ClinVar Miner

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

Included ClinVar conditions (5):
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Gene type:
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Total variants: 25
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HGVS dbSNP
NM_000141.4(FGFR2):c.1021A>C (p.Thr341Pro) rs121918495
NM_000141.4(FGFR2):c.1024T>A (p.Cys342Ser) rs121918488
NM_000141.4(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.4(FGFR2):c.1024T>G (p.Cys342Gly) rs121918488
NM_000141.4(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.4(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.4(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000141.4(FGFR2):c.1084+3A>G rs879253721
NM_000141.4(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.4(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.4(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.4(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.4(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.4(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.4(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_000141.4(FGFR2):c.818_820del (p.Asp273del) rs121918503
NM_000141.4(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_000141.4(FGFR2):c.864_881del (p.Ile288_Val294delinsMet) rs886037837
NM_000141.4(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_000141.4(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_000141.4(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.4(FGFR2):c.940-1G>A rs879253719
NM_000141.4(FGFR2):c.940-2A>G rs1057519041
NM_000141.4(FGFR2):c.940-3_946delinsACC
NM_000141.4(FGFR2):c.962A>C (p.Asp321Ala) rs121918510

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