHA1):c.162A>C (p.Thr54=) rs1602223801
NM_000284.4(PDHA1):c.186C>T (p.Leu62=) rs1031411207
NM_000284.4(PDHA1):c.18C>T (p.Ala6=) rs1275009783
NM_000284.4(PDHA1):c.192C>T (p.Tyr64=) rs2147174737
NM_000284.4(PDHA1):c.196A>C (p.Arg66=)
NM_000284.4(PDHA1):c.211G>A (p.Val71Ile)
NM_000284.4(PDHA1):c.21C>G (p.Ala7=)
NM_000284.4(PDHA1):c.225G>A (p.Glu75=) rs1569190079
NM_000284.4(PDHA1):c.240G>A (p.Gln80=) rs1602223831
NM_000284.4(PDHA1):c.270C>T (p.Phe90=) rs2147174805
NM_000284.4(PDHA1):c.291+8G>A rs1022434857
NM_000284.4(PDHA1):c.292-10T>A
NM_000284.4(PDHA1):c.292-16C>T
NM_000284.4(PDHA1):c.292-7A>G rs2147175965
NM_000284.4(PDHA1):c.292-8T>A
NM_000284.4(PDHA1):c.292-9C>T rs371532584
NM_000284.4(PDHA1):c.294A>G (p.Glu98=)
NM_000284.4(PDHA1):c.300C>T (p.Cys100=)
NM_000284.4(PDHA1):c.306G>T (p.Val102=) rs2063161583
NM_000284.4(PDHA1):c.321C>T (p.Gly107=)
NM_000284.4(PDHA1):c.330C>T (p.Pro110=) rs2147176033
NM_000284.4(PDHA1):c.336C>T (p.Asp112=) rs1294663884
NM_000284.4(PDHA1):c.345C>T (p.Ile115=) rs997748901
NM_000284.4(PDHA1):c.354C>T (p.Tyr118=)
NM_000284.4(PDHA1):c.375C>T (p.Phe125=) rs2063162028
NM_000284.4(PDHA1):c.405C>T (p.Leu135=)
NM_000284.4(PDHA1):c.418+8G>C
NM_000284.4(PDHA1):c.419-20G>A
NM_000284.4(PDHA1):c.419-20G>C
NM_000284.4(PDHA1):c.435T>C (p.Cys145=) rs1268555913
NM_000284.4(PDHA1):c.444G>A (p.Gly148=)
NM_000284.4(PDHA1):c.456G>A (p.Ser152=) rs1358837850
NM_000284.4(PDHA1):c.501G>C (p.Val167=) rs2147178257
NM_000284.4(PDHA1):c.510+13G>A
NM_000284.4(PDHA1):c.510+18T>C
NM_000284.4(PDHA1):c.511-12C>T
NM_000284.4(PDHA1):c.511-19C>T
NM_000284.4(PDHA1):c.511-5G>A rs2063182597
NM_000284.4(PDHA1):c.511-6_511-3dup rs2147179692
NM_000284.4(PDHA1):c.516C>T (p.Pro172=)
NM_000284.4(PDHA1):c.534T>C (p.Ala178=)
NM_000284.4(PDHA1):c.54G>A (p.Lys18=) rs1383593536
NM_000284.4(PDHA1):c.552T>C (p.Asn184=)
NM_000284.4(PDHA1):c.558A>G (p.Lys186=) rs2147179763
NM_000284.4(PDHA1):c.567C>G (p.Val189=)
NM_000284.4(PDHA1):c.57+11C>G rs1381469880
NM_000284.4(PDHA1):c.57+16C>T
NM_000284.4(PDHA1):c.57+17G>A
NM_000284.4(PDHA1):c.57+17G>C
NM_000284.4(PDHA1):c.57+7C>T
NM_000284.4(PDHA1):c.57+8C>A
NM_000284.4(PDHA1):c.579A>G (p.Leu193=) rs2147179786
NM_000284.4(PDHA1):c.58-4T>A
NM_000284.4(PDHA1):c.58-4T>C rs2147174061
NM_000284.4(PDHA1):c.58-8C>T
NM_000284.4(PDHA1):c.603+8T>G
NM_000284.4(PDHA1):c.603+9G>A
NM_000284.4(PDHA1):c.604-14G>C
NM_000284.4(PDHA1):c.604-14G>T
NM_000284.4(PDHA1):c.604-15C>G
NM_000284.4(PDHA1):c.604-19T>G
NM_000284.4(PDHA1):c.604-4C>G
NM_000284.4(PDHA1):c.604-8A>G rs2147180716
NM_000284.4(PDHA1):c.606C>A (p.Gly202=)
NM_000284.4(PDHA1):c.615C>T (p.Phe205=)
