ClinVar Miner

List of variants in gene FGFR3 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 267
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.-102-3T>C rs10023340 0.99671
NM_000142.5(FGFR3):c.931-123G>A rs3135883 0.91705
NM_000142.5(FGFR3):c.930+625G>A rs3135878 0.82366
NM_000142.5(FGFR3):c.-103+129C>A rs4450996 0.59323
NM_000142.5(FGFR3):c.616-40T>C rs2305183 0.21932
NM_000142.5(FGFR3):c.882T>C (p.Asn294=) rs2234909 0.20412
NM_000142.5(FGFR3):c.930+72C>G rs2305184 0.19439
NM_000142.5(FGFR3):c.109+309C>T rs3135834 0.10213
NM_000142.5(FGFR3):c.445+3A>G rs3135868 0.09950
NM_000142.5(FGFR3):c.1267-32C>T rs3135890 0.09901
NM_000142.5(FGFR3):c.603T>C (p.Ile201=) rs2305181 0.09854
NM_000142.5(FGFR3):c.445+158T>C rs3135869 0.08952
NM_000142.5(FGFR3):c.1953= (p.Thr651=) rs7688609 0.04271
NM_000142.5(FGFR3):c.*184C>T rs3135901 0.04173
NM_000142.5(FGFR3):c.417C>T (p.Asp139=) rs3135867 0.03551
NM_000142.5(FGFR3):c.1075+236T>C rs3135888 0.03378
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_000142.5(FGFR3):c.930+174T>C rs3135874 0.02902
NM_000142.5(FGFR3):c.109+174T>C rs17884005 0.02494
NM_000142.5(FGFR3):c.*36A>G rs3135900 0.02388
NM_000142.5(FGFR3):c.615+8C>G rs17878375 0.02283
NM_000142.5(FGFR3):c.1076-17C>T rs17881967 0.02051
NM_000142.5(FGFR3):c.380-101G>C rs3135866 0.01766
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_000142.5(FGFR3):c.1959+22G>A rs3135898 0.01743
NM_000142.5(FGFR3):c.1075+185G>A rs3135887 0.01661
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_000142.5(FGFR3):c.2169-33G>A rs3135899 0.01105
NM_000142.5(FGFR3):c.109+26G>A rs17884282 0.00910
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_000142.5(FGFR3):c.1836+44C>T rs17878554 0.00809
NM_000142.5(FGFR3):c.931-470C>T rs377192087 0.00786
NM_000142.5(FGFR3):c.446-126C>T rs368240567 0.00754
NM_000142.5(FGFR3):c.445+78C>T rs184080582 0.00744
NM_000142.5(FGFR3):c.*138C>T rs73202816 0.00739
NM_000142.5(FGFR3):c.110-218C>T rs149321012 0.00704
NM_000142.5(FGFR3):c.654G>C (p.Val218=) rs147769045 0.00703
NM_000142.5(FGFR3):c.1076-13C>T rs114754024 0.00661
NM_000142.5(FGFR3):c.1266+64C>T rs78940694 0.00626
NM_000142.5(FGFR3):c.1645+15G>A rs192433202 0.00533
NM_000142.5(FGFR3):c.1075+168C>T rs115088677 0.00503
NM_000142.5(FGFR3):c.616-15C>T rs17883683 0.00494
NM_000142.5(FGFR3):c.663G>A (p.Ser221=) rs114421370 0.00485
NM_000142.5(FGFR3):c.-102-181G>A rs565525693 0.00420
NM_000142.5(FGFR3):c.930+180G>A rs150056292 0.00353
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000142.5(FGFR3):c.1535-8G>T rs111460786 0.00332
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928 0.00328
NM_000142.5(FGFR3):c.1076-16G>A rs3135889 0.00296
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_000142.5(FGFR3):c.2205C>G (p.Pro735=) rs145020302 0.00287
NM_000142.5(FGFR3):c.*5C>G rs17879364 0.00201
