List of variants reported as pathogenic for Pyruvate dehydrogenase complex deficiency by ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	rs863224147
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	rs606231189
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)	rs863224150
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)

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