ClinVar Miner

List of variants in gene FGFR2 reported as pathogenic for Pfeiffer syndrome

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Total variants: 19
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HGVS dbSNP
NM_022970.3(FGFR2):c.1087+1216_1087+1225delinsACC
NM_022970.3(FGFR2):c.1087+1217A>G rs1057519041
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>A rs121918488
NM_022970.3(FGFR2):c.1087+1303T>C rs121918488
NM_022970.3(FGFR2):c.1087+1303T>G rs121918488
NM_022970.3(FGFR2):c.1087+1304G>A rs121918487
NM_022970.3(FGFR2):c.1087+1331C>G rs121918502
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.833G>T (p.Cys278Phe) rs776587763
NM_022970.3(FGFR2):c.864_881del (p.Ile288_Val294delinsMet) rs886037837
NM_022970.3(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_022970.3(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_022970.3(FGFR2):c.870G>T (p.Trp290Cys) rs121918499

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