NM_000142.5(FGFR3):c.1535-20G>A rs113557371 0.00174
NM_000142.5(FGFR3):c.169G>A (p.Val57Met) rs61735064 0.00163
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580 0.00142
NM_000142.5(FGFR3):c.1413-16C>G rs201702411 0.00114
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) rs140594137 0.00106
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356 0.00101
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg) rs2305178 0.00097
NM_000142.5(FGFR3):c.990C>T (p.Thr330=) rs2305185 0.00097
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr) rs17882190 0.00095
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00083
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605 0.00081
NM_000142.5(FGFR3):c.-102-9C>T rs1035034826 0.00063
NM_000142.5(FGFR3):c.1371C>T (p.Leu457=) rs199758988 0.00057
NM_000142.5(FGFR3):c.1671C>T (p.Tyr557=) rs370408732 0.00057
NM_000142.5(FGFR3):c.2088C>T (p.Pro696=) rs142884145 0.00052
NM_000142.5(FGFR3):c.154G>A (p.Gly52Ser) rs140087676 0.00043
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461 0.00039
NM_000142.5(FGFR3):c.713G>A (p.Arg238Gln) rs199944818 0.00037
NM_000142.5(FGFR3):c.130G>A (p.Gly44Ser) rs146080119 0.00036
NM_000142.5(FGFR3):c.616-8C>T rs372304346 0.00034
NM_000142.5(FGFR3):c.159C>T (p.Ser53=) rs143548893 0.00025
NM_000142.5(FGFR3):c.725C>T (p.Thr242Met) rs150916178 0.00021
NM_000142.5(FGFR3):c.807C>T (p.Ser269=) rs199614237 0.00021
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740 0.00020
NM_000142.5(FGFR3):c.490C>G (p.Leu164Val) rs577990843 0.00020
NM_000142.5(FGFR3):c.2272G>A (p.Asp758Asn) rs56266857 0.00019
NM_000142.5(FGFR3):c.967G>A (p.Val323Ile) rs753520867 0.00017
NM_000142.5(FGFR3):c.933G>A (p.Thr311=) rs142805104 0.00015
NM_000142.5(FGFR3):c.2169-13G>A rs370060233 0.00014
NM_000142.5(FGFR3):c.616-6G>A rs17883400 0.00014
NM_000142.5(FGFR3):c.1320C>T (p.Ile440=) rs190111780 0.00013
NM_000142.5(FGFR3):c.616-18G>C rs372940259 0.00013
NM_000142.5(FGFR3):c.1960-13C>T rs377604726 0.00011
NM_000142.5(FGFR3):c.2082G>A (p.Pro694=) rs765659195 0.00011
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438 0.00011
NM_000142.5(FGFR3):c.1206C>A (p.Pro402=) rs779554720 0.00010
NM_000142.5(FGFR3):c.2270C>G (p.Thr757Ser) rs748763892 0.00010
NM_000142.5(FGFR3):c.740-17G>A rs371424896 0.00010
NM_000142.5(FGFR3):c.1379C>T (p.Pro460Leu) rs764488842 0.00009
NM_000142.5(FGFR3):c.1676C>T (p.Ala559Val) rs775946807 0.00009
NM_000142.5(FGFR3):c.2207C>A (p.Ser736Tyr) rs148631462 0.00009
NM_000142.5(FGFR3):c.808G>A (p.Asp270Asn) rs780147591 0.00009
NM_000142.5(FGFR3):c.1227C>T (p.Pro409=) rs533316478 0.00008
NM_000142.5(FGFR3):c.1285G>A (p.Ala429Thr) rs182935140 0.00008
NM_000142.5(FGFR3):c.1753C>T (p.Pro585Ser) rs761163163 0.00008
NM_000142.5(FGFR3):c.1830C>G (p.Ser610=) rs758618182 0.00008
NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln) rs758163128 0.00008