NM_000284.4(PDHA1):c.639G>A (p.Leu213=) rs2147180760
NM_000284.4(PDHA1):c.645A>G (p.Lys215=)
NM_000284.4(PDHA1):c.672T>C (p.Asn224=) rs2147180826
NM_000284.4(PDHA1):c.681T>C (p.Tyr227=)
NM_000284.4(PDHA1):c.693G>C (p.Thr231=) rs138237215
NM_000284.4(PDHA1):c.693G>T (p.Thr231=) rs138237215
NM_000284.4(PDHA1):c.696T>A (p.Ser232=)
NM_000284.4(PDHA1):c.708G>C (p.Ala236=) rs750307419
NM_000284.4(PDHA1):c.708G>T (p.Ala236=) rs750307419
NM_000284.4(PDHA1):c.717C>T (p.Ser239=)
NM_000284.4(PDHA1):c.729C>T (p.Tyr243=) rs2147180937
NM_000284.4(PDHA1):c.732G>A (p.Lys244=) rs2147180959
NM_000284.4(PDHA1):c.756G>C (p.Leu252=) rs768600287
NM_000284.4(PDHA1):c.759+11C>G
NM_000284.4(PDHA1):c.759+26GGCCAA[5]
NM_000284.4(PDHA1):c.759+8C>T rs1251981151
NM_000284.4(PDHA1):c.759+9del rs1602227706
NM_000284.4(PDHA1):c.760-11T>C
NM_000284.4(PDHA1):c.760-12_760-9dup
NM_000284.4(PDHA1):c.760-13T>C
NM_000284.4(PDHA1):c.760-13T>G
NM_000284.4(PDHA1):c.760-15C>G
NM_000284.4(PDHA1):c.760-18T>G
NM_000284.4(PDHA1):c.760-19C>A
NM_000284.4(PDHA1):c.760-19C>T
NM_000284.4(PDHA1):c.760-5A>T
NM_000284.4(PDHA1):c.760-8_760-5dup
NM_000284.4(PDHA1):c.765T>C (p.Asp255=) rs1602227938
NM_000284.4(PDHA1):c.778C>T (p.Leu260=)
NM_000284.4(PDHA1):c.780G>C (p.Leu260=)
NM_000284.4(PDHA1):c.783C>T (p.Cys261=) rs1569191865
NM_000284.4(PDHA1):c.807T>C (p.Ala269=) rs2063192689
NM_000284.4(PDHA1):c.813C>T (p.Ala271=) rs1602228001
NM_000284.4(PDHA1):c.816T>C (p.Tyr272=) rs2147181545
NM_000284.4(PDHA1):c.828G>A (p.Gly276=) rs2147181559
NM_000284.4(PDHA1):c.831+16C>T
NM_000284.4(PDHA1):c.831+18T>G
NM_000284.4(PDHA1):c.831+7C>T
NM_000284.4(PDHA1):c.831+8T>G rs2147181572
NM_000284.4(PDHA1):c.832-14C>G
NM_000284.4(PDHA1):c.832-6T>C rs2063212957
NM_000284.4(PDHA1):c.832-7_832-4dup
NM_000284.4(PDHA1):c.832-9_832-8del
NM_000284.4(PDHA1):c.837C>T (p.Pro279=)
NM_000284.4(PDHA1):c.844A>T (p.Met282Leu)
NM_000284.4(PDHA1):c.852G>T (p.Leu284=)
NM_000284.4(PDHA1):c.861C>T (p.Tyr287=) rs1057521179
NM_000284.4(PDHA1):c.867C>T (p.Tyr289=) rs1418512491
NM_000284.4(PDHA1):c.891T>C (p.Pro297=) rs2147184530
NM_000284.4(PDHA1):c.899+15A>C
NM_000284.4(PDHA1):c.899+15A>G
NM_000284.4(PDHA1):c.899+9A>C rs751604605
NM_000284.4(PDHA1):c.899+9A>G rs751604605
NM_000284.4(PDHA1):c.900-10C>T rs370163447
NM_000284.4(PDHA1):c.900-10del
NM_000284.4(PDHA1):c.900-16T>C
NM_000284.4(PDHA1):c.900-18_900-15dup
NM_000284.4(PDHA1):c.900-4A>C rs1262041210
NM_000284.4(PDHA1):c.900-4A>G
NM_000284.4(PDHA1):c.960C>T (p.Leu320=)
NM_000284.4(PDHA1):c.966C>T (p.Asp322=)
NM_000284.4(PDHA1):c.978C>T (p.Asn326=) rs779045292
NM_000284.4(PDHA1):c.990C>T (p.Ala330=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.