ClinVar Miner

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

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Total variants: 38
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HGVS dbSNP
NM_000284.4(PDHA1):c.*1297G>A
NM_000284.4(PDHA1):c.*1306G>A
NM_000284.4(PDHA1):c.*1347C>T
NM_000284.4(PDHA1):c.*1376C>T
NM_000284.4(PDHA1):c.*1458C>T
NM_000284.4(PDHA1):c.*1624T>C
NM_000284.4(PDHA1):c.*1779A>T
NM_000284.4(PDHA1):c.*198G>A
NM_000284.4(PDHA1):c.*321C>T
NM_000284.4(PDHA1):c.*349A>G
NM_000284.4(PDHA1):c.*432C>T
NM_000284.4(PDHA1):c.*549A>G
NM_000284.4(PDHA1):c.*575T>C
NM_000284.4(PDHA1):c.*729G>A
NM_000284.4(PDHA1):c.-79C>T
NM_000284.4(PDHA1):c.1014_1034dup (p.Glu345_Ile346insAspAspValGluValArgLys)
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del) rs1602233040
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) rs764996618
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.511G>T (p.Val171Leu) rs1602226867
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.65G>C (p.Arg22Thr) rs1057518756
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val) rs863224145
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr)
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) rs1602229682
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala) rs1602231489
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.998_1008+20dup

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