ClinVar Miner

List of variants in gene FGFR3 reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.2272G>A (p.Asp758Asn) rs56266857 0.00019
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr) rs201433984 0.00014
NM_000142.5(FGFR3):c.2339C>G (p.Ser780Cys) rs140616343 0.00011
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.1492C>T (p.Arg498Trp) rs773735098 0.00008
NM_000142.5(FGFR3):c.1753C>T (p.Pro585Ser) rs761163163 0.00008
NM_000142.5(FGFR3):c.2264C>T (p.Thr755Met) rs752294041 0.00008
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) rs200849753 0.00007
NM_000142.5(FGFR3):c.416A>C (p.Asp139Ala) rs376268669 0.00007
NM_000142.5(FGFR3):c.1733C>T (p.Ser578Phe) rs989826317 0.00006
NM_000142.5(FGFR3):c.473G>A (p.Arg158Gln) rs745863884 0.00006
NM_000142.5(FGFR3):c.560C>A (p.Ser187Tyr) rs767900565 0.00006
NM_000142.5(FGFR3):c.1102G>A (p.Glu368Lys) rs201136923 0.00005
NM_000142.5(FGFR3):c.1354G>T (p.Ala452Ser) rs3135893 0.00005
NM_000142.5(FGFR3):c.418G>A (p.Glu140Lys) rs542749920 0.00005
NM_000142.5(FGFR3):c.1316G>A (p.Arg439His) rs529493162 0.00004
NM_000142.5(FGFR3):c.2291C>T (p.Ser764Leu) rs759398915 0.00004
NM_000142.5(FGFR3):c.2349_2350del (p.Asp785fs) rs759113408 0.00004
NM_000142.5(FGFR3):c.371G>A (p.Arg124Gln) rs774749538 0.00004
NM_000142.5(FGFR3):c.585C>G (p.Phe195Leu) rs1010991084 0.00004
NM_000142.5(FGFR3):c.916G>A (p.Val306Ile) rs774047997 0.00004
NM_000142.5(FGFR3):c.1283A>G (p.Asn428Ser) rs138986264 0.00003
NM_000142.5(FGFR3):c.1411C>T (p.Arg471Trp) rs533045918 0.00003
NM_000142.5(FGFR3):c.1534+6G>C rs1213940166 0.00003
NM_000142.5(FGFR3):c.1829C>A (p.Ser610Tyr) rs1176295260 0.00003
NM_000142.5(FGFR3):c.205A>G (p.Met69Val) rs373818958 0.00003
NM_000142.5(FGFR3):c.2374G>A (p.Asp792Asn) rs376043260 0.00003
NM_000142.5(FGFR3):c.313G>A (p.Gly105Arg) rs1394280534 0.00003
NM_000142.5(FGFR3):c.391T>C (p.Ser131Pro) rs951384304 0.00003
NM_000142.5(FGFR3):c.518G>A (p.Arg173His) rs1441656357 0.00003
NM_000142.5(FGFR3):c.853A>G (p.Ile285Val) rs765988008 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.1267G>C (p.Val423Leu) rs1256546303 0.00002
NM_000142.5(FGFR3):c.1351C>A (p.Leu451Met) rs547391969 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.1675G>C (p.Ala559Pro) rs768385286 0.00002
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330 0.00002
NM_000142.5(FGFR3):c.2150C>T (p.Ala717Val) rs749192018 0.00002
NM_000142.5(FGFR3):c.2183G>A (p.Arg728Gln) rs149924317 0.00002
NM_000142.5(FGFR3):c.2294C>T (p.Ala765Val) rs140211846 0.00002
NM_000142.5(FGFR3):c.2356G>A (p.Asp786Asn) rs548817695 0.00002
