List of variants in gene THRB reported as likely benign for thyroid hormone resistance syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001354712.2(THRB):c.*4611del	rs147687234	0.01502
NM_001354712.2(THRB):c.*1372C>A	rs147542176	0.00081
NM_001354712.2(THRB):c.1125C>T (p.Ala375=)	rs148991421	0.00033
NM_001354712.2(THRB):c.213C>A (p.Asp71Glu)	rs141495471	0.00016
NM_001354712.2(THRB):c.283+12T>C	rs372413180	0.00013
NM_001354712.2(THRB):c.1053C>T (p.Asp351=)	rs115445992	0.00011
NM_001354712.2(THRB):c.*4714T>C	rs577889185	0.00009
NM_001354712.2(THRB):c.68G>A (p.Arg23Gln)	rs200124942	0.00009
NM_001354712.2(THRB):c.175A>G (p.Ile59Val)	rs141172732	0.00003
NM_001354712.2(THRB):c.*1861A>G	rs529916834	0.00002
NM_001354712.2(THRB):c.*1750del	rs147125300
NM_001354712.2(THRB):c.*1776dup	rs536659624
NM_001354712.2(THRB):c.*2572ATTG[3]	rs144580659
NM_001354712.2(THRB):c.*3324dup	rs35554555
NM_001354712.2(THRB):c.*570dup	rs569875966
NM_001354712.2(THRB):c.*900del	rs373141874

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.