List of variants studied for Pyruvate dehydrogenase E1-alpha deficiency by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	rs606231189
NM_000284.4(PDHA1):c.461A>G (p.His154Arg)	rs1131692230
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)	rs2147180742
NM_000284.4(PDHA1):c.630G>T (p.Met210Ile)	rs2147180753
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala)	rs1602231489

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