NM_000142.5(FGFR3):c.277C>T (p.Arg93Trp) rs199968400 0.00002
NM_000142.5(FGFR3):c.278G>A (p.Arg93Gln) rs771333357 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.1031C>T (p.Ser344Phe) rs199702395 0.00001
NM_000142.5(FGFR3):c.1106C>T (p.Ala369Val) rs146970233 0.00001
NM_000142.5(FGFR3):c.1130T>G (p.Leu377Arg) rs267606809 0.00001
NM_000142.5(FGFR3):c.116C>T (p.Pro39Leu) rs769591617 0.00001
NM_000142.5(FGFR3):c.1172C>T (p.Ala391Val) rs28931615 0.00001
NM_000142.5(FGFR3):c.1189C>T (p.Arg397Cys) rs576428377 0.00001
NM_000142.5(FGFR3):c.1210A>G (p.Lys404Glu) rs780415133 0.00001
NM_000142.5(FGFR3):c.1223C>T (p.Ser408Phe) rs761877926 0.00001
NM_000142.5(FGFR3):c.1238A>G (p.Lys413Arg) rs767109009 0.00001
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) rs770029887 0.00001
NM_000142.5(FGFR3):c.1262G>A (p.Arg421Gln) rs587778355 0.00001
NM_000142.5(FGFR3):c.1279T>A (p.Ser427Thr) rs1168038163 0.00001
NM_000142.5(FGFR3):c.1306C>T (p.Pro436Ser) rs1721680684 0.00001
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) rs761325047 0.00001
NM_000142.5(FGFR3):c.1486A>G (p.Lys496Glu) rs587778359 0.00001
NM_000142.5(FGFR3):c.1559C>T (p.Ser520Leu) rs587778356 0.00001
NM_000142.5(FGFR3):c.1645+4G>C rs1367336734 0.00001
NM_000142.5(FGFR3):c.1742C>T (p.Thr581Ile) rs914339017 0.00001
NM_000142.5(FGFR3):c.1756G>A (p.Glu586Lys) rs576023546 0.00001
NM_000142.5(FGFR3):c.2030+4C>T rs764661082 0.00001
NM_000142.5(FGFR3):c.2035T>G (p.Ser679Ala) rs769602256 0.00001
NM_000142.5(FGFR3):c.2126A>G (p.Glu709Gly) rs755133781 0.00001
NM_000142.5(FGFR3):c.2201C>T (p.Ala734Val) rs555257146 0.00001
NM_000142.5(FGFR3):c.2215C>G (p.Pro739Ala) rs1476525477 0.00001
NM_000142.5(FGFR3):c.2318G>A (p.Gly773Asp) rs773197447 0.00001
NM_000142.5(FGFR3):c.2333C>G (p.Pro778Arg) rs1300271691 0.00001
NM_000142.5(FGFR3):c.2387C>G (p.Pro796Arg) rs768644781 0.00001
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp) rs369758941 0.00001
NM_000142.5(FGFR3):c.328C>T (p.Arg110Trp) rs978856665 0.00001
NM_000142.5(FGFR3):c.343C>G (p.Gln115Glu) rs746468796 0.00001
NM_000142.5(FGFR3):c.370C>T (p.Arg124Trp) rs199740841 0.00001
NM_000142.5(FGFR3):c.386C>T (p.Pro129Leu) rs751165912 0.00001
NM_000142.5(FGFR3):c.409G>A (p.Gly137Arg) rs750990333 0.00001
NM_000142.5(FGFR3):c.433G>A (p.Gly145Ser) rs1459930425 0.00001
NM_000142.5(FGFR3):c.43G>A (p.Ala15Thr) rs573850631 0.00001
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile) rs529408918 0.00001
NM_000142.5(FGFR3):c.653T>C (p.Val218Ala) rs766513208 0.00001
NM_000142.5(FGFR3):c.685G>A (p.Val229Ile) rs368831528 0.00001
