ClinVar Miner

List of variants studied for Pfeiffer syndrome by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_022970.3(FGFR2):c.1087+1218G>A rs879253719
NM_022970.3(FGFR2):c.1087+1241A>C rs121918510
NM_022970.3(FGFR2):c.1087+1300A>C rs121918495
NM_022970.3(FGFR2):c.1087+1303T>C rs121918488
NM_022970.3(FGFR2):c.1087+1304G>A rs121918487
NM_022970.3(FGFR2):c.1087+1366A>G rs879253721
NM_022970.3(FGFR2):c.1697A>C (p.Glu566Ala) rs121918506
NM_022970.3(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_022970.3(FGFR2):c.818_820del (p.Asp273del) rs121918503
NM_022970.3(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_022970.3(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) rs121909627

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.