ClinVar Miner

List of variants in gene FBXL4 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_001278716.2(FBXL4):c.1569G>A (p.Gly523=) rs11537982 0.06744
NM_001278716.2(FBXL4):c.465C>T (p.Leu155=) rs1011676 0.05403
NM_001278716.2(FBXL4):c.105T>A (p.His35Gln) rs34316889 0.02361
NM_001278716.2(FBXL4):c.978A>G (p.Gln326=) rs61744041 0.00506
NM_001278716.2(FBXL4):c.429A>G (p.Leu143=) rs17058965 0.00480
NM_001278716.2(FBXL4):c.1317+14A>G rs182139048 0.00082
NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr) rs143154211 0.00076
NM_001278716.2(FBXL4):c.468T>C (p.Ala156=) rs114916821 0.00068
NM_001278716.2(FBXL4):c.65G>A (p.Arg22Gln) rs147696366 0.00057
NM_001278716.2(FBXL4):c.1388T>C (p.Met463Thr) rs146638016 0.00047
NM_001278716.2(FBXL4):c.1251A>G (p.Gln417=) rs151258576 0.00043
NM_001278716.2(FBXL4):c.1083C>T (p.Ile361=) rs368029297 0.00027
NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala) rs142853738 0.00024
NM_001278716.2(FBXL4):c.1073G>A (p.Arg358Lys) rs372544390 0.00021
NM_001278716.2(FBXL4):c.1317+19T>G rs201615847 0.00021
NM_001278716.2(FBXL4):c.541A>G (p.Thr181Ala) rs150748757 0.00021
NM_001278716.2(FBXL4):c.1594C>G (p.Leu532Val) rs150523994 0.00019
NM_001278716.2(FBXL4):c.1723G>T (p.Ala575Ser) rs200435702 0.00019
NM_001278716.2(FBXL4):c.351G>A (p.Thr117=) rs375173811 0.00018
NM_001278716.2(FBXL4):c.1103+13C>T rs182076681 0.00016
NM_001278716.2(FBXL4):c.527G>C (p.Trp176Ser) rs201858974 0.00016
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
NM_001278716.2(FBXL4):c.91A>G (p.Met31Val) rs148934429 0.00013
NM_001278716.2(FBXL4):c.1209A>G (p.Leu403=) rs764546116 0.00012
NM_001278716.2(FBXL4):c.735T>C (p.Asp245=) rs369242693 0.00012
NM_001278716.2(FBXL4):c.1445G>A (p.Arg482Gln) rs200372976 0.00011
NM_001278716.2(FBXL4):c.1126G>A (p.Glu376Lys) rs745512025 0.00010
NM_001278716.2(FBXL4):c.936G>A (p.Gln312=) rs142814111 0.00010
NM_001278716.2(FBXL4):c.1546C>T (p.Pro516Ser) rs145806027 0.00009
NM_001278716.2(FBXL4):c.300T>C (p.Tyr100=) rs573472397 0.00009
NM_001278716.2(FBXL4):c.1125C>T (p.Ser375=) rs377550308 0.00008
NM_001278716.2(FBXL4):c.1566C>T (p.Thr522=) rs149704398 0.00008
NM_001278716.2(FBXL4):c.813C>T (p.Leu271=) rs146999462 0.00008
NM_001278716.2(FBXL4):c.104A>G (p.His35Arg) rs201901274 0.00006
NM_001278716.2(FBXL4):c.1400A>G (p.Tyr467Cys) rs761551398 0.00006
NM_001278716.2(FBXL4):c.61C>T (p.Arg21Cys) rs369518305 0.00006
