ClinVar Miner

List of variants in gene IRS4 studied for congenital hypothyroidism

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379150.1(IRS4):c.63G>A (p.Ala21=) rs2073114 0.37714
NM_001379150.1(IRS4):c.3215C>T (p.Ala1072Val) rs148098273 0.00006
NM_001379150.1(IRS4):c.1772dup (p.Lys592fs) rs780982673
NM_001379150.1(IRS4):c.2635C>G (p.His879Asp) rs1801164
NM_001379150.1(IRS4):c.3161_3165del (p.Cys1054fs) rs1603336347
NM_001379150.1(IRS4):c.643G>T (p.Gly215Ter) rs760832986

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.