ClinVar Miner

List of variants in gene PDHA1 reported as likely benign for Pyruvate dehydrogenase E1-alpha deficiency

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Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
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.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.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.810T>G (p.Ala270=) rs763733376 0.00002
NM_000284.4(PDHA1):c.983A>G (p.Asn328Ser) rs758465753 0.00002
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+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.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.118-13T>A
NM_000284.4(PDHA1):c.118-8C>A rs774137227
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.292-16C>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.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>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.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.760-18T>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.832-7_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=)

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