NM_001278716.2(FBXL4):c.752A>G (p.Tyr251Cys) rs758776562 0.00006
NM_001278716.2(FBXL4):c.78T>C (p.Ala26=) rs774610091 0.00006
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687 0.00005
NM_001278716.2(FBXL4):c.48T>C (p.Tyr16=) rs748705687 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001278716.2(FBXL4):c.1214C>A (p.Ala405Asp) rs140490040 0.00004
NM_001278716.2(FBXL4):c.1318-16T>C rs768679543 0.00004
NM_001278716.2(FBXL4):c.1826G>A (p.Ser609Asn) rs371875653 0.00004
NM_001278716.2(FBXL4):c.526T>C (p.Trp176Arg) rs201149065 0.00004
NM_001278716.2(FBXL4):c.565C>T (p.Arg189Cys) rs373308410 0.00004
NM_001278716.2(FBXL4):c.9G>A (p.Pro3=) rs773041308 0.00004
NM_001278716.2(FBXL4):c.1104-19T>C rs765527736 0.00003
NM_001278716.2(FBXL4):c.1156C>T (p.His386Tyr) rs751643380 0.00003
NM_001278716.2(FBXL4):c.1172C>G (p.Thr391Ser) rs750610341 0.00003
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213 0.00003
NM_001278716.2(FBXL4):c.1289G>A (p.Arg430Gln) rs377537581 0.00003
NM_001278716.2(FBXL4):c.1318-15G>C rs373175308 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001278716.2(FBXL4):c.1713G>A (p.Met571Ile) rs767419935 0.00003
NM_001278716.2(FBXL4):c.434C>G (p.Thr145Ser) rs755971635 0.00003
NM_001278716.2(FBXL4):c.540T>G (p.Pro180=) rs760238524 0.00003
NM_001278716.2(FBXL4):c.58C>T (p.Arg20Trp) rs758088733 0.00003
NM_001278716.2(FBXL4):c.714T>G (p.Thr238=) rs776419278 0.00003
NM_001278716.2(FBXL4):c.8C>T (p.Pro3Leu) rs561491659 0.00003
NM_001278716.2(FBXL4):c.1037T>C (p.Leu346Pro) rs186727069 0.00002
NM_001278716.2(FBXL4):c.1056A>G (p.Leu352=) rs779748858 0.00002
NM_001278716.2(FBXL4):c.1069A>G (p.Asn357Asp) rs199540184 0.00002
NM_001278716.2(FBXL4):c.1244C>T (p.Pro415Leu) rs770653005 0.00002
NM_001278716.2(FBXL4):c.1285A>G (p.Lys429Glu) rs1554218803 0.00002
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863 0.00002
NM_001278716.2(FBXL4):c.1483A>C (p.Asn495His) rs568736395 0.00002
NM_001278716.2(FBXL4):c.219T>C (p.Tyr73=) rs747536886 0.00002
NM_001278716.2(FBXL4):c.529T>A (p.Ser177Thr) rs753998502 0.00002
NM_001278716.2(FBXL4):c.766G>A (p.Gly256Ser) rs765912815 0.00002
NM_001278716.2(FBXL4):c.988G>A (p.Ala330Thr) rs759851318 0.00002
NM_001278716.2(FBXL4):c.991A>G (p.Lys331Glu) rs749668327 0.00002
NM_001278716.2(FBXL4):c.1009C>T (p.Leu337=) rs778318524 0.00001
NM_001278716.2(FBXL4):c.1020A>G (p.Leu340=) rs747657121 0.00001
NM_001278716.2(FBXL4):c.1025C>G (p.Ser342Cys) rs780707718 0.00001
NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter) rs1182326570 0.00001
NM_001278716.2(FBXL4):c.1136G>A (p.Arg379His) rs756984960 0.00001
NM_001278716.2(FBXL4):c.1137C>T (p.Arg379=) rs895469467 0.00001
NM_001278716.2(FBXL4):c.1252G>A (p.Ala418Thr) rs542852839 0.00001
NM_001278716.2(FBXL4):c.1294G>A (p.Val432Ile) rs760332582 0.00001
NM_001278716.2(FBXL4):c.1297C>T (p.Leu433Phe) rs1273843469 0.00001
NM_001278716.2(FBXL4):c.1346T>C (p.Phe449Ser) rs1317325730 0.00001
NM_001278716.2(FBXL4):c.135C>T (p.Ser45=) rs764057679 0.00001
NM_001278716.2(FBXL4):c.1379G>A (p.Ser460Asn) rs762621252 0.00001
NM_001278716.2(FBXL4):c.1389+13G>C rs768430744 0.00001
NM_001278716.2(FBXL4):c.1430A>C (p.Lys477Thr) rs1003495628 0.00001
NM_001278716.2(FBXL4):c.1564A>G (p.Thr522Ala) rs775291550 0.00001
NM_001278716.2(FBXL4):c.1703-14T>C rs773834428 0.00001
NM_001278716.2(FBXL4):c.1764T>G (p.Ser588=) rs770326964 0.00001
NM_001278716.2(FBXL4):c.1787C>T (p.Ser596Leu) rs542778224 0.00001
NM_001278716.2(FBXL4):c.273T>C (p.Phe91=) rs1438963021 0.00001
NM_001278716.2(FBXL4):c.371A>G (p.Gln124Arg) rs370408625 0.00001
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447 0.00001
NM_001278716.2(FBXL4):c.433A>G (p.Thr145Ala) rs1179798985 0.00001
NM_001278716.2(FBXL4):c.440A>G (p.His147Arg) rs748016378 0.00001
NM_001278716.2(FBXL4):c.493A>C (p.Asn165His) rs761003289 0.00001
NM_001278716.2(FBXL4):c.532G>A (p.Glu178Lys) rs199923936 0.00001
NM_001278716.2(FBXL4):c.539C>T (p.Pro180Leu) rs1015958378 0.00001
NM_001278716.2(FBXL4):c.654T>C (p.Thr218=) rs1271495426 0.00001
NM_001278716.2(FBXL4):c.736A>G (p.Ile246Val) rs148621221 0.00001
NM_001278716.2(FBXL4):c.744T>C (p.Asp248=) rs149549442 0.00001
NM_001278716.2(FBXL4):c.763G>C (p.Asp255His) rs1772404815 0.00001
NM_001278716.2(FBXL4):c.776T>C (p.Met259Thr) rs376909719 0.00001
NM_001278716.2(FBXL4):c.782G>A (p.Ser261Asn) rs763612215 0.00001
NM_001278716.2(FBXL4):c.859-1G>T rs368965675 0.00001
NM_001278716.2(FBXL4):c.901T>C (p.Cys301Arg) rs747126681 0.00001
NM_001278716.2(FBXL4):c.906A>G (p.Arg302=) rs746193063 0.00001
NM_001278716.2(FBXL4):c.971A>G (p.Asn324Ser) rs115763595 0.00001
NC_000006.11:g.(?_99347124)_(99374864_?)del
NM_001278716.2(FBXL4):c.1007C>T (p.Ser336Phe)
NM_001278716.2(FBXL4):c.1056A>T (p.Leu352Phe) rs779748858
NM_001278716.2(FBXL4):c.1103+13C>A rs182076681
NM_001278716.2(FBXL4):c.1103+13C>G rs182076681
NM_001278716.2(FBXL4):c.1103+14C>T
