ClinVar Miner

List of variants in gene FGFR2 reported as likely pathogenic by Database of Curated Mutations (DoCM)

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1115C>G (p.Ser372Cys) rs121913477
NM_000141.5(FGFR2):c.1121A>G (p.Asp374Gly) rs1057520028
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1141T>C (p.Tyr381His) rs387906678
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg) rs121913474
NM_000141.5(FGFR2):c.1145G>A (p.Cys382Tyr) rs1057519900
NM_000141.5(FGFR2):c.1570A>G (p.Thr524Ala) rs1057520044
NM_000141.5(FGFR2):c.1605G>A (p.Met535Ile) rs1057519800
NM_000141.5(FGFR2):c.1605G>C (p.Met535Ile) rs1057519800
NM_000141.5(FGFR2):c.1605G>T (p.Met535Ile) rs1057519800
NM_000141.5(FGFR2):c.1611G>A (p.Met537Ile) rs1057519799
NM_000141.5(FGFR2):c.1611G>C (p.Met537Ile) rs1057519799
NM_000141.5(FGFR2):c.1611G>T (p.Met537Ile) rs1057519799
NM_000141.5(FGFR2):c.1639A>G (p.Ile547Val) rs1057519798
NM_000141.5(FGFR2):c.1642A>C (p.Ile548Leu) rs1057519901
NM_000141.5(FGFR2):c.1645A>C (p.Asn549His) rs1057519045
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys) rs121913476
NM_000141.5(FGFR2):c.1647T>G (p.Asn549Lys) rs121913476
NM_000141.5(FGFR2):c.1690G>A (p.Val564Ile) rs1057519797
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.1849T>A (p.Leu617Met) rs1057519796
NM_000141.5(FGFR2):c.1913A>C (p.Asn638Thr) rs777169135
NM_000141.5(FGFR2):c.1914T>A (p.Asn638Lys) rs1057519854
NM_000141.5(FGFR2):c.1972A>G (p.Lys658Glu) rs1057520027
NM_000141.5(FGFR2):c.1974A>T (p.Lys658Asn) rs1057520029
NM_000141.5(FGFR2):c.1975A>G (p.Lys659Glu) rs1057519795
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.870G>C (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.929A>G (p.Lys310Arg) rs121913475
NM_022970.4(FGFR2):c.959C>G (p.Ser320Cys) rs1057519791

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