ClinVar Miner

List of variants in gene MTFMT reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys) rs35302908 0.00884
NM_139242.4(MTFMT):c.667T>A (p.Leu223Met) rs188461284 0.00375
NM_139242.4(MTFMT):c.186G>C (p.Ala62=) rs183891284 0.00256
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_139242.4(MTFMT):c.885C>T (p.Val295=) rs202082622 0.00058
NM_139242.4(MTFMT):c.1129A>C (p.Lys377Gln) rs34507711
NM_139242.4(MTFMT):c.146_153del (p.Arg49fs) rs587777417
NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp) rs199599204
NM_139242.4(MTFMT):c.21C>T (p.Arg7=)
NM_139242.4(MTFMT):c.273A>C (p.Pro91=)
NM_139242.4(MTFMT):c.419+2T>C
NM_139242.4(MTFMT):c.645+3A>G
NM_139242.4(MTFMT):c.834_835delinsAT (p.Trp278_Met279delinsTer)
NM_139242.4(MTFMT):c.972C>T (p.Cys324=)

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