ClinVar Miner

List of variants in gene FGF8 reported as uncertain significance for Kallmann syndrome

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu) rs137852660 0.00079
NM_033163.5(FGF8):c.686C>T (p.Thr229Met) rs137852664 0.00013
NM_033163.5(FGF8):c.451G>A (p.Gly151Ser) rs606231407 0.00002
NM_033163.5(FGF8):c.157-6C>G rs2065069146
NM_033163.5(FGF8):c.278A>G (p.His93Arg)
NM_033163.5(FGF8):c.335_337+2del rs2065066261

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.