ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 15; Mitochondrial complex 1 deficiency, nuclear type 27 by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter) rs397514613 0.00001
NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del) rs769122836

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