List of variants reported as likely pathogenic for Pyruvate dehydrogenase E1-alpha deficiency by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu)	rs1555933954
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)	rs1555934165
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)	rs1272572107

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