ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP
NM_022970.3(FGFR2):c.1087+1262A>G rs121918493
NM_022970.3(FGFR2):c.1087+1286A>G rs1057519042
NM_022970.3(FGFR2):c.1087+1288G>C rs387906676
NM_022970.3(FGFR2):c.1087+1291G>C rs1057519043
NM_022970.3(FGFR2):c.1087+1292G>A rs1057519044
NM_022970.3(FGFR2):c.1087+1297T>C rs121918489
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+1305C>G rs121918496
NM_022970.3(FGFR2):c.1087+1310C>G rs121918492
NM_022970.3(FGFR2):c.1087+1311G>A rs121918491
NM_022970.3(FGFR2):c.1087+1319C>G rs121918494
NM_022970.3(FGFR2):c.1087+1340C>G rs121918490
NM_022970.3(FGFR2):c.1087+1366A>G rs879253721
NM_022970.3(FGFR2):c.1579A>G (p.Lys527Glu) rs121918507
NM_022970.3(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_022970.3(FGFR2):c.826T>G (p.Phe276Val) rs1057519036
NM_022970.3(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_022970.3(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_022970.3(FGFR2):c.868T>C (p.Trp290Arg) rs121918501
NM_022970.3(FGFR2):c.868T>G (p.Trp290Gly) rs121918501
NM_022970.3(FGFR2):c.869G>C (p.Trp290Ser) rs1057519039
NM_022970.3(FGFR2):c.874A>G (p.Lys292Glu) rs121918500
NM_022970.3(FGFR2):c.923A>G (p.Tyr308Cys) rs1057519040

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