List of variants reported as pathogenic for autoimmune thyroid disease, susceptibility to by Fulgent Genetics, Fulgent Genetics

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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.5386C>T (p.Gln1796Ter)	rs754658907	0.00004
NM_003235.5(TG):c.2359C>T (p.Arg787Ter)	rs752966476	0.00002
NM_003235.5(TG):c.1076-1G>C	rs1412480668
NM_003235.5(TG):c.1348del (p.Ser450fs)
NM_003235.5(TG):c.1351C>T (p.Arg451Ter)	rs773142559
NM_003235.5(TG):c.1911G>A (p.Trp637Ter)
NM_003235.5(TG):c.274+2T>G
NM_003235.5(TG):c.3871C>T (p.Gln1291Ter)
NM_003235.5(TG):c.416G>A (p.Trp139Ter)	rs141306917
NM_003235.5(TG):c.6391_6394del (p.Leu2131fs)
NM_003235.5(TG):c.961C>T (p.Arg321Ter)

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.