ClinVar Miner

List of variants in gene combination LOC130005549, PDHX reported as likely pathogenic for Pyruvate dehydrogenase E3-binding protein deficiency

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_003477.3(PDHX):c.70C>T (p.Arg24Ter)

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