List of variants reported as uncertain significance for Pyruvate dehydrogenase E3-binding protein deficiency by Revvity Omics, Revvity

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)	rs139052284	0.00111
NM_003477.3(PDHX):c.542G>A (p.Arg181Gln)	rs148117169	0.00009
NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp)	rs200189510
NM_003477.3(PDHX):c.1418G>C (p.Ser473Thr)
NM_003477.3(PDHX):c.23G>C (p.Gly8Ala)
NM_003477.3(PDHX):c.293C>T (p.Ala98Val)
NM_003477.3(PDHX):c.793A>G (p.Thr265Ala)

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