ClinVar Miner

List of variants studied 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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