ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E1-alpha deficiency by Invitae

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ClinVar version:
Total variants: 119
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HGVS dbSNP
NC_000023.10:g.(?_18660114)_(19377781_?)del
NM_000284.4(PDHA1):c.*3_*13del (p.Ter391=)
NM_000284.4(PDHA1):c.1009-31_1009-7del
NM_000284.4(PDHA1):c.1009-9A>C
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)
NM_000284.4(PDHA1):c.1038T>C (p.Ile346=)
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382
NM_000284.4(PDHA1):c.1099C>T (p.His367Tyr) rs1602232961
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.1146G>A (p.Gln382=)
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln) rs201156613
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.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.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.240G>A (p.Gln80=) rs1602223831
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838
NM_000284.4(PDHA1):c.270C>T (p.Phe90=)
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.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.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.4(PDHA1):c.435T>C (p.Cys145=)
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
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.522C>T (p.Gly174=)
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met)
NM_000284.4(PDHA1):c.536T>C (p.Leu179Pro)
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.657T>C (p.Ile219=) rs778744930
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
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.732G>A (p.Lys244=)
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.783C>T (p.Cys261=)
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915
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.828G>A (p.Gly276=)
NM_000284.4(PDHA1):c.831+15C>T rs190157093
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.862C>T (p.Arg288Cys)
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+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.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.934_940del (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer) rs1602231539
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs) rs137853251
NM_000284.4(PDHA1):c.948T>A (p.Pro316=)
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)
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.999A>C (p.Glu333Asp) rs2228067

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