NM_000142.5(FGFR3):c.690G>A (p.Val230=) rs371766123 0.00001
NM_000142.5(FGFR3):c.739G>A (p.Glu247Lys) rs565612580 0.00001
NM_000142.5(FGFR3):c.793G>A (p.Ala265Thr) rs151254213 0.00001
NM_000142.5(FGFR3):c.932C>T (p.Thr311Met) rs761527653 0.00001
NM_000142.5(FGFR3):c.980A>G (p.His327Arg) rs372315097 0.00001
NM_000142.5(FGFR3):c.991T>C (p.Phe331Leu) rs1246952737 0.00001
NC_000004.11:g.(?_1795662)_(1795790_?)dup
NM_000142.5(FGFR3):c.1024G>A (p.Gly342Ser)
NM_000142.5(FGFR3):c.1031C>G (p.Ser344Cys)
NM_000142.5(FGFR3):c.1055C>T (p.Ala352Val) rs886043604
NM_000142.5(FGFR3):c.1058G>A (p.Trp353Ter)
NM_000142.5(FGFR3):c.1075+4C>T
NM_000142.5(FGFR3):c.1075+6G>T
NM_000142.5(FGFR3):c.1076-77_1076-16del
NM_000142.5(FGFR3):c.1078G>A (p.Glu360Lys) rs757013992
NM_000142.5(FGFR3):c.1078G>C (p.Glu360Gln)
NM_000142.5(FGFR3):c.1100A>C (p.Asp367Ala)
NM_000142.5(FGFR3):c.1127T>C (p.Ile376Thr)
NM_000142.5(FGFR3):c.1135T>C (p.Tyr379His)
NM_000142.5(FGFR3):c.1135_1136delinsCG (p.Tyr379Arg)
NM_000142.5(FGFR3):c.1141_1142delinsAA (p.Val381Lys) rs2108797094
NM_000142.5(FGFR3):c.1142T>G (p.Val381Gly)
NM_000142.5(FGFR3):c.1148T>G (p.Phe383Cys)
NM_000142.5(FGFR3):c.1150T>A (p.Phe384Ile)
NM_000142.5(FGFR3):c.1172C>G (p.Ala391Gly)
NM_000142.5(FGFR3):c.1186_1257del (p.Cys396_Leu419del)
NM_000142.5(FGFR3):c.1190G>A (p.Arg397His) rs542210035
NM_000142.5(FGFR3):c.1201C>G (p.Pro401Ala)
NM_000142.5(FGFR3):c.1207A>G (p.Lys403Glu)
NM_000142.5(FGFR3):c.1237A>G (p.Lys413Glu)
NM_000142.5(FGFR3):c.1239G>C (p.Lys413Asn)
NM_000142.5(FGFR3):c.1242C>G (p.Ile414Met) rs143094785
NM_000142.5(FGFR3):c.1246C>T (p.Arg416Cys)
NM_000142.5(FGFR3):c.1250T>A (p.Phe417Tyr)
NM_000142.5(FGFR3):c.1253C>T (p.Pro418Leu)
NM_000142.5(FGFR3):c.1280C>G (p.Ser427Cys)
NM_000142.5(FGFR3):c.1291A>G (p.Met431Val)
NM_000142.5(FGFR3):c.1309C>G (p.Leu437Val) rs2108799995
NM_000142.5(FGFR3):c.1313T>C (p.Val438Ala)
NM_000142.5(FGFR3):c.1316G>T (p.Arg439Leu)
NM_000142.5(FGFR3):c.1358A>G (p.Asn453Ser)
NM_000142.5(FGFR3):c.1366G>A (p.Glu456Lys) rs1201375716
NM_000142.5(FGFR3):c.1384G>A (p.Asp462Asn)
NM_000142.5(FGFR3):c.13G>C (p.Ala5Pro)
NM_000142.5(FGFR3):c.1411C>G (p.Arg471Gly)
NM_000142.5(FGFR3):c.1413G>A (p.Arg471=)
NM_000142.5(FGFR3):c.1466C>T (p.Ala489Val)
NM_000142.5(FGFR3):c.1480A>G (p.Ile494Val) rs1057519048
NM_000142.5(FGFR3):c.1493G>A (p.Arg498Gln)
NM_000142.5(FGFR3):c.14C>T (p.Ala5Val)
NM_000142.5(FGFR3):c.1505C>T (p.Pro502Leu) rs1721767045
NM_000142.5(FGFR3):c.1535A>G (p.Asp512Gly) rs2108803057
NM_000142.5(FGFR3):c.1537G>T (p.Asp513Tyr)
NM_000142.5(FGFR3):c.1578G>A (p.Met526Ile)
