ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del)
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) rs863224150
NM_000284.4(PDHA1):c.58-1G>A rs1569189834
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val)
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.927_933AGTAAGA[1] (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer)

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