ClinVar Miner

List of variants in gene TXNRD2 studied for glucocorticoid deficiency 5

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006440.5(TXNRD2):c.1109T>C (p.Ile370Thr) rs1139793 0.77627
NM_006440.5(TXNRD2):c.177C>T (p.Ala59=) rs5748470 0.50192
NM_006440.5(TXNRD2):c.196G>T (p.Ala66Ser) rs5748469 0.35646
NM_006440.5(TXNRD2):c.1086+17G>A rs2239893 0.25106
NM_006440.5(TXNRD2):c.662+14G>A rs9606176 0.13466
NM_006440.5(TXNRD2):c.375-19T>G rs147120537 0.00527
NM_006440.5(TXNRD2):c.529-6C>T rs116054286 0.00525
NM_006440.5(TXNRD2):c.816C>T (p.Gly272=) rs144584524 0.00266
NM_006440.5(TXNRD2):c.110A>T (p.Gln37Leu) rs148092370 0.00150
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr) rs201913959 0.00036
NM_006440.5(TXNRD2):c.591+1G>C rs200610775 0.00016
NM_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp) rs61736941 0.00014
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys) rs557142042 0.00009
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr) rs373839226 0.00008
NM_006440.5(TXNRD2):c.175G>A (p.Ala59Thr) rs752863555 0.00007
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967 0.00006
NM_006440.5(TXNRD2):c.1348-2A>G rs768600057 0.00005
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg) rs759298418 0.00004
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys) rs183950022 0.00004
NM_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln) rs201349663 0.00003
NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter) rs200162480 0.00002
NM_006440.5(TXNRD2):c.417del (p.Asn140fs) rs780054798 0.00002
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val) rs373970291 0.00001
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs) rs758790391
NM_006440.5(TXNRD2):c.392C>T (p.Ala131Val) rs368359642
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu) rs2146120283
NM_006440.5(TXNRD2):c.763G>C (p.Gly255Arg) rs76079250
NM_006440.5(TXNRD2):c.949+437del rs35599379

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.