ClinVar Miner

List of variants reported as pathogenic for Crouzon syndrome

Included ClinVar conditions (6):
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) rs121918492 0.00001
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly) rs1057519042
NM_000141.5(FGFR2):c.1009G>C (p.Ala337Pro) rs387906676
NM_000141.5(FGFR2):c.1012G>C (p.Gly338Arg) rs1057519043
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His) rs121918489
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) rs121918488
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) rs121918487
NM_000141.5(FGFR2):c.1026C>G (p.Cys342Trp) rs121918496
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys) rs121918490
NM_000141.5(FGFR2):c.1084+3A>G rs879253721
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) rs121918507
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_000141.5(FGFR2):c.812G>T (p.Gly271Val) rs1564919048
NM_000141.5(FGFR2):c.826T>G (p.Phe276Val) rs1057519036
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg) rs121918501
NM_000141.5(FGFR2):c.868T>G (p.Trp290Gly) rs121918501
NM_000141.5(FGFR2):c.869G>C (p.Trp290Ser) rs1057519039
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.874A>G (p.Lys292Glu) rs121918500
NM_000141.5(FGFR2):c.923A>G (p.Tyr308Cys) rs1057519040
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys) rs121918493
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_001371623.1(TCOF1):c.3973dup (p.Glu1325fs) rs1554080460

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