List of variants in gene TG studied for Congenital hypothyroidism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003235.5(TG):c.5370A>G (p.Ile1790Met)	rs73710715	0.01452
NM_003235.5(TG):c.5299_5301del (p.Asp1767del)	rs112749206	0.01445
NM_003235.5(TG):c.886C>T (p.Arg296Ter)	rs121912648	0.00041
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter)	rs121912646	0.00011
NM_003235.5(TG):c.6701C>A (p.Ala2234Asp)	rs370991693	0.00003
NM_003235.5(TG):c.5182T>C (p.Cys1728Arg)	rs376200169	0.00001
NM_003235.5(TG):c.5686+1G>T	rs374620255	0.00001
NM_003235.5(TG):c.7859G>A (p.Gly2620Asp)	rs978923522	0.00001
NM_003235.5(TG):c.2134dup (p.Ala712fs)	rs1815591671
NM_003235.5(TG):c.2234dup (p.Leu746fs)	rs1815680018
NM_003235.5(TG):c.3452del (p.Val1151fs)	rs766130576
NM_003235.5(TG):c.638+1G>A	rs1587178555
NM_003235.5(TG):c.649dup (p.Ala217fs)	rs1814692109

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.