ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter) rs397514613 0.00001
NM_139242.4(MTFMT):c.1116del (p.Pro373fs) rs863224897
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu) rs397514614
NM_139242.4(MTFMT):c.459G>A (p.Trp153Ter) rs771725115

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