ClinVar Miner

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

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Total variants: 3

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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.1034A>T (p.Asp345Val)	rs556425857	0.00001
NM_003477.3(PDHX):c.44G>A (p.Arg15His)	rs387906998	0.00001

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