ClinVar Miner

List of variants in gene FGFR2 reported as likely pathogenic for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly) rs1057519042
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1084+3A>G rs879253721
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1570A>G (p.Thr524Ala) rs1057520044
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) rs121918507
NM_000141.5(FGFR2):c.1645A>C (p.Asn549His) rs1057519045
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000141.5(FGFR2):c.1913A>C (p.Asn638Thr) rs777169135
NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg) rs1057519047
NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser)
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) rs121918498
NM_000141.5(FGFR2):c.764G>A (p.Arg255Gln) rs1850314485
NM_000141.5(FGFR2):c.811_812inv (p.Gly271Pro)
NM_000141.5(FGFR2):c.824_829dup (p.Phe276_Val277insGluPhe) rs1850299732
NM_000141.5(FGFR2):c.833_834delinsTA (p.Cys278Leu) rs1057519037
NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys) rs1057519038
NM_000141.5:c.940-19_940-18insAlu

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