ClinVar Miner

List of variants in gene SLC5A5 reported as benign for congenital hypothyroidism

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000453.3(SLC5A5):c.1767+29A>G rs4808709 0.23067
NM_000453.3(SLC5A5):c.*226T>C rs12327843 0.22674
NM_000453.3(SLC5A5):c.1652-9G>A rs4808708 0.18985
NM_000453.3(SLC5A5):c.1326A>C (p.Thr442=) rs73520743 0.05215
NM_000453.3(SLC5A5):c.-54C>T rs112077649 0.01822
NM_000453.3(SLC5A5):c.839+11C>T rs182064161 0.00650
NM_000453.3(SLC5A5):c.861C>T (p.Val287=) rs35209536

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.