ClinVar Miner

List of variants in gene SOX3 studied for combined pituitary hormone deficiencies, genetic form

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005634.3(SOX3):c.946G>A (p.Gly316Ser) rs374950908 0.00019
NM_005634.3(SOX3):c.753G>C (p.Pro251=) rs557384424 0.00001
NM_005634.3(SOX3):c.331G>A (p.Ala111Thr)
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del) rs776775669
NM_005634.3(SOX3):c.711_731dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAla) rs776775669
NM_005634.3(SOX3):c.729_731dup (p.Ala248dup) rs763403187
SOX3, DUP

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.