ClinVar Miner

List of variants in gene FGFR2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 225
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.2301+1716A>G rs1649167 0.98736
NM_000141.5(FGFR2):c.749-183G>A rs2981447 0.89019
NM_000141.5(FGFR2):c.749-62G>A rs2981448 0.89018
NM_000141.5(FGFR2):c.2301+1186A>G rs3135814 0.74007
NM_000141.5(FGFR2):c.1987-106A>G rs2981460 0.67642
NM_000141.5(FGFR2):c.-150-388G>A rs3135718 0.54260
NM_000141.5(FGFR2):c.2302-1819T>A rs1799603 0.50482
NM_000141.5(FGFR2):c.2302-1838G>A rs3135817 0.49654
NM_000141.5(FGFR2):c.2057+256C>T rs2288336 0.46149
NM_000141.5(FGFR2):c.2301+15C>T rs2278202 0.45747
NM_000141.5(FGFR2):c.1987-99G>A rs2981461 0.45650
NM_000141.5(FGFR2):c.*259C>T rs1047057 0.43446
NM_000141.5(FGFR2):c.2301+1418G>A rs2556537 0.36303
NM_000141.5(FGFR2):c.2301+1829G>A rs1649166 0.32346
NM_000141.5(FGFR2):c.1864-125dup rs4647914 0.28147
NM_000141.5(FGFR2):c.749-112G>A rs2071616 0.25108
NM_000141.5(FGFR2):c.110-320A>G rs2912787 0.24382
NM_000141.5(FGFR2):c.110-179C>G rs2981452 0.20162
NM_000141.5(FGFR2):c.1987-238G>A rs1649199 0.19701
NM_000141.5(FGFR2):c.2302-1820A>T rs11598152 0.18425
NM_000141.5(FGFR2):c.1864-43del rs111564057 0.17733
NM_000141.5(FGFR2):c.624+139A>G rs3135745 0.14394
NM_000141.5(FGFR2):c.624+140T>C rs3135746 0.14357
NM_000141.5(FGFR2):c.-157A>G rs41258305 0.13622
NM_000141.5(FGFR2):c.2302-1826A>T rs11598153 0.12144
NM_000141.5(FGFR2):c.454+54T>C rs2303568 0.11730
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000141.5(FGFR2):c.455-315T>A rs3135743 0.10507
NM_000141.5(FGFR2):c.1288-161G>A rs3135772 0.10224
NC_000010.11:g.121598656C>T rs4478918 0.09309
NM_000141.5(FGFR2):c.376+213A>T rs7895493 0.07892
NC_000010.11:g.121598582C>G rs41301039 0.04689
NM_000141.5(FGFR2):c.-150-522C>T rs3135717 0.04383
NM_000141.5(FGFR2):c.2195+232G>A rs3135807 0.03826
NM_000141.5(FGFR2):c.2301+1596C>T rs3135816 0.03763
NM_000141.5(FGFR2):c.2196-346dup rs4647920 0.03411
NM_000141.5(FGFR2):c.2196-350G>A rs4647919 0.03297
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478 0.02240
NM_000141.5(FGFR2):c.110-26G>A rs3135733 0.02174
NM_000141.5(FGFR2):c.376+63G>A rs3135734 0.02173
NM_000141.5(FGFR2):c.1864-17T>G rs3135802 0.02120
NM_000141.5(FGFR2):c.2301+1823G>A rs57571942 0.02039
NM_000141.5(FGFR2):c.1561+333G>A rs3135785 0.01896
NM_000141.5(FGFR2):c.1085-222G>A rs41295565 0.01854
NM_000141.5(FGFR2):c.*469G>A rs41294351 0.01826
NM_000141.5(FGFR2):c.-458C>A rs41301043 0.01688
NM_000141.5(FGFR2):c.1439+174T>A rs41295593 0.01608
NM_000141.5(FGFR2):c.1440-231C>T rs3135782 0.01600
NM_000141.5(FGFR2):c.*403A>G rs3135826 0.01590
NM_000141.5(FGFR2):c.1288-23G>C rs3135774 0.01572
NM_000141.5(FGFR2):c.1085-256C>A rs4647918 0.01537
