ClinVar Miner

List of variants in gene FGFR3 reported by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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_000142.5(FGFR3):c.1618A>G (p.Asn540Asp) rs1057519049 0.00001
NM_000142.5(FGFR3):c.739G>A (p.Glu247Lys) rs565612580 0.00001
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.1331C>G (p.Ser444Cys) rs761325047
NM_000142.5(FGFR3):c.1480A>G (p.Ile494Val) rs1057519048
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924

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.