ClinVar Miner

List of variants in gene FGFR2 reported as likely pathogenic

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly) rs1057519042
NM_000141.5(FGFR2):c.1012G>T (p.Gly338Trp) rs1057519043
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1021_1022insATT (p.Thr341delinsAsnSer) rs2134256765
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000141.5(FGFR2):c.1066T>G (p.Trp356Gly)
NM_000141.5(FGFR2):c.1075G>T (p.Val359Phe) rs1274989878
NM_000141.5(FGFR2):c.1084+1G>T rs2134253609
NM_000141.5(FGFR2):c.1084+3A>G rs879253721
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.1142A>G (p.Tyr381Cys) rs1064796452
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.1274G>A (p.Arg425Gln)
NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp) rs1554917471
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.1600G>A (p.Glu534Lys)
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.1645_1646delinsCT (p.Asn549Leu) rs1057519046
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.1693G>A (p.Glu565Lys)
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.1717C>T (p.Arg573Ter) rs1564875577
NM_000141.5(FGFR2):c.1757_1758delinsGA (p.Tyr586Ter) rs1554914180
NM_000141.5(FGFR2):c.1849T>A (p.Leu617Met) rs1057519796
NM_000141.5(FGFR2):c.185G>T (p.Cys62Phe)
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.1922A>G (p.Lys641Arg) rs1057519047
NM_000141.5(FGFR2):c.1925T>A (p.Ile642Lys) rs1064796413
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.1991G>A (p.Arg664Gln) rs1554907364
NM_000141.5(FGFR2):c.2021C>T (p.Ala674Val) rs1554907337
NM_000141.5(FGFR2):c.2032A>G (p.Arg678Gly) rs1845559552
NM_000141.5(FGFR2):c.2053G>T (p.Asp685Tyr) rs2133823028
NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser)
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.5(FGFR2):c.514_515delinsTT (p.Ala172Phe)
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.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu) rs77543610
NM_000141.5(FGFR2):c.764G>A (p.Arg255Gln) rs1850314485
NM_000141.5(FGFR2):c.811_812inv (p.Gly271Pro)
NM_000141.5(FGFR2):c.812G>T (p.Gly271Val) rs1564919048
NM_000141.5(FGFR2):c.812GAG[1] (p.Gly272del)
NM_000141.5(FGFR2):c.824_829dup (p.Phe276_Val277insGluPhe) rs1850299732
NM_000141.5(FGFR2):c.826T>G (p.Phe276Val) rs1057519036
NM_000141.5(FGFR2):c.833_834delinsTA (p.Cys278Leu) rs1057519037
NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys) rs1057519038
NM_000141.5(FGFR2):c.869G>T (p.Trp290Leu) rs1057519039
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.874A>G (p.Lys292Glu) rs121918500
NM_000141.5(FGFR2):c.929A>G (p.Lys310Arg) rs121913475
NM_000141.5(FGFR2):c.940-165_978del rs1554928978
NM_000141.5(FGFR2):c.958A>G (p.Thr320Ala) rs2134260022
NM_000141.5(FGFR2):c.963C>A (p.Asp321Glu)
NM_000141.5:c.940-19_940-18insAlu
NM_022970.4(FGFR2):c.959C>G (p.Ser320Cys) rs1057519791

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