List of variants reported as 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.1132C>T (p.Arg378Cys)	rs863224147
NM_000284.4(PDHA1):c.1133_1140del (p.Arg378fs)	rs2147189315
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)	rs794729213
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)	rs137853252
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)	rs606231185

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