ClinVar Miner

List of variants studied for hypogonadotropic hypogonadism by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (102):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000216.4(ANOS1):c.23_24del (p.Ala8fs) rs1602050730
NM_017780.4(CHD7):c.3688del (p.Ser1230fs)
NM_017780.4(CHD7):c.7184_7185del (p.Ser2395fs) rs1586452701
NM_023110.3(FGFR1):c.745+2T>A rs1586314855

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.