ClinVar Miner

List of variants reported as likely pathogenic for Pfeiffer syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_022970.3(FGFR2):c.1087+1292G>A rs1057519044
NM_022970.3(FGFR2):c.1697A>C (p.Glu566Ala) rs121918506
NM_022970.3(FGFR2):c.1697A>G (p.Glu566Gly) rs121918506
NM_022970.3(FGFR2):c.1925A>G (p.Lys642Arg) rs1057519047
NM_022970.3(FGFR2):c.833_834delinsTA (p.Cys278Leu) rs1057519037
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.2(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.2(FGFR1):c.448+1G>A

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.