ClinVar Miner

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

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Total variants: 10
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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.994C>T (p.Arg332Ter) rs200286768 0.00011
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter) rs397514613 0.00001
NM_139242.4(MTFMT):c.452C>T (p.Pro151Leu) rs587777244 0.00001
NM_139242.4(MTFMT):c.146_153del (p.Arg49fs) rs587777417
NM_139242.4(MTFMT):c.219_222del (p.Glu74fs) rs777725264
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu) rs397514614
NM_139242.4(MTFMT):c.73C>T (p.Gln25Ter) rs587777419
NM_139242.4(MTFMT):c.878G>A (p.Ser293Asn) rs587777418
NM_139242.4(MTFMT):c.91C>T (p.Arg31Ter) rs1555404423

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