ClinVar Miner

List of variants studied for thyroiditis

Included ClinVar conditions (3):

Celiac disease, susceptibility to, 3; Type 1 diabetes mellitus 12; Hashimoto thyroiditis; Systemic lupus erythematosus; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Diabetes mellitus type 1; Glomerulonephritis; Autoimmunity; Chronic gastritis; Gastritis; Crescentic glomerulonephritis; Chronic kidney disease; Thyroiditis; Autosomal dominant inheritance; Diabetes mellitus; X-linked dominant inheritance
Thyroiditis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001807.6(CEL):c.1966G>C (p.Ala656Pro)	rs587780309	0.00172
NM_002771.4(PRSS3):c.74T>C (p.Val25Ala)
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)	rs1553657429
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn)	rs1581573970

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.