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

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Total variants: 12

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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.491A>G (p.Asn164Ser)	rs1555933963
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)	rs1555934165
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)	rs137853254
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys)	rs1569191659
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)	rs1272572107
NM_000284.4(PDHA1):c.738C>T (p.Gly246=)	rs1555934379
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)	rs137853259
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del)	rs1555935223
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs)	rs863224153

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