ClinVar Miner

List of variants in gene PDHA1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP
NM_000284.4(PDHA1):c.*110C>T
NM_000284.4(PDHA1):c.*198G>A
NM_000284.4(PDHA1):c.*319G>T
NM_000284.4(PDHA1):c.*321C>T
NM_000284.4(PDHA1):c.*322G>A
NM_000284.4(PDHA1):c.*349A>G
NM_000284.4(PDHA1):c.*392G>A
NM_000284.4(PDHA1):c.*3_*13del (p.Ter391=)
NM_000284.4(PDHA1):c.*79_*90dup rs1555935690
NM_000284.4(PDHA1):c.-79C>T
NM_000284.4(PDHA1):c.-88G>A
NM_000284.4(PDHA1):c.-98C>T
NM_000284.4(PDHA1):c.1009-31_1009-7del
NM_000284.4(PDHA1):c.1009-9A>C
NM_000284.4(PDHA1):c.1014_1034dup (p.Glu345_Ile346insAspAspValGluValArgLys)
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs) rs1569194036
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)
NM_000284.4(PDHA1):c.1038T>C (p.Ile346=)
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) rs1555935486
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro) rs1157736285
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382
NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs) rs606231187
NM_000284.4(PDHA1):c.1074_1109dup (p.Pro359_Ser370dup) rs606231191
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)
NM_000284.4(PDHA1):c.1099C>T (p.His367Tyr) rs1602232961
NM_000284.4(PDHA1):c.1100A>T (p.His367Leu)
NM_000284.4(PDHA1):c.1110C>A (p.Ser370=) rs775280711
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=)
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del) rs1602233040
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.1142A>G (p.Asn381Ser)
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1146G>A (p.Gln382=)
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln) rs201156613
NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs) rs606231186
NM_000284.4(PDHA1):c.1167_1170del (p.Ser390fs) rs606231184
NM_000284.4(PDHA1):c.117+7G>A
NM_000284.4(PDHA1):c.117+9T>G
NM_000284.4(PDHA1):c.1170T>C (p.Ser390=)
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.118-8C>A
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu)
NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln)
NM_000284.4(PDHA1):c.162A>C (p.Thr54=) rs1602223801
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832
NM_000284.4(PDHA1):c.186C>T (p.Leu62=)
NM_000284.4(PDHA1):c.192C>T (p.Tyr64=)
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.217C>A (p.Arg73=)
NM_000284.4(PDHA1):c.21C>T (p.Ala7=)
NM_000284.4(PDHA1):c.225G>T (p.Glu75Asp) rs1569190079
NM_000284.4(PDHA1):c.240G>A (p.Gln80=) rs1602223831
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.270C>T (p.Phe90=)
NM_000284.4(PDHA1):c.291+12G>A
NM_000284.4(PDHA1):c.291+1_418+1dup
NM_000284.4(PDHA1):c.292-23A>G rs1057518702
NM_000284.4(PDHA1):c.292-5C>T rs191666624
NM_000284.4(PDHA1):c.292-7A>G
NM_000284.4(PDHA1):c.292-9C>T
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro) rs137853257
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
NM_000284.4(PDHA1):c.30C>T (p.Arg10=)
NM_000284.4(PDHA1):c.318C>T (p.Ala106=) rs764516370
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) rs764996618
NM_000284.4(PDHA1):c.327C>T (p.Asn109=)
NM_000284.4(PDHA1):c.330C>T (p.Pro110=)
NM_000284.4(PDHA1):c.333A>G (p.Thr111=)
NM_000284.4(PDHA1):c.345C>T (p.Ile115=)
NM_000284.4(PDHA1):c.363C>T (p.His121=) rs183170654
NM_000284.4(PDHA1):c.375C>T (p.Phe125=)
NM_000284.4(PDHA1):c.390C>T (p.Ser130=)
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886
NM_000284.4(PDHA1):c.411G>A (p.Glu137=) rs1301075698
NM_000284.4(PDHA1):c.418+8G>A
NM_000284.4(PDHA1):c.419-8A>G
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg) rs1057518695
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.4(PDHA1):c.435T>C (p.Cys145=)
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.461A>G (p.His154Arg) rs1131692230
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.506C>T (p.Ala169Val) rs863224150
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527
NM_000284.4(PDHA1):c.511-5G>A
NM_000284.4(PDHA1):c.511-6T>C
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu) rs1602226867
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr) rs1569191372