NM_001278716.2(FBXL4):c.1104-11T>C
NM_001278716.2(FBXL4):c.1104-15A>G
NM_001278716.2(FBXL4):c.1104-4G>T rs370992555
NM_001278716.2(FBXL4):c.1137C>G (p.Arg379=)
NM_001278716.2(FBXL4):c.113T>C (p.Ile38Thr)
NM_001278716.2(FBXL4):c.114A>C (p.Ile38=)
NM_001278716.2(FBXL4):c.115G>A (p.Glu39Lys)
NM_001278716.2(FBXL4):c.1167T>C (p.Asn389=) rs1322745455
NM_001278716.2(FBXL4):c.116A>G (p.Glu39Gly)
NM_001278716.2(FBXL4):c.1200T>C (p.Cys400=)
NM_001278716.2(FBXL4):c.1224C>T (p.Leu408=)
NM_001278716.2(FBXL4):c.1277G>A (p.Cys426Tyr)
NM_001278716.2(FBXL4):c.1285A>C (p.Lys429Gln) rs1554218803
NM_001278716.2(FBXL4):c.1303C>A (p.Arg435=)
NM_001278716.2(FBXL4):c.1317+13del
NM_001278716.2(FBXL4):c.1318-12C>G
NM_001278716.2(FBXL4):c.1318-18T>C
NM_001278716.2(FBXL4):c.1318-4G>T
NM_001278716.2(FBXL4):c.1349G>C (p.Cys450Ser)
NM_001278716.2(FBXL4):c.1362G>A (p.Gln454=)
NM_001278716.2(FBXL4):c.1377C>T (p.Gly459=)
NM_001278716.2(FBXL4):c.1389+11G>A rs1770815162
NM_001278716.2(FBXL4):c.1390-1G>A
NM_001278716.2(FBXL4):c.1390-4C>G
NM_001278716.2(FBXL4):c.1403A>G (p.Asp468Gly)
NM_001278716.2(FBXL4):c.1421T>C (p.Ile474Thr)
NM_001278716.2(FBXL4):c.1431G>A (p.Lys477=) rs1582359691
NM_001278716.2(FBXL4):c.1443C>A (p.Leu481=) rs1168654660
NM_001278716.2(FBXL4):c.1452G>A (p.Leu484=)
NM_001278716.2(FBXL4):c.1497A>G (p.Glu499=)
NM_001278716.2(FBXL4):c.1502C>A (p.Ala501Asp)
NM_001278716.2(FBXL4):c.1518A>G (p.Leu506=) rs556881504
NM_001278716.2(FBXL4):c.1531G>T (p.Asp511Tyr)
NM_001278716.2(FBXL4):c.1587A>G (p.Ala529=) rs1582359148
NM_001278716.2(FBXL4):c.1615T>C (p.Phe539Leu)
NM_001278716.2(FBXL4):c.1628A>G (p.Asn543Ser)
NM_001278716.2(FBXL4):c.1641_1642del (p.Cys547_Asp548delinsTer) rs765882664
NM_001278716.2(FBXL4):c.1655A>G (p.Asp552Gly)
NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr) rs995995791
NM_001278716.2(FBXL4):c.1696A>G (p.Ile566Val) rs2128375513
NM_001278716.2(FBXL4):c.1699T>C (p.Leu567=) rs183776114
NM_001278716.2(FBXL4):c.16C>T (p.Pro6Ser)
NM_001278716.2(FBXL4):c.1702+11A>T rs369407577
NM_001278716.2(FBXL4):c.1702+14A>G
NM_001278716.2(FBXL4):c.1702+18A>G rs776605924
NM_001278716.2(FBXL4):c.1703-36TGTTT[3]
NM_001278716.2(FBXL4):c.1703-36TGTTT[4]
NM_001278716.2(FBXL4):c.1703-36TGTTT[6] rs377666976
NM_001278716.2(FBXL4):c.1703-5A>C
NM_001278716.2(FBXL4):c.1704A>G (p.Gly568=)
NM_001278716.2(FBXL4):c.1716A>G (p.Val572=)
NM_001278716.2(FBXL4):c.1721C>T (p.Pro574Leu) rs779731686
NM_001278716.2(FBXL4):c.1757A>G (p.Asp586Gly)