NM_000141.5(FGFR2):c.1863+199C>T rs17612814 0.01450
NM_000141.5(FGFR2):c.455-219C>T rs184026051 0.01446
NM_000141.5(FGFR2):c.1673-171C>T rs148685299 0.01385
NM_000141.5(FGFR2):c.2057+220A>T rs3135805 0.01343
NM_000141.5(FGFR2):c.110-54C>T rs3135732 0.01267
NM_000141.5(FGFR2):c.1440-248C>T rs41295621 0.01213
NM_000141.5(FGFR2):c.454+107G>A rs41302307 0.01173
NM_000141.5(FGFR2):c.1439+165A>G rs41295591 0.01109
NM_000141.5(FGFR2):c.1863+246A>G rs41293767 0.00932
NM_000141.5(FGFR2):c.1561+72A>G rs28702981 0.00858
NM_000141.5(FGFR2):c.109+10T>G rs3135722 0.00799
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_000141.5(FGFR2):c.939+982C>T rs41295555 0.00731
NM_000141.5(FGFR2):c.455-242G>A rs147906363 0.00577
NM_000141.5(FGFR2):c.1987-129T>C rs3135804 0.00564
NM_000141.5(FGFR2):c.2302-219C>A rs3135823 0.00553
NM_000141.5(FGFR2):c.749-27T>C rs41295547 0.00541
NM_000141.5(FGFR2):c.1987-165T>G rs74500478 0.00526
NM_000141.5(FGFR2):c.1987-166A>C rs79305817 0.00526
NM_000141.5(FGFR2):c.1673-273C>T rs181663041 0.00458
NM_000141.5(FGFR2):c.159G>A (p.Ala53=) rs1047102 0.00414
NM_000141.5(FGFR2):c.1288-158G>A rs3135773 0.00375
NM_000141.5(FGFR2):c.-150-132G>A rs41301563 0.00374
NM_000141.5(FGFR2):c.1672+336A>G rs527799074 0.00361
NM_000141.5(FGFR2):c.1672+181T>G rs41293747 0.00358
NM_000141.5(FGFR2):c.940-36C>T rs112692991 0.00320
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613 0.00298
NM_000141.5(FGFR2):c.1561+179T>C rs74160616 0.00292
NM_000141.5(FGFR2):c.1439+95A>G rs41295589 0.00277
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617 0.00234
NM_000141.5(FGFR2):c.-46G>A rs201606812 0.00193
NM_000141.5(FGFR2):c.2001C>G (p.Val667=) rs61731218 0.00187
NM_000141.5(FGFR2):c.1673-12C>T rs41293763 0.00186
NM_000141.5(FGFR2):c.-61G>T rs3135721 0.00130
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_000141.5(FGFR2):c.759T>G (p.Pro253=) rs3135755 0.00057
NM_000141.5(FGFR2):c.34G>A (p.Val12Met) rs143978938 0.00043
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244 0.00040
NM_000141.5(FGFR2):c.789G>A (p.Pro263=) rs138315382 0.00038
NM_000141.5(FGFR2):c.2232C>T (p.Pro744=) rs142639988 0.00035
NM_000141.5(FGFR2):c.1986+7C>T rs199697707 0.00032
NM_000141.5(FGFR2):c.1911C>T (p.Asn637=) rs149008039 0.00026
NM_000141.5(FGFR2):c.1085-13A>T rs41295573 0.00024
NM_000141.5(FGFR2):c.263T>C (p.Ile88Thr) rs200369248 0.00022
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000141.5(FGFR2):c.942C>T (p.Ala314=) rs201717227 0.00008
NM_000141.5(FGFR2):c.-6G>A rs772427122 0.00006
NM_000141.5(FGFR2):c.1362G>A (p.Thr454=) rs200183009 0.00006
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893 0.00006
NM_000141.5(FGFR2):c.420G>A (p.Ala140=) rs765024365 0.00006
