List of variants reported as pathogenic for Familial hyperthyroidism due to mutations in TSH receptor

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000369.5(TSHR):c.122G>C (p.Cys41Ser)	rs121908869	0.00001
NM_000369.5(TSHR):c.1291G>A (p.Gly431Ser)	rs121908883
NM_000369.5(TSHR):c.1358T>C (p.Met453Thr)	rs121908864
NM_000369.5(TSHR):c.1514G>A (p.Ser505Asn)	rs121908876
NM_000369.5(TSHR):c.1526T>C (p.Val509Ala)	rs121908874
NM_000369.5(TSHR):c.1887G>T (p.Leu629Phe)	rs121908877
NM_000369.5(TSHR):c.1891T>C (p.Phe631Leu)	rs121908861
NM_000369.5(TSHR):c.1915C>T (p.Pro639Ser)	rs121908880
NM_000369.5(TSHR):c.2015G>A (p.Cys672Tyr)	rs121908875
NM_000369.5(TSHR):c.842G>A (p.Ser281Asn)	rs121908873

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.