List of variants studied for combined oxidative phosphorylation defect type 15 by Baylor Genetics

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Total variants: 7

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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.34C>A (p.Pro12Thr)	rs933296601	0.00021
NM_139242.4(MTFMT):c.419+3A>G	rs182623063	0.00006
NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del)	rs769122836
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu)	rs397514614
NM_139242.4(MTFMT):c.460C>T (p.Arg154Cys)	rs760793624
NM_139242.4(MTFMT):c.466C>T (p.Pro156Ser)	rs2086395834

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