List of variants reported as likely pathogenic for Pyruvate dehydrogenase E1-alpha deficiency by Revvity Omics, Revvity

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.195dup (p.Arg66fs)
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	rs1555933963
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)	rs2147180851
NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs)	rs2147184540
NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)

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