ClinVar Miner

List of variants in gene FGFR3 reported as likely benign for Craniosynostosis syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000142.4(FGFR3):c.1267-8C>T rs1553847171
NM_000142.4(FGFR3):c.1513G>A (p.Val505Ile) rs144546453
NM_000142.4(FGFR3):c.154G>A (p.Gly52Ser) rs140087676
NM_000142.4(FGFR3):c.1645+8C>T rs372987620
NM_000142.4(FGFR3):c.1645+9G>A rs376263017
NM_000142.4(FGFR3):c.1899C>T (p.Ile633=) rs748492424
NM_000142.4(FGFR3):c.192C>T (p.Pro64=) rs766462409
NM_000142.4(FGFR3):c.1960-7C>T rs779177992
NM_000142.4(FGFR3):c.2275-3C>T rs770863154
NM_000142.4(FGFR3):c.2331C>T (p.Thr777=) rs189264142
NM_000142.4(FGFR3):c.2412G>A (p.Ser804=) rs375563964
NM_000142.4(FGFR3):c.513C>T (p.Thr171=) rs373209526
NM_000142.4(FGFR3):c.775C>T (p.Leu259=) rs765971064
NM_000142.4(FGFR3):c.879G>C (p.Val293=) rs757808716
NM_000142.5(FGFR3):c.1371C>T (p.Leu457=) rs199758988
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740
NM_000142.5(FGFR3):c.169G>A (p.Val57Met) rs61735064
NM_000142.5(FGFR3):c.1953= (p.Thr651=) rs7688609
NM_000142.5(FGFR3):c.201T>C (p.Gly67=) rs752621056
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr) rs17882190
NM_000142.5(FGFR3):c.807C>T (p.Ser269=) rs199614237

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.