ClinVar Miner

List of variants reported as likely pathogenic for Pyruvate dehydrogenase E1-alpha deficiency

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Total variants: 8
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HGVS dbSNP
NM_000284.4(PDHA1):c.291+1_418+1dup
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
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.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)
NM_000284.4(PDHA1):c.789_790AG[1] (p.Glu264fs) rs1569191879
NM_001135024.1(PDHX):c.88delT rs1158194122

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