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

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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: 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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