List of variants reported as benign for Pyruvate dehydrogenase E3-binding protein deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.531C>T (p.Pro177=)	rs76486106	0.01781
NM_003477.3(PDHX):c.438C>T (p.Asp146=)	rs75182779	0.01749
NM_003477.3(PDHX):c.957G>A (p.Leu319=)	rs36047324	0.00717
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)	rs35560997	0.00574

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