ClinVar Miner

List of variants studied for thyroid hormone resistance syndrome by Mendelics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003466.4(PAX8):c.215G>A (p.Arg72Gln) rs769138605 0.00032
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) rs374652916 0.00006
NM_003466.4(PAX8):c.709G>C (p.Glu237Gln) rs199890664 0.00002
NM_003466.4(PAX8):c.1139C>T (p.Thr380Ile) rs987647241 0.00001
NM_001354712.2(THRB):c.1192A>C (p.Ser398Arg) rs1318079339

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.