ClinVar Miner

List of variants reported as uncertain significance for Pyruvate dehydrogenase E1-alpha deficiency

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.*549A>G rs187525386 0.00126
NM_000284.4(PDHA1):c.*575T>C rs191995452 0.00114
NM_000284.4(PDHA1):c.*1297G>A rs778678656 0.00112
NM_000284.4(PDHA1):c.*349A>G rs1013526559 0.00092
NM_000284.4(PDHA1):c.*432C>T rs754719295 0.00068
NM_000284.4(PDHA1):c.*321C>T rs886566327 0.00061
NM_000284.4(PDHA1):c.*729G>A rs376808450 0.00033
NM_000284.4(PDHA1):c.-79C>T rs942040058 0.00024
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000284.4(PDHA1):c.*1306G>A rs745566169 0.00018
NM_000284.4(PDHA1):c.*1458C>T rs923765752 0.00016
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) rs764996618 0.00011
NM_000284.4(PDHA1):c.*1347C>T rs1241045421 0.00006
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.854A>G (p.Gln285Arg) rs373275701 0.00002
NM_000284.4(PDHA1):c.*1376C>T rs963546680 0.00001
NM_000284.4(PDHA1):c.*1779A>T rs758279534 0.00001
NM_000284.4(PDHA1):c.1000G>A (p.Glu334Lys) rs1269552788 0.00001
NM_000284.4(PDHA1):c.1066G>A (p.Asp356Asn) rs770669838 0.00001
NM_000284.4(PDHA1):c.292-23A>G rs1057518702 0.00001
NM_000284.4(PDHA1):c.522C>T (p.Gly174=) rs769308417 0.00001
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile) rs755945768 0.00001
NC_000023.10:g.(?_19368035)_(19377771_?)dup
NM_000284.4(PDHA1):c.*10_*12del rs752082232
NM_000284.4(PDHA1):c.*1624T>C rs2063283398
NM_000284.4(PDHA1):c.*198G>A rs1003909173
NM_000284.4(PDHA1):c.1008+4C>T
NM_000284.4(PDHA1):c.1010A>C (p.Glu337Ala)
NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys) rs2063244761
NM_000284.4(PDHA1):c.1021G>C (p.Glu341Gln)
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg) rs1244401639
NM_000284.4(PDHA1):c.1033_1035dup (p.Glu345_Ile346insGlu)
NM_000284.4(PDHA1):c.1035G>T (p.Glu345Asp)
NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)
NM_000284.4(PDHA1):c.1088A>C (p.Glu363Ala)
NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg)
NM_000284.4(PDHA1):c.1103_1108dup (p.Tyr369_Ser370insPheTyr)
NM_000284.4(PDHA1):c.1109_1122del (p.Ser370fs)
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del) rs1602233040
NM_000284.4(PDHA1):c.1125_1145dup (p.Asn381_Gln382insHisGluValArgGlyAlaAsn)
NM_000284.4(PDHA1):c.1143T>G (p.Asn381Lys)
NM_000284.4(PDHA1):c.1144C>A (p.Gln382Lys)
NM_000284.4(PDHA1):c.1159_1164dup (p.Ser388_Val389insLysSer)
NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)
NM_000284.4(PDHA1):c.133C>T (p.Arg45Trp)
NM_000284.4(PDHA1):c.194A>C (p.Tyr65Ser)
NM_000284.4(PDHA1):c.231A>T (p.Lys77Asn) rs2147174771
NM_000284.4(PDHA1):c.239A>C (p.Gln80Pro)
NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.335_349del (p.Asp112_Thr116del)
NM_000284.4(PDHA1):c.397G>A (p.Glu133Lys)
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.47C>T (p.Ser16Phe)
NM_000284.4(PDHA1):c.499G>C (p.Val167Leu) rs2063174067
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu) rs1602226867
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met) rs2063182775
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val) rs2147179733
NM_000284.4(PDHA1):c.536T>C (p.Leu179Pro) rs1555934165
NM_000284.4(PDHA1):c.548A>G (p.Tyr183Cys) rs2147179754
NM_000284.4(PDHA1):c.57+2505C>G
NM_000284.4(PDHA1):c.630G>T (p.Met210Ile) rs2147180753
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr) rs1057518756
NM_000284.4(PDHA1):c.689G>C (p.Gly230Ala)
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val) rs863224145
NM_000284.4(PDHA1):c.734G>C (p.Arg245Thr)
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
NM_000284.4(PDHA1):c.769A>G (p.Met257Val)
NM_000284.4(PDHA1):c.784G>T (p.Val262Phe)
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro) rs2063192428
NM_000284.4(PDHA1):c.790G>A (p.Glu264Lys)
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr) rs2063192867
NM_000284.4(PDHA1):c.832-6T>C rs2063212957
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) rs1602229682
NM_000284.4(PDHA1):c.900-12_936dup
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala) rs1602231489
NM_000284.4(PDHA1):c.946C>G (p.Pro316Ala)
NM_000284.4(PDHA1):c.953T>A (p.Met318Lys)
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup) rs2063233021
NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)
NM_000284.4(PDHA1):c.998_1008+20dup rs2063233544
NM_001001671.4(MAP3K15):c.3781-7G>C rs2147195977

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