ClinVar Miner

List of variants in gene FGFR2 studied for craniosynostosis

Included ClinVar conditions (87):
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Gene type:
ClinVar version:
Total variants: 210
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.2301+15C>T rs2278202 0.45747
NM_000141.5(FGFR2):c.*259C>T rs1047057 0.43446
NM_000141.5(FGFR2):c.-157A>G rs41258305 0.13622
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000141.5(FGFR2):c.-318G>C rs41301547 0.02864
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478 0.02240
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.*403A>G rs3135826 0.01590
NM_000141.5(FGFR2):c.*1319A>G rs3135830 0.01380
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.159G>A (p.Ala53=) rs1047102 0.00414
NM_000141.5(FGFR2):c.*324A>G rs150519853 0.00402
NM_000141.5(FGFR2):c.*184C>T rs4647917 0.00359
NM_000141.5(FGFR2):c.-358C>T rs41301545 0.00345
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613 0.00298
NM_000141.5(FGFR2):c.-74G>A rs4647922 0.00294
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.*111G>A rs574474794 0.00164
NM_000141.5(FGFR2):c.*1301C>T rs71640261 0.00159
NM_000141.5(FGFR2):c.454+14C>T rs112142377 0.00152
NM_000141.5(FGFR2):c.939+11T>C rs145303463 0.00134
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.2190C>T (p.Asn730=) rs55637244 0.00040
NM_000141.5(FGFR2):c.2232C>T (p.Pro744=) rs142639988 0.00035
NM_000141.5(FGFR2):c.-135C>T rs554557891 0.00033
NM_000141.5(FGFR2):c.1986+7C>T rs199697707 0.00032
NM_000141.5(FGFR2):c.*674G>T rs566155088 0.00029
NM_000141.5(FGFR2):c.-165G>A rs886046766 0.00029
NM_000141.5(FGFR2):c.*921G>A rs185617859 0.00027
NM_000141.5(FGFR2):c.1761C>T (p.Ser587=) rs147173572 0.00027
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.64C>T (p.Arg22Trp) rs377570596 0.00023
NM_000141.5(FGFR2):c.-173G>A rs540975865 0.00019
NM_000141.5(FGFR2):c.-622G>A rs886046768 0.00014
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882 0.00012
NM_000141.5(FGFR2):c.748+18C>T rs377269009 0.00012
NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro) rs368003279 0.00011
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_000141.5(FGFR2):c.625-10A>G rs201512833 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000141.5(FGFR2):c.-237C>A rs1013618217 0.00010
NM_000141.5(FGFR2):c.454+15G>A rs200275522 0.00010
NM_000141.5(FGFR2):c.33C>T (p.Val11=) rs200562301 0.00009
NM_000141.5(FGFR2):c.182G>A (p.Arg61His) rs199575491 0.00007
NM_000141.5(FGFR2):c.-371C>T rs527570655 0.00006
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893 0.00006
NM_000141.5(FGFR2):c.201C>T (p.Ala67=) rs200386134 0.00006
NM_000141.5(FGFR2):c.420G>A (p.Ala140=) rs765024365 0.00006
NM_000141.5(FGFR2):c.*736dup rs886046762 0.00005
NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys) rs141724446 0.00005
NM_000141.5(FGFR2):c.780C>T (p.Ala260=) rs778288494 0.00005
NM_000141.5(FGFR2):c.*874A>G rs55723405 0.00004
NM_000141.5(FGFR2):c.-535G>C rs886046767 0.00004
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=) rs558460047 0.00004
NM_000141.5(FGFR2):c.*1126T>C rs370106008 0.00003
NM_000141.5(FGFR2):c.*1489C>T rs886046757 0.00003
NM_000141.5(FGFR2):c.*463A>G rs373313930 0.00003
NM_000141.5(FGFR2):c.*730G>C rs549293047 0.00003
NM_000141.5(FGFR2):c.-206C>A rs1238787517 0.00003
NM_000141.5(FGFR2):c.1086G>A (p.Ala362=) rs151250769 0.00003
NM_000141.5(FGFR2):c.1545C>T (p.Ala515=) rs778789088 0.00003
NM_000141.5(FGFR2):c.362T>C (p.Met121Thr) rs748322657 0.00003
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) rs747171741 0.00003
NM_000141.4(FGFR2):c.*1539C>A rs1194799333 0.00002
NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val) rs757846343 0.00002
NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu) rs372348666 0.00002
NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu) rs757125418 0.00002
NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys) rs536181987 0.00002
NM_000141.5(FGFR2):c.1561+6C>T rs781352732 0.00002
NM_000141.5(FGFR2):c.879C>T (p.His293=) rs55745510 0.00002
NM_000141.5(FGFR2):c.*1369C>T rs886046759 0.00001
NM_000141.5(FGFR2):c.*497T>C rs3135827 0.00001
NM_000141.5(FGFR2):c.-128G>A rs547739869 0.00001
NM_000141.5(FGFR2):c.-129C>T rs886046765 0.00001
NM_000141.5(FGFR2):c.-196G>A rs1457119353 0.00001
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) rs121918492 0.00001
NM_000141.5(FGFR2):c.1155C>G (p.Val385=) rs531426519 0.00001
NM_000141.5(FGFR2):c.1167C>G (p.Ala389=) rs757648006 0.00001
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=) rs147674677 0.00001
NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr) rs769880096 0.00001
NM_000141.5(FGFR2):c.1335G>T (p.Val445=) rs1460282965 0.00001
NM_000141.5(FGFR2):c.138A>C (p.Gln46His) rs748117555 0.00001
NM_000141.5(FGFR2):c.1562-11A>G rs41293744 0.00001
NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly) rs55689343 0.00001
NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser) rs962103382 0.00001
NM_000141.5(FGFR2):c.204C>T (p.Ala68=) rs747982371 0.00001
NM_000141.5(FGFR2):c.2077A>G (p.Met693Val) rs774682374 0.00001
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941 0.00001
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) rs779326224 0.00001
NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn) rs370877537 0.00001
NM_000141.5(FGFR2):c.*1070T>C rs886046761
NM_000141.5(FGFR2):c.*1240A>C rs1403038230
NM_000141.5(FGFR2):c.*1283C>G rs1844298421
NM_000141.5(FGFR2):c.*1287A>C rs886046760
NM_000141.5(FGFR2):c.*1402T>C rs886046758
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*256G>A rs763095219
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.-108C>T rs540720034
NM_000141.5(FGFR2):c.-17G>C rs766629665
NM_000141.5(FGFR2):c.-236G>A rs1047111
NM_000141.5(FGFR2):c.-236G>C rs1047111
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.-590G>C rs1221108798
NM_000141.5(FGFR2):c.-603C>T rs1863754113
NM_000141.5(FGFR2):c.-626C>A rs549524538
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.1021A>C (p.Thr341Pro) rs121918495
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.1025G>T (p.Cys342Phe) 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.1061C>T (p.Ser354Phe) rs121918490
NM_000141.5(FGFR2):c.1084+3A>G rs879253721
NM_000141.5(FGFR2):c.1085-6A>G rs2134232051
NM_000141.5(FGFR2):c.1093A>C (p.Arg365=) rs1849564914
NM_000141.5(FGFR2):c.110-22TC[3] rs773932794
NM_000141.5(FGFR2):c.1115C>G (p.Ser372Cys) rs121913477
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.1179A>T (p.Val393=) rs886046763
NM_000141.5(FGFR2):c.1356T>A (p.Ser452=) rs2134060289
NM_000141.5(FGFR2):c.1485G>T (p.Val495=) rs1362401352
NM_000141.5(FGFR2):c.1539C>A (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA rs2133978031
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.1700C>T (p.Ala567Val) rs2133943742
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp) rs1564875549
NM_000141.5(FGFR2):c.1746C>T (p.Pro582=) rs369850306
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.1960A>G (p.Ile654Val) rs747718232
NM_000141.5(FGFR2):c.1987-20A>T rs772633227
NM_000141.5(FGFR2):c.2045A>G (p.His682Arg) rs1845557012
NM_000141.5(FGFR2):c.2096T>C (p.Leu699Ser)
NM_000141.5(FGFR2):c.2152G>C (p.Glu718Gln) rs1589713974
NM_000141.5(FGFR2):c.2177C>G (p.Ala726Gly) rs1458081920
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs) rs771208561
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.351T>C (p.Thr117=) rs886046764
NM_000141.5(FGFR2):c.390C>G (p.Ser130=) rs1029635273
NM_000141.5(FGFR2):c.625-8C>T rs1853240523
NM_000141.5(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_000141.5(FGFR2):c.714G>A (p.Gly238=) rs1276387170
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.756_758delinsCTT (p.Pro253Phe) rs387907372
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.781G>A (p.Gly261Arg) rs2134317947
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del) rs879253718
NM_000141.5(FGFR2):c.811_812inv (p.Gly271Pro)
NM_000141.5(FGFR2):c.812G>T (p.Gly271Val) rs1564919048
NM_000141.5(FGFR2):c.818_820del (p.Asp273del) rs121918503
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.833G>T (p.Cys278Phe) rs776587763
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.859_921del (p.His287_Pro307del) rs1554930637
NM_000141.5(FGFR2):c.864_881del (p.Ile288_Val294delinsMet) rs886037837
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>C (p.Trp290Cys) rs121918499
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.877C>T (p.His293Tyr) rs748526473
NM_000141.5(FGFR2):c.91A>T (p.Thr31Ser) rs1863017903
NM_000141.5(FGFR2):c.923A>G (p.Tyr308Cys) rs1057519040
NM_000141.5(FGFR2):c.940-1G>A rs879253719
NM_000141.5(FGFR2):c.940-2A>C rs1057519041
NM_000141.5(FGFR2):c.940-2A>G rs1057519041
NM_000141.5(FGFR2):c.940-3_946delinsACC rs1589828632
NM_000141.5(FGFR2):c.943G>A (p.Ala315Thr)
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala) rs121918510
NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys) rs121918493
NM_000141.5:c.1040_1041ins[N[360];1026_1040]
NM_000141.5:c.940-19_940-18insAlu

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