ClinVar Miner

List of variants in gene FGFR1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.177C>T (p.Asp59=) rs367880371 0.00037
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_023110.3(FGFR1):c.394G>A (p.Asp132Asn) rs562958780 0.00011
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) rs201054877 0.00009
NM_023110.3(FGFR1):c.937-6T>G rs374904700 0.00005
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln) rs758138124
NM_023110.3(FGFR1):c.136C>T (p.His46Tyr)
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
NM_023110.3(FGFR1):c.2383G>A (p.Val795Ile)
NM_023110.3(FGFR1):c.285C>G (p.Asp95Glu) rs1822227427
NM_023110.3(FGFR1):c.92-10400G>A
NM_023110.3(FGFR1):c.92-6C>G

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.