NM_000142.5(FGFR3):c.707G>A (p.Ser236Asn) rs200495316 0.00008
NM_000142.5(FGFR3):c.739+16C>T rs757999433 0.00008
NM_000142.5(FGFR3):c.1182G>A (p.Thr394=) rs771495510 0.00007
NM_000142.5(FGFR3):c.1701G>C (p.Leu567=) rs372367824 0.00007
NM_000142.5(FGFR3):c.416A>C (p.Asp139Ala) rs376268669 0.00007
NM_000142.5(FGFR3):c.639G>A (p.Leu213=) rs138707520 0.00007
NM_000142.5(FGFR3):c.1733C>T (p.Ser578Phe) rs989826317 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000142.5(FGFR3):c.329G>A (p.Arg110Gln) rs556916370 0.00006
NM_000142.5(FGFR3):c.885C>T (p.Gly295=) rs375181682 0.00006
NM_000142.5(FGFR3):c.1646-10G>A rs201317043 0.00005
NM_000142.5(FGFR3):c.1752G>A (p.Pro584=) rs139020690 0.00004
NM_000142.5(FGFR3):c.21C>T (p.Ala7=) rs779195790 0.00004
NM_000142.5(FGFR3):c.2349_2350del (p.Asp785fs) rs759113408 0.00004
NM_000142.5(FGFR3):c.2412G>A (p.Ser804=) rs375563964 0.00004
NM_000142.5(FGFR3):c.573C>T (p.Asn191=) rs377492283 0.00004
NM_000142.5(FGFR3):c.585C>G (p.Phe195Leu) rs1010991084 0.00004
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile) rs188723332 0.00004
NM_000142.5(FGFR3):c.1829C>A (p.Ser610Tyr) rs1176295260 0.00003
NM_000142.5(FGFR3):c.2249G>T (p.Arg750Leu) rs762888506 0.00003
NM_000142.5(FGFR3):c.2374G>A (p.Asp792Asn) rs376043260 0.00003
NM_000142.5(FGFR3):c.389C>T (p.Ser130Phe) rs113172184 0.00003
NM_000142.5(FGFR3):c.534C>T (p.Ala178=) rs567597726 0.00003
NM_000142.5(FGFR3):c.1195C>T (p.Arg399Cys) rs370064407 0.00002
NM_000142.5(FGFR3):c.1205C>G (p.Pro402Arg) rs752194597 0.00002
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) rs121913112 0.00002
NM_000142.5(FGFR3):c.1576A>G (p.Met526Val) rs766053734 0.00002
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) rs77722678 0.00002
NM_000142.5(FGFR3):c.1645+17C>T rs765768657 0.00002
NM_000142.5(FGFR3):c.1675G>C (p.Ala559Pro) rs768385286 0.00002
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=) rs104886006 0.00002
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330 0.00002
NM_000142.5(FGFR3):c.2169-4G>A rs758292253 0.00002
NM_000142.5(FGFR3):c.2249G>A (p.Arg750His) rs762888506 0.00002
NM_000142.5(FGFR3):c.712C>T (p.Arg238Trp) rs766423062 0.00002
NM_000142.5(FGFR3):c.779C>T (p.Pro260Leu) rs751038752 0.00002
NM_000142.5(FGFR3):c.870C>T (p.His290=) rs370518637 0.00002
NM_000142.5(FGFR3):c.*287C>T rs17882030 0.00001
NM_000142.5(FGFR3):c.1048C>A (p.His350Asn) rs762523796 0.00001
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) rs770029887 0.00001
NM_000142.5(FGFR3):c.150C>T (p.Val50=) rs750641928 0.00001
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly) rs772276122 0.00001
NM_000142.5(FGFR3):c.1560G>A (p.Ser520=) rs776527776 0.00001
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000142.5(FGFR3):c.1618A>G (p.Asn540Asp) rs1057519049 0.00001
