ClinVar Miner

List of variants in gene TIMMDC1 studied for Mitochondrial complex 1 deficiency, nuclear type 31

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016589.4(TIMMDC1):c.597-35G>T rs4461452 0.31250
NM_016589.4(TIMMDC1):c.597-1340A>G rs781525096 0.00011
NM_016589.4(TIMMDC1):c.410G>A (p.Arg137His) rs142096113 0.00006
NM_016589.4(TIMMDC1):c.385C>T (p.Arg129Ter) rs970547270 0.00005
NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met) rs370482859 0.00003
NM_016589.4(TIMMDC1):c.598A>G (p.Thr200Ala) rs200592275 0.00002
NM_016589.4(TIMMDC1):c.-2C>T rs562405336 0.00001
NM_016589.4(TIMMDC1):c.194+2T>C
NM_016589.4(TIMMDC1):c.1A>G (p.Met1Val)
NM_016589.4(TIMMDC1):c.361-5T>G rs531927123
NM_016589.4(TIMMDC1):c.596+1del
NM_016589.4(TIMMDC1):c.751G>T (p.Glu251Ter)
NM_016589.4(TIMMDC1):c.814del (p.Leu272fs) rs750461248

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.