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met)
NM_000284.4(PDHA1):c.536T>C (p.Leu179Pro)
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.57+2531T>C
NM_000284.4(PDHA1):c.57+6A>T rs375415868
NM_000284.4(PDHA1):c.58-1G>A rs1569189834
NM_000284.4(PDHA1):c.604-10C>T rs201754585
NM_000284.4(PDHA1):c.604-15C>T rs13440874
NM_000284.4(PDHA1):c.604-8A>G
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys) rs1569191659
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe) rs121917898
NM_000284.4(PDHA1):c.657T>C (p.Ile219=) rs778744930
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr) rs1057518756
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
NM_000284.4(PDHA1):c.661A>G (p.Ile221Val)
NM_000284.4(PDHA1):c.672T>C (p.Asn224=)
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215
NM_000284.4(PDHA1):c.693G>T (p.Thr231=)
NM_000284.4(PDHA1):c.69G>A (p.Val23=)
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val) rs863224145
NM_000284.4(PDHA1):c.708G>A (p.Ala236=)
NM_000284.4(PDHA1):c.708G>C (p.Ala236=)
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn) rs137853255
NM_000284.4(PDHA1):c.732G>A (p.Lys244=)
NM_000284.4(PDHA1):c.738C>T (p.Gly246=) rs1555934379
NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn)
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) rs1602227679
NM_000284.4(PDHA1):c.756G>C (p.Leu252=)
NM_000284.4(PDHA1):c.759+10C>G rs375488072
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.759+26GGCCAA[2]
NM_000284.4(PDHA1):c.759+8C>T
NM_000284.4(PDHA1):c.759+9A>G
NM_000284.4(PDHA1):c.759+9del rs1602227706
NM_000284.4(PDHA1):c.760-15C>A rs7058209
NM_000284.4(PDHA1):c.765T>C (p.Asp255=) rs1602227938
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala) rs137853253
NM_000284.4(PDHA1):c.783C>T (p.Cys261=)
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs) rs1569191879
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213
NM_000284.4(PDHA1):c.810T>G (p.Ala270=)
NM_000284.4(PDHA1):c.813C>T (p.Ala271=) rs1602228001
NM_000284.4(PDHA1):c.816T>C (p.Tyr272=)
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr)
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs) rs1602228017
NM_000284.4(PDHA1):c.828G>A (p.Gly276=)
NM_000284.4(PDHA1):c.82C>T (p.Arg28Cys) rs759062849
NM_000284.4(PDHA1):c.831+15C>T rs190157093
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) rs1057521993
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) rs1602229682
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000284.4(PDHA1):c.861_862insT (p.Arg288fs) rs606231190
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)
NM_000284.4(PDHA1):c.863G>A (p.Arg288His) rs137853258
NM_000284.4(PDHA1):c.867C>T (p.Tyr289=)
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007
NM_000284.4(PDHA1):c.874_881dup (p.Met294fs)
NM_000284.4(PDHA1):c.891T>C (p.Pro297=)
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647
NM_000284.4(PDHA1):c.899+2T>A
NM_000284.4(PDHA1):c.899+4C>T
NM_000284.4(PDHA1):c.899+8C>T rs766362480
NM_000284.4(PDHA1):c.899+9A>G rs751604605
NM_000284.4(PDHA1):c.900-10C>T
NM_000284.4(PDHA1):c.900-3_917dup rs606231188
NM_000284.4(PDHA1):c.903C>T (p.Tyr301=)
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.907A>G (p.Thr303Ala) rs1602231489
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)
NM_000284.4(PDHA1):c.918_927dup (p.Val310fs)
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.936_939del (p.Ser312fs) rs863224153
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs) rs137853251
NM_000284.4(PDHA1):c.938_940del (p.Lys313del) rs137853251
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) rs137853256
NM_000284.4(PDHA1):c.948T>A (p.Pro316=)
NM_000284.4(PDHA1):c.949_952dup (p.Met318fs)
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile) rs755945768
NM_000284.4(PDHA1):c.978C>T (p.Asn326=)
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) rs767503319
NM_000284.4(PDHA1):c.998_1008+20dup
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067
PDHA1, 13-BP INS, EX10

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