ClinVar Miner

List of variants reported as likely pathogenic for Combined oxidative phosphorylation defect type 15 by DASA

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu) rs397514614
NM_139242.4(MTFMT):c.459G>A (p.Trp153Ter) rs771725115

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