ClinVar Miner

List of variants in gene TRMT5 studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020810.3(TRMT5):c.70A>G (p.Ile24Val) rs115407315 0.00199
NM_020810.3(TRMT5):c.1481C>T (p.Thr494Met) rs114570574 0.00031
NM_020810.3(TRMT5):c.881A>C (p.Glu294Ala) rs2296928 0.00006
NM_020810.3(TRMT5):c.872G>A (p.Arg291His) rs746738473 0.00003
NM_020810.3(TRMT5):c.1156A>G (p.Met386Val) rs1057517685 0.00001
NM_020810.3(TRMT5):c.1218G>C (p.Gln406His) rs1566589376
NM_020810.3(TRMT5):c.171C>G (p.Phe57Leu) rs978146113
NM_020810.3(TRMT5):c.267_270delinsCTG (p.Ala89_Phe90insTer)
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_020810.3(TRMT5):c.665T>C (p.Ile222Thr) rs766935145

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.