NM_000142.5(FGFR3):c.192C>T (p.Pro64=) rs766462409 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) rs369232922 0.00001
NM_000142.5(FGFR3):c.201T>C (p.Gly67=) rs752621056 0.00001
NM_000142.5(FGFR3):c.2360C>G (p.Ser787Cys) rs1174982652 0.00001
NM_000142.5(FGFR3):c.328C>T (p.Arg110Trp) rs978856665 0.00001
NM_000142.5(FGFR3):c.379+18G>A rs775716751 0.00001
NM_000142.5(FGFR3):c.43G>A (p.Ala15Thr) rs573850631 0.00001
NM_000142.5(FGFR3):c.446-10C>T rs762297923 0.00001
NM_000142.5(FGFR3):c.615+11C>T rs780810190 0.00001
NM_000142.5(FGFR3):c.615+20T>C rs1374050784 0.00001
NM_000142.5(FGFR3):c.630G>A (p.Gln210=) rs777091470 0.00001
NM_000142.5(FGFR3):c.666C>T (p.Asp222=) rs201081464 0.00001
NM_000142.5(FGFR3):c.739G>A (p.Glu247Lys) rs565612580 0.00001
NM_000142.5(FGFR3):c.932C>T (p.Thr311Met) rs761527653 0.00001
NM_000142.5(FGFR3):c.938G>A (p.Gly313Asp) rs1560426864 0.00001
NM_000142.5(FGFR3):c.*140TG[3] rs34562534
NM_000142.5(FGFR3):c.*140TG[8] rs34562534
NM_000142.5(FGFR3):c.*204AG[1]
NM_000142.5(FGFR3):c.-102-18_-102-11del rs1452696194
NM_000142.5(FGFR3):c.-103+141C>T rs17879199
NM_000142.5(FGFR3):c.1052C>G (p.Ser351Cys) rs1057517964
NM_000142.5(FGFR3):c.1055C>T (p.Ala352Val) rs886043604
NM_000142.5(FGFR3):c.1075+30G>C rs3135886
NM_000142.5(FGFR3):c.1076-34del rs4647926
NM_000142.5(FGFR3):c.1076-34dup rs4647926
NM_000142.5(FGFR3):c.1076-41G>C rs373591344
NM_000142.5(FGFR3):c.1076-42G>C rs17884871
NM_000142.5(FGFR3):c.1076-43G>T rs547904954
NM_000142.5(FGFR3):c.1085_1096del (p.Glu362_Glu365del)
NM_000142.5(FGFR3):c.109+297C>A rs3135833
NM_000142.5(FGFR3):c.1099G>T (p.Asp367Tyr) rs1444200455
NM_000142.5(FGFR3):c.109G>A (p.Glu37Lys) rs1553842213
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1121C>G (p.Ala374Gly) rs2108796824
NM_000142.5(FGFR3):c.1130T>C (p.Leu377Pro)
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1148T>G (p.Phe383Cys)
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.1190G>A (p.Arg397His) rs542210035
NM_000142.5(FGFR3):c.1242C>G (p.Ile414Met) rs143094785
NM_000142.5(FGFR3):c.1247G>A (p.Arg416His)
NM_000142.5(FGFR3):c.1276G>A (p.Glu426Lys) rs1721673899
NM_000142.5(FGFR3):c.1289C>T (p.Ser430Phe)
NM_000142.5(FGFR3):c.129del (p.Gly44fs)
NM_000142.5(FGFR3):c.1304CAC[1] (p.Pro436del)
NM_000142.5(FGFR3):c.1315C>G (p.Arg439Gly) rs749083353
NM_000142.5(FGFR3):c.1371C>G (p.Leu457=) rs199758988
NM_000142.5(FGFR3):c.1412+138G>C rs4865476
NM_000142.5(FGFR3):c.1413-29A>G rs3135894
NM_000142.5(FGFR3):c.1436G>A (p.Gly479Glu)
NM_000142.5(FGFR3):c.1450G>A (p.Gly484Ser) rs2108802167
NM_000142.5(FGFR3):c.1474A>G (p.Ile492Val)
NM_000142.5(FGFR3):c.1534+14G>T rs374221323
NM_000142.5(FGFR3):c.1544C>T (p.Thr515Ile)
NM_000142.5(FGFR3):c.1546G>C (p.Asp516His)
NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) rs77722678
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1646-11C>A rs763302590
NM_000142.5(FGFR3):c.1647G>T (p.Gly549=) rs3135897