NM_000141.5(FGFR2):c.306C>T (p.Ser102=) rs368662264 0.00005
NM_000141.5(FGFR2):c.2230C>T (p.Pro744Ser) rs747941020 0.00004
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=) rs558460047 0.00004
NM_000141.5(FGFR2):c.494G>A (p.Arg165Gln) rs146244307 0.00004
NM_000141.5(FGFR2):c.1086G>A (p.Ala362=) rs151250769 0.00003
NM_000141.5(FGFR2):c.1382C>T (p.Ala461Val) rs376451171 0.00003
NM_000141.5(FGFR2):c.362T>C (p.Met121Thr) rs748322657 0.00003
NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys) rs536181987 0.00002
NM_000141.5(FGFR2):c.1155C>G (p.Val385=) rs531426519 0.00001
NM_000141.5(FGFR2):c.1267C>T (p.Pro423Ser) rs1207716999 0.00001
NM_000141.5(FGFR2):c.1448T>C (p.Leu483Pro) rs767430380 0.00001
NM_000141.5(FGFR2):c.1637A>C (p.Asn546Thr) rs765658636 0.00001
NM_000141.5(FGFR2):c.2058-10T>C rs756377540 0.00001
NM_000141.5(FGFR2):c.2077A>G (p.Met693Val) rs774682374 0.00001
NM_000141.5(FGFR2):c.2189A>G (p.Asn730Ser) rs200453002 0.00001
NM_000141.5(FGFR2):c.2283C>T (p.Leu761=) rs753103160 0.00001
NM_000141.5(FGFR2):c.234C>T (p.His78=) rs778093907 0.00001
NM_000141.5(FGFR2):c.256G>A (p.Val86Met) rs1396687223 0.00001
NM_000141.5(FGFR2):c.376G>A (p.Asp126Asn) rs1057523040 0.00001
NM_000141.5(FGFR2):c.377-10T>C rs1253602922 0.00001
NM_000141.5(FGFR2):c.608G>A (p.Arg203His) rs747502397 0.00001
NM_000141.5(FGFR2):c.67C>A (p.Pro23Thr) rs1309596973 0.00001
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941 0.00001
NC_000010.11:g.121598531C>T rs753202350
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.-151+19G>T rs974988741
NM_000141.5(FGFR2):c.1001T>A (p.Phe334Tyr)
NM_000141.5(FGFR2):c.1019A>G (p.Tyr340Cys) rs1554928884
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.1024T>G (p.Cys342Gly) 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+20T>C rs1554928776
NM_000141.5(FGFR2):c.1084+3A>G rs879253721
NM_000141.5(FGFR2):c.109G>C (p.Glu37Gln)
NM_000141.5(FGFR2):c.110-195G>C rs529146683
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.1141T>G (p.Tyr381Asp) 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.1172T>G (p.Met391Arg) rs387906677
NM_000141.5(FGFR2):c.1173G>A (p.Met391Ile)
NM_000141.5(FGFR2):c.1207A>G (p.Thr403Ala)
NM_000141.5(FGFR2):c.1225T>G (p.Phe409Val)
NM_000141.5(FGFR2):c.1287+287GT[5] rs576981699
NM_000141.5(FGFR2):c.1342A>G (p.Thr448Ala)
NM_000141.5(FGFR2):c.1439+185dup rs11365153
NM_000141.5(FGFR2):c.149A>T (p.Tyr50Phe) rs1398842143
NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA rs2133978031
NM_000141.5(FGFR2):c.1623T>G (p.Ile541Met) rs1057524807
NM_000141.5(FGFR2):c.1646A>C (p.Asn549Thr)
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.1699G>A (p.Ala567Thr)
NM_000141.5(FGFR2):c.1718G>A (p.Arg573Gln) rs2133942636