NM_000142.5(FGFR3):c.1584G>C (p.Met528Ile) rs1448843898
NM_000142.5(FGFR3):c.159C>A (p.Ser53Arg)
NM_000142.5(FGFR3):c.160G>A (p.Gly54Arg)
NM_000142.5(FGFR3):c.1640A>G (p.Gln547Arg) rs2108803678
NM_000142.5(FGFR3):c.1646-3C>T
NM_000142.5(FGFR3):c.1663G>A (p.Val555Met)
NM_000142.5(FGFR3):c.1663G>C (p.Val555Leu) rs1474187970
NM_000142.5(FGFR3):c.1663G>T (p.Val555Leu) rs1474187970
NM_000142.5(FGFR3):c.1675G>A (p.Ala559Thr) rs768385286
NM_000142.5(FGFR3):c.1680G>C (p.Lys560Asn)
NM_000142.5(FGFR3):c.1690C>T (p.Arg564Trp) rs2108804401
NM_000142.5(FGFR3):c.1715C>T (p.Pro572Leu)
NM_000142.5(FGFR3):c.1724T>C (p.Leu575Pro)
NM_000142.5(FGFR3):c.1726G>T (p.Asp576Tyr)
NM_000142.5(FGFR3):c.172G>A (p.Glu58Lys)
NM_000142.5(FGFR3):c.1746C>T (p.Cys582=)
NM_000142.5(FGFR3):c.1748A>T (p.Lys583Met)
NM_000142.5(FGFR3):c.1762C>G (p.Gln588Glu)
NM_000142.5(FGFR3):c.1777_1778delinsTG (p.Asp593Cys)
NM_000142.5(FGFR3):c.179G>C (p.Ser60Thr) rs927310452
NM_000142.5(FGFR3):c.17G>A (p.Cys6Tyr)
NM_000142.5(FGFR3):c.1809G>C (p.Arg603=)
NM_000142.5(FGFR3):c.1826C>G (p.Ala609Gly)
NM_000142.5(FGFR3):c.1826C>T (p.Ala609Val)
NM_000142.5(FGFR3):c.1836+4G>A
NM_000142.5(FGFR3):c.1865A>G (p.Asn622Ser)
NM_000142.5(FGFR3):c.1866T>G (p.Asn622Lys)
NM_000142.5(FGFR3):c.188C>G (p.Pro63Arg) rs371729802
NM_000142.5(FGFR3):c.1924G>A (p.Val642Met)
NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg) rs1448029825
NM_000142.5(FGFR3):c.1957A>G (p.Asn653Asp) rs1721887181
NM_000142.5(FGFR3):c.1959C>T (p.Asn653=)
NM_000142.5(FGFR3):c.1964G>A (p.Arg655Gln)
NM_000142.5(FGFR3):c.1982T>C (p.Met661Thr)
NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly) rs1490564667
NM_000142.5(FGFR3):c.2016_2017delinsCT (p.His673Tyr)
NM_000142.5(FGFR3):c.2036C>T (p.Ser679Phe)
NM_000142.5(FGFR3):c.2050C>T (p.Leu684Phe)
NM_000142.5(FGFR3):c.2078C>T (p.Ser693Phe)
NM_000142.5(FGFR3):c.2104G>A (p.Glu702Lys)
NM_000142.5(FGFR3):c.2105A>T (p.Glu702Val)
NM_000142.5(FGFR3):c.2125G>A (p.Glu709Lys)
NM_000142.5(FGFR3):c.2152A>G (p.Asn718Asp) rs587778358
NM_000142.5(FGFR3):c.2164G>A (p.Asp722Asn) rs1721962901
NM_000142.5(FGFR3):c.2168+6T>G rs2108812785
NM_000142.5(FGFR3):c.2245G>C (p.Asp749His)
NM_000142.5(FGFR3):c.2249G>C (p.Arg750Pro) rs762888506
NM_000142.5(FGFR3):c.2274+3G>A
NM_000142.5(FGFR3):c.227A>G (p.Lys76Arg)
NM_000142.5(FGFR3):c.2297C>T (p.Pro766Leu)
NM_000142.5(FGFR3):c.2302G>A (p.Glu768Lys)
NM_000142.5(FGFR3):c.2302G>T (p.Glu768Ter)
NM_000142.5(FGFR3):c.2312C>G (p.Ser771Cys) rs755526507
NM_000142.5(FGFR3):c.2315C>T (p.Pro772Leu)
NM_000142.5(FGFR3):c.2342G>T (p.Ser781Ile) rs764958279
