ClinVar Miner

List of variants in gene FGFR2 reported as pathogenic for FGFR2 related craniosynostosis

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Total variants: 25
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HGVS dbSNP
NM_022970.3(FGFR2):c.1087+1217A>G rs1057519041
NM_022970.3(FGFR2):c.1087+1218G>A rs879253719
NM_022970.3(FGFR2):c.1087+1219G>T rs1358919643
NM_022970.3(FGFR2):c.1087+1262A>G rs121918493
NM_022970.3(FGFR2):c.1087+1303T>A rs121918488
NM_022970.3(FGFR2):c.1087+1303T>C rs121918488
NM_022970.3(FGFR2):c.1087+1304G>A rs121918487
NM_022970.3(FGFR2):c.1087+1304G>C rs121918487
NM_022970.3(FGFR2):c.1087+1304G>T rs121918487
NM_022970.3(FGFR2):c.1087+1305C>G rs121918496
NM_022970.3(FGFR2):c.1087+1311G>A rs121918491
NM_022970.3(FGFR2):c.1087+1319C>G rs121918494
NM_022970.3(FGFR2):c.1087+1331C>G rs121918502
NM_022970.3(FGFR2):c.1087+1340C>G rs121918490
NM_022970.3(FGFR2):c.1127A>G (p.Tyr376Cys) rs121913478
NM_022970.3(FGFR2):c.1153G>A (p.Gly385Arg) rs1554927408
NM_022970.3(FGFR2):c.1980G>C (p.Lys660Asn)
NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_022970.3(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_022970.3(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_022970.3(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_022970.3(FGFR2):c.833_834delinsTT (p.Cys278Phe) rs1057519037
NM_022970.3(FGFR2):c.868T>C (p.Trp290Arg) rs121918501
NM_022970.3(FGFR2):c.870G>T (p.Trp290Cys) rs121918499

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