List of variants in gene TSHR reported as benign for Familial hyperthyroidism due to mutations in TSH receptor

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

Total variants: 48

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HGVS	dbSNP	gnomAD frequency
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp)	rs1991517	0.90865
NM_000369.5(TSHR):c.*1152T>A	rs2288494	0.85456
NM_000369.5(TSHR):c.*245C>T	rs7144481	0.85116
NM_000369.5(TSHR):c.692+163A>G	rs3783942	0.63598
NM_000369.5(TSHR):c.692+209C>A	rs3783941	0.62312
NM_000369.5(TSHR):c.*1417T>C	rs2288496	0.39155
NM_000369.5(TSHR):c.*1222G>C	rs2288495	0.39107
NM_000369.5(TSHR):c.*431T>C	rs17630128	0.26762
NM_000369.5(TSHR):c.561T>C (p.Asn187=)	rs2075179	0.26593
NM_000369.5(TSHR):c.545+13A>G	rs2241119	0.26331
NM_000369.5(TSHR):c.*172C>A	rs2268477	0.16427
NM_000369.5(TSHR):c.*909C>T	rs2288493	0.15203
NM_000369.5(TSHR):c.*1813T>A	rs58832257	0.02711
NM_000369.5(TSHR):c.*474G>T	rs61266735	0.02495
NM_000369.5(TSHR):c.2232C>G (p.Asn744Lys)	rs61743974	0.01750
NM_000369.5(TSHR):c.*18C>A	rs77789619	0.01748
NM_000369.5(TSHR):c.692+49T>C	rs28636074	0.01441
NM_000369.5(TSHR):c.*1289A>G	rs150122093	0.01236
NM_000369.5(TSHR):c.*960T>C	rs142517342	0.00759
NM_000369.5(TSHR):c.*728A>G	rs73342245	0.00532
NM_000369.5(TSHR):c.*1695T>C	rs112187344	0.00326
NM_000369.5(TSHR):c.*1580A>G	rs189084497	0.00313
NM_000369.5(TSHR):c.881+3A>G	rs186091357	0.00298
NM_000369.5(TSHR):c.171-11T>C	rs145265345	0.00266
NM_000369.5(TSHR):c.*1807T>A	rs183029344	0.00200
NM_000369.5(TSHR):c.357T>A (p.Pro119=)	rs144084915	0.00168
NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys)	rs150602845	0.00132
NM_000369.5(TSHR):c.929G>A (p.Arg310His)	rs139286618	0.00122
NM_000369.5(TSHR):c.1971C>T (p.Ser657=)	rs143773384	0.00116
NM_000369.5(TSHR):c.*249A>C	rs140533848	0.00090
NM_000369.5(TSHR):c.1290G>A (p.Leu430=)	rs375393735	0.00039
NM_000369.5(TSHR):c.2161G>T (p.Val721Phe)	rs61745409	0.00035
NM_000369.5(TSHR):c.735C>G (p.Gly245=)	rs146738314	0.00018
NM_000369.5(TSHR):c.1621A>G (p.Ile541Val)	rs747680932	0.00014
NM_000369.5(TSHR):c.1341C>T (p.Asn447=)	rs777698828	0.00011
NM_000369.5(TSHR):c.915T>A (p.Ser305Arg)	rs142122217	0.00007
NM_000369.5(TSHR):c.*182G>T	rs373305430	0.00005
NM_000369.5(TSHR):c.611C>T (p.Ala204Val)	rs760702366	0.00002
NM_000369.5(TSHR):c.733G>A (p.Gly245Ser)	rs189506473	0.00002
NM_000369.5(TSHR):c.891G>A (p.Glu297=)	rs765027542	0.00002
NM_000369.5(TSHR):c.1656C>T (p.Leu552=)	rs746360455	0.00001
NM_000369.5(TSHR):c.692+3G>A	rs552128204	0.00001
NM_000369.5(TSHR):c.*1106G>T	rs150923034
NM_000369.5(TSHR):c.*1946C>T	rs187891791
NM_000369.5(TSHR):c.1377G>A (p.Ala459=)	rs113951800
NM_000369.5(TSHR):c.1429A>C (p.Thr477Pro)	rs1595178231
NM_000369.5(TSHR):c.2034T>C (p.Tyr678=)	rs370709283
NM_000369.5(TSHR):c.692+48T>A	rs28516678

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