NM_000142.5(FGFR3):c.1663G>T (p.Val555Leu) rs1474187970
NM_000142.5(FGFR3):c.1674G>A (p.Ala558=) rs557734169
NM_000142.5(FGFR3):c.1675G>A (p.Ala559Thr) rs768385286
NM_000142.5(FGFR3):c.1691G>A (p.Arg564Gln)
NM_000142.5(FGFR3):c.1765C>G (p.Leu589Val) rs587778357
NM_000142.5(FGFR3):c.1808G>A (p.Arg603Gln) rs1462697338
NM_000142.5(FGFR3):c.1838G>A (p.Cys613Tyr) rs1293700770
NM_000142.5(FGFR3):c.1862G>T (p.Arg621Leu) rs121913113
NM_000142.5(FGFR3):c.189G>A (p.Pro63=) rs140377760
NM_000142.5(FGFR3):c.1900G>A (p.Ala634Thr) rs2108807024
NM_000142.5(FGFR3):c.1915G>A (p.Ala639Thr)
NM_000142.5(FGFR3):c.1916C>T (p.Ala639Val)
NM_000142.5(FGFR3):c.1921G>A (p.Asp641Asn) rs2108807251
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.1982T>C (p.Met661Thr)
NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly) rs1490564667
NM_000142.5(FGFR3):c.202_204delinsT (p.Pro68fs) rs2108772949
NM_000142.5(FGFR3):c.2110_2126del (p.Phe704fs) rs2108812167
NM_000142.5(FGFR3):c.2143A>G (p.Lys715Glu)
NM_000142.5(FGFR3):c.2222T>C (p.Phe741Ser) rs768999235
NM_000142.5(FGFR3):c.2258C>T (p.Thr753Ile)
NM_000142.5(FGFR3):c.2302G>A (p.Glu768Lys)
NM_000142.5(FGFR3):c.2309del (p.Tyr770fs) rs1486795772
NM_000142.5(FGFR3):c.2314C>G (p.Pro772Ala)
NM_000142.5(FGFR3):c.2315C>T (p.Pro772Leu)
NM_000142.5(FGFR3):c.2327A>C (p.Asp776Ala) rs1435446706
NM_000142.5(FGFR3):c.2337del (p.Ser780fs) rs2108817655
NM_000142.5(FGFR3):c.2374dup (p.Asp792fs) rs1057518205
NM_000142.5(FGFR3):c.2407_*5delinsCCCTG (p.Gly803_Ter807delinsProXaa) rs1064796266
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) rs121913101
NM_000142.5(FGFR3):c.2420G>C (p.Ter807Ser) rs397515514
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys) rs121913103
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) rs121913103
NM_000142.5(FGFR3):c.256C>T (p.Arg86Cys)
NM_000142.5(FGFR3):c.346C>T (p.Arg116Cys) rs886042775
NM_000142.5(FGFR3):c.350T>C (p.Val117Ala) rs1475035118
NM_000142.5(FGFR3):c.416A>T (p.Asp139Val)
NM_000142.5(FGFR3):c.43G>T (p.Ala15Ser) rs573850631
NM_000142.5(FGFR3):c.443_445+3delinsTAGGTG
NM_000142.5(FGFR3):c.445+2_445+5del rs756854039
NM_000142.5(FGFR3):c.565C>T (p.Leu189=)
NM_000142.5(FGFR3):c.615+6C>A rs2305182
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys) rs1721198491
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000142.5(FGFR3):c.781G>A (p.Ala261Thr) rs2108783663
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) rs121913114
NM_000142.5(FGFR3):c.847C>A (p.Pro283Thr) rs769692611
NM_000142.5(FGFR3):c.912C>G (p.Pro304=) rs201012537
NM_000142.5(FGFR3):c.921C>T (p.Thr307=) rs148518372
NM_000142.5(FGFR3):c.930+218G>A rs3135875
NM_000142.5(FGFR3):c.935C>T (p.Ala312Val)
NM_000142.5(FGFR3):c.955_957del (p.Lys319del)
NM_000142.5(FGFR3):c.965A>G (p.Glu322Gly) rs1281038061

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