ClinVar Miner

List of variants in gene THRB reported as likely pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001354712.2(THRB):c.1045G>A (p.Val349Met)
NM_001354712.2(THRB):c.1287GAT[1] (p.Met430del) rs2031967126
NM_001354712.2(THRB):c.1324A>G (p.Met442Val) rs121918691
NM_001354712.2(THRB):c.1345G>T (p.Glu449Ter) rs1553609157
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala) rs121918704
NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys) rs1553609090
NM_001354712.2(THRB):c.749T>C (p.Ile250Thr) rs1559415720
NM_001354712.2(THRB):c.751G>C (p.Gly251Arg) rs1553613123
NM_001354712.2(THRB):c.949G>T (p.Ala317Ser) rs121918690
NM_001354712.2(THRB):c.997G>A (p.Glu333Lys) rs2148833747

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.