ClinVar Miner

List of variants in gene TSEN54 reported by Fulgent Genetics, Fulgent Genetics

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_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln) rs200228117 0.00041
NM_207346.3(TSEN54):c.1136G>A (p.Arg379Gln) rs201948434 0.00038
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp) rs147165460 0.00015
NM_207346.3(TSEN54):c.946C>T (p.Arg316Cys) rs377207901 0.00014
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter) rs143604970 0.00003
NM_207346.3(TSEN54):c.1186C>T (p.Arg396Trp) rs542013784 0.00001
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs) rs762142684 0.00001
NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr) rs1568003520

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.