ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial oxidative phosphorylation disorder

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)	rs143747297	0.00003
NM_025152.3(NUBPL):c.2T>C (p.Met1Thr)	rs567437692	0.00001
NM_032861.4(SERAC1):c.21C>A (p.Cys7Ter)	rs139301835

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