ClinVar Miner

Variants in gene FGFR1 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.1880G>C (p.Arg627Thr) rs869025671
NM_023110.3(FGFR1):c.565C>T (p.Arg189Cys) rs863223331
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp) rs1246231808

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.