List of variants reported as likely pathogenic for Pyruvate dehydrogenase complex deficiency

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)	rs1555935486
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	rs863224148
NM_000284.4(PDHA1):c.677G>A (p.Arg226His)
NM_004424.5(E4F1):c.430A>C (p.Lys144Gln)

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