NM_000142.5(FGFR3):c.2369C>T (p.Ala790Val)
NM_000142.5(FGFR3):c.2372A>G (p.His791Arg)
NM_000142.5(FGFR3):c.2395C>T (p.Pro799Ser)
NM_000142.5(FGFR3):c.28C>T (p.Leu10Phe) rs918934226
NM_000142.5(FGFR3):c.340A>C (p.Thr114Pro)
NM_000142.5(FGFR3):c.341C>T (p.Thr114Met)
NM_000142.5(FGFR3):c.347G>A (p.Arg116His)
NM_000142.5(FGFR3):c.377C>G (p.Thr126Arg) rs2108774057
NM_000142.5(FGFR3):c.382G>A (p.Ala128Thr)
NM_000142.5(FGFR3):c.3G>A (p.Met1Ile) rs1560384106
NM_000142.5(FGFR3):c.40G>A (p.Val14Met)
NM_000142.5(FGFR3):c.421G>A (p.Ala141Thr)
NM_000142.5(FGFR3):c.431C>G (p.Thr144Arg)
NM_000142.5(FGFR3):c.436_445+2del rs1030059712
NM_000142.5(FGFR3):c.436_445+2dup
NM_000142.5(FGFR3):c.445+2_445+5del rs756854039
NM_000142.5(FGFR3):c.445+6A>G
NM_000142.5(FGFR3):c.448G>C (p.Ala150Pro)
NM_000142.5(FGFR3):c.449C>A (p.Ala150Asp) rs2108780220
NM_000142.5(FGFR3):c.469G>A (p.Glu157Lys)
NM_000142.5(FGFR3):c.484A>C (p.Lys162Gln)
NM_000142.5(FGFR3):c.51_59del (p.Ala18_Ala20del)
NM_000142.5(FGFR3):c.523C>T (p.Arg175Cys)
NM_000142.5(FGFR3):c.524G>A (p.Arg175His)
NM_000142.5(FGFR3):c.52G>A (p.Ala18Thr)
NM_000142.5(FGFR3):c.556A>G (p.Ile186Val)
NM_000142.5(FGFR3):c.577A>G (p.Arg193Gly)
NM_000142.5(FGFR3):c.589G>A (p.Gly197Ser)
NM_000142.5(FGFR3):c.615+6C>T rs2305182
NM_000142.5(FGFR3):c.67G>C (p.Glu23Gln) rs1577253714
NM_000142.5(FGFR3):c.692A>G (p.Glu231Gly)
NM_000142.5(FGFR3):c.700T>C (p.Phe234Leu)
NM_000142.5(FGFR3):c.719C>T (p.Thr240Met)
NM_000142.5(FGFR3):c.738G>A (p.Leu246=)
NM_000142.5(FGFR3):c.746C>T (p.Ser249Phe) rs121913483
NM_000142.5(FGFR3):c.748_749delinsAA (p.Pro250Lys)
NM_000142.5(FGFR3):c.749C>T (p.Pro250Leu) rs4647924
NM_000142.5(FGFR3):c.770C>T (p.Ala257Val)
NM_000142.5(FGFR3):c.77G>A (p.Gly26Glu) rs1221876688
NM_000142.5(FGFR3):c.790A>G (p.Thr264Ala)
NM_000142.5(FGFR3):c.805A>G (p.Ser269Gly)
NM_000142.5(FGFR3):c.811G>A (p.Val271Met) rs1445397378
NM_000142.5(FGFR3):c.820C>T (p.His274Tyr)
NM_000142.5(FGFR3):c.824G>T (p.Cys275Phe) rs2108784108
NM_000142.5(FGFR3):c.826A>G (p.Lys276Glu)
NM_000142.5(FGFR3):c.841G>A (p.Ala281Thr)
NM_000142.5(FGFR3):c.856del (p.Gln286fs)
NM_000142.5(FGFR3):c.857A>T (p.Gln286Leu) rs2108784483
NM_000142.5(FGFR3):c.899C>T (p.Pro300Leu)
NM_000142.5(FGFR3):c.944A>C (p.Asn315Thr)
NM_000142.5(FGFR3):c.945C>G (p.Asn315Lys) rs770974896
NM_000142.5(FGFR3):c.946A>G (p.Thr316Ala) rs2108793196
NM_000142.5(FGFR3):c.955_957del (p.Lys319del)
NM_000142.5(FGFR3):c.979C>T (p.His327Tyr)
NM_000142.5(FGFR3):c.983A>G (p.Asn328Ser)
NM_000142.5(FGFR3):c.989C>T (p.Thr330Ile) rs1721503041

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