ClinVar Miner

List of variants reported as likely pathogenic for Combined oxidative phosphorylation deficiency 14

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NC_000006.11:g.5193613_5281294del87682
NC_000006.11:g.5262296_5395849del133554
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058
NM_006567.5(FARS2):c.1163T>G (p.Ile388Ser) rs1407198979
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val) rs397514612
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) rs775690041
NM_006567.5(FARS2):c.192C>G (p.Ser64Arg) rs1554169280
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala) rs770035560
NM_006567.5(FARS2):c.3G>T (p.Met1Ile)
NM_006567.5(FARS2):c.403C>G (p.His135Asp) rs1554169353
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006567.5(FARS2):c.457A>G (p.Arg153Gly) rs1561990337
NM_006567.5(FARS2):c.467C>T (p.Thr156Met) rs146988468
NM_006567.5(FARS2):c.530T>A (p.Val177Asp) rs1561990552
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) rs202060864
NM_006567.5(FARS2):c.905-1G>A rs1298860043
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) rs764427452
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) rs397514611

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.