List of variants reported as likely pathogenic for Pyruvate dehydrogenase E1-alpha deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)	rs1272572107	0.00001
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)	rs2063233462	0.00001
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)	rs2519341308
NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)	rs2063192428
NM_000284.4(PDHA1):c.899+2T>C	rs2063213491

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