List of variants reported as pathogenic for pyruvate dehydrogenase deficiency by Mendelics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000108.5(DLD):c.1440A>G (p.Ile480Met)	rs772512477	0.00002
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)	rs2063162114
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)	rs794729213
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)	rs1602228017

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