ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 15 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys) rs35302908 0.00884
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) rs200286768 0.00011

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