NM_000141.5(FGFR2):c.1721_1732del (p.Glu574_Arg577del) rs2133941864
NM_000141.5(FGFR2):c.1723T>C (p.Tyr575His) rs2133942461
NM_000141.5(FGFR2):c.1757_1758delinsGA (p.Tyr586Ter) rs1554914180
NM_000141.5(FGFR2):c.17G>A (p.Arg6His) rs3750819
NM_000141.5(FGFR2):c.1808T>A (p.Leu603Ter)
NM_000141.5(FGFR2):c.1882G>A (p.Ala628Thr) rs121918509
NM_000141.5(FGFR2):c.1891A>G (p.Asn631Asp) rs2133838683
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.1942G>A (p.Ala648Thr) rs121918508
NM_000141.5(FGFR2):c.1977G>C (p.Lys659Asn) rs1589722765
NM_000141.5(FGFR2):c.1977G>T (p.Lys659Asn) rs1589722765
NM_000141.5(FGFR2):c.1A>G (p.Met1Val) rs774885289
NM_000141.5(FGFR2):c.2032A>G (p.Arg678Gly) rs1845559552
NM_000141.5(FGFR2):c.2057+114_2057+135del rs3214540
NM_000141.5(FGFR2):c.2195+75G>A rs1613776
NM_000141.5(FGFR2):c.2200A>T (p.Met734Leu)
NM_000141.5(FGFR2):c.2210G>C (p.Arg737Thr)
NM_000141.5(FGFR2):c.2328C>T (p.Leu776=) rs148478597
NM_000141.5(FGFR2):c.2368T>C (p.Cys790Arg) rs2133682792
NM_000141.5(FGFR2):c.2410C>T (p.Pro804Ser) rs575812178
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp) rs1277734487
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.5(FGFR2):c.318T>A (p.Ala106=)
NM_000141.5(FGFR2):c.326C>A (p.Ala109Asp)
NM_000141.5(FGFR2):c.376+259_376+261dup rs71865754
NM_000141.5(FGFR2):c.376+260_376+261dup rs71865754
NM_000141.5(FGFR2):c.376+261del rs71865754
NM_000141.5(FGFR2):c.376+261dup rs71865754
NM_000141.5(FGFR2):c.394G>C (p.Asp132His)
NM_000141.5(FGFR2):c.454+3A>G
NM_000141.5(FGFR2):c.514_515delinsTT (p.Ala172Phe)
NM_000141.5(FGFR2):c.544G>A (p.Gly182Arg)
NM_000141.5(FGFR2):c.544G>T (p.Gly182Trp)
NM_000141.5(FGFR2):c.56C>T (p.Ser19Phe)
NM_000141.5(FGFR2):c.589G>C (p.Glu197Gln)
NM_000141.5(FGFR2):c.624+70dup rs199542453
NM_000141.5(FGFR2):c.671C>G (p.Ser224Cys) rs2134606046
NM_000141.5(FGFR2):c.67C>G (p.Pro23Ala)
NM_000141.5(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_000141.5(FGFR2):c.715T>A (p.Ser239Thr)
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.781G>A (p.Gly261Arg) rs2134317947
NM_000141.5(FGFR2):c.796G>C (p.Ala266Pro) rs1375799439
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
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.842A>G (p.Tyr281Cys) rs1057519038
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.914G>T (p.Gly305Val) rs2134308697
NM_000141.5(FGFR2):c.939+923C>G rs41295553
NM_000141.5(FGFR2):c.940-2A>G rs1057519041
NM_000141.5(FGFR2):c.940G>T (p.Ala314Ser) rs1358919643
NM_000141.5(FGFR2):c.958A>G (p.Thr320Ala) rs2134260022
NM_000141.5(FGFR2):c.959C>T (p.Thr320Met) rs2134259953
NM_022970.4(FGFR2):c.984C>A (p.Phe328Leu)

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