ClinVar Miner

List of variants in gene FGFR2 reported as uncertain significance for EEC syndrome and related syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000141.4(FGFR2):c.*1070T>C rs886046761
NM_000141.4(FGFR2):c.*1126T>C rs370106008
NM_000141.4(FGFR2):c.*1287A>C rs886046760
NM_000141.4(FGFR2):c.*1369C>T rs886046759
NM_000141.4(FGFR2):c.*1402T>C rs886046758
NM_000141.4(FGFR2):c.*1489C>T rs886046757
NM_000141.4(FGFR2):c.*497T>C rs3135827
NM_000141.4(FGFR2):c.*674G>T rs566155088
NM_000141.4(FGFR2):c.*736dupA rs886046762
NM_000141.4(FGFR2):c.-128G>A rs547739869
NM_000141.4(FGFR2):c.-129C>T rs886046765
NM_000141.4(FGFR2):c.-165G>A rs886046766
NM_000141.4(FGFR2):c.-371C>T rs527570655
NM_000141.4(FGFR2):c.-535G>C rs886046767
NM_000141.4(FGFR2):c.-622G>A rs886046768
NM_000141.4(FGFR2):c.110-16_110-15delTC rs773932794
NM_000141.4(FGFR2):c.1179A>T (p.Val393=) rs886046763
NM_000141.4(FGFR2):c.1539C>A (p.Thr513=) rs74160617
NM_000141.4(FGFR2):c.1562-11A>G rs41293744
NM_000141.4(FGFR2):c.204C>T (p.Ala68=) rs747982371
NM_000141.4(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.4(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_000141.4(FGFR2):c.989G>A (p.Arg330Gln)

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.