List of variants reported as uncertain significance for Familial hyperthyroidism due to mutations in TSH receptor by Illumina Laboratory Services, Illumina

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: 34

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000369.5(TSHR):c.*400T>C	rs143040631	0.00073
NM_000369.5(TSHR):c.*1262C>T	rs879662665	0.00016
NM_000369.5(TSHR):c.1583G>A (p.Arg528His)	rs571893270	0.00008
NM_000369.5(TSHR):c.765A>G (p.Arg255=)	rs777128238	0.00006
NM_000369.5(TSHR):c.2154T>C (p.Asp718=)	rs760284465	0.00004
NM_000369.5(TSHR):c.*1053T>C	rs995485227	0.00003
NM_000369.5(TSHR):c.*1620C>G	rs886050860	0.00003
NM_000369.5(TSHR):c.*1742G>T	rs886050861	0.00003
NM_000369.5(TSHR):c.*458G>T	rs1490089193	0.00003
NM_000369.5(TSHR):c.*1496A>G	rs997932391	0.00002
NM_000369.5(TSHR):c.*1559C>T	rs1176236513	0.00002
NM_000369.5(TSHR):c.*319G>A	rs886050857	0.00002
NM_000369.2(TSHR):c.-166C>T	rs1180169266	0.00001
NM_000369.5(TSHR):c.*116G>A	rs554104473	0.00001
NM_000369.5(TSHR):c.*125A>G	rs886050855	0.00001
NM_000369.5(TSHR):c.*1486C>T	rs1891908275	0.00001
NM_000369.5(TSHR):c.*1898A>G	rs886050862	0.00001
NM_000369.5(TSHR):c.1222T>C (p.Cys408Arg)	rs199702292	0.00001
NM_000369.5(TSHR):c.1479G>A (p.Gly493=)	rs757106859	0.00001
NM_000369.5(TSHR):c.157A>C (p.Ser53Arg)	rs886050853	0.00001
NM_000369.5(TSHR):c.190C>T (p.Leu64=)	rs1886292055	0.00001
NM_000369.5(TSHR):c.2257G>A (p.Gly753Ser)	rs763398101	0.00001
NM_000369.5(TSHR):c.615-6C>G	rs886050854	0.00001
NM_000369.2(TSHR):c.-102C>T	rs1886616129
NM_000369.5(TSHR):c.*1317C>A	rs886050859
NM_000369.5(TSHR):c.*137del	rs886050856
NM_000369.5(TSHR):c.*1845T>G	rs1891920836
NM_000369.5(TSHR):c.*242C>T	rs1891860763
NM_000369.5(TSHR):c.1191G>T (p.Val397=)	rs781406064
NM_000369.5(TSHR):c.1270G>A (p.Val424Ile)	rs587778742
NM_000369.5(TSHR):c.197C>A (p.Thr66Asn)	rs1886292569
NM_000369.5(TSHR):c.406A>G (p.Thr136Ala)	rs1888697548
NM_000369.5(TSHR):c.756G>C (p.Leu252=)	rs1891604075
NM_000369.5(TSHR):c.758T>C (p.Ile253Thr)	rs1891604207

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.