List of variants in gene MTFMT reported as uncertain significance for combined oxidative phosphorylation deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
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.19C>G (p.Arg7Gly)	rs759489465
NM_139242.4(MTFMT):c.368T>C (p.Val123Ala)
NM_139242.4(MTFMT):c.460C>T (p.Arg154Cys)	rs760793624
NM_139242.4(MTFMT):c.466C>T (p.Pro156Ser)	rs2086395834

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