NM_001278716.2(FBXL4):c.1763C>G (p.Ser588Cys)
NM_001278716.2(FBXL4):c.1784G>C (p.Cys595Ser) rs2128374842
NM_001278716.2(FBXL4):c.1788G>A (p.Ser596=) rs745713189
NM_001278716.2(FBXL4):c.1831C>G (p.Pro611Ala) rs1770575412
NM_001278716.2(FBXL4):c.1846A>G (p.Lys616Glu)
NM_001278716.2(FBXL4):c.1852_1853del (p.Ser618fs)
NM_001278716.2(FBXL4):c.192T>C (p.His64=)
NM_001278716.2(FBXL4):c.207T>C (p.Asn69=)
NM_001278716.2(FBXL4):c.249T>C (p.Asn83=) rs372346466
NM_001278716.2(FBXL4):c.255C>T (p.Phe85=)
NM_001278716.2(FBXL4):c.28G>C (p.Val10Leu)
NM_001278716.2(FBXL4):c.296C>A (p.Thr99Asn)
NM_001278716.2(FBXL4):c.355C>A (p.Pro119Thr)
NM_001278716.2(FBXL4):c.35C>G (p.Thr12Ser)
NM_001278716.2(FBXL4):c.36C>G (p.Thr12=) rs749635212
NM_001278716.2(FBXL4):c.36C>T (p.Thr12=)
NM_001278716.2(FBXL4):c.379G>A (p.Val127Met)
NM_001278716.2(FBXL4):c.422A>G (p.His141Arg)
NM_001278716.2(FBXL4):c.436T>A (p.Tyr146Asn)
NM_001278716.2(FBXL4):c.443C>T (p.Pro148Leu) rs755008031
NM_001278716.2(FBXL4):c.444C>T (p.Pro148=)
NM_001278716.2(FBXL4):c.447A>G (p.Gly149=)
NM_001278716.2(FBXL4):c.456T>C (p.Ile152=)
NM_001278716.2(FBXL4):c.45T>G (p.Tyr15Ter) rs372735676
NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter) rs1562245046
NM_001278716.2(FBXL4):c.49A>T (p.Ile17Leu) rs754509338
NM_001278716.2(FBXL4):c.50T>C (p.Ile17Thr)
NM_001278716.2(FBXL4):c.512+3A>G
NM_001278716.2(FBXL4):c.513-13C>G rs200592647
NM_001278716.2(FBXL4):c.513-13C>T
NM_001278716.2(FBXL4):c.513-5G>A
NM_001278716.2(FBXL4):c.527G>A (p.Trp176Ter) rs201858974
NM_001278716.2(FBXL4):c.537A>T (p.Arg179Ser)
NM_001278716.2(FBXL4):c.561A>G (p.Gln187=)
NM_001278716.2(FBXL4):c.601C>T (p.Pro201Ser) rs746878388
NM_001278716.2(FBXL4):c.613A>G (p.Ile205Val)
NM_001278716.2(FBXL4):c.618_621dup (p.Glu208fs) rs886041625
NM_001278716.2(FBXL4):c.627_633del (p.Asn210fs) rs1582425360
NM_001278716.2(FBXL4):c.639T>C (p.Leu213=)
NM_001278716.2(FBXL4):c.65G>C (p.Arg22Pro) rs147696366
NM_001278716.2(FBXL4):c.666A>C (p.Ala222=) rs781455701
NM_001278716.2(FBXL4):c.666A>G (p.Ala222=)
NM_001278716.2(FBXL4):c.702T>C (p.Leu234=) rs1554221171
NM_001278716.2(FBXL4):c.72G>T (p.Arg24Ser)
NM_001278716.2(FBXL4):c.738A>T (p.Ile246=)
NM_001278716.2(FBXL4):c.747T>A (p.Asp249Glu) rs138206466
NM_001278716.2(FBXL4):c.759A>G (p.Glu253=)
NM_001278716.2(FBXL4):c.75A>G (p.Thr25=)
NM_001278716.2(FBXL4):c.762G>T (p.Lys254Asn)
NM_001278716.2(FBXL4):c.780C>A (p.Asp260Glu)
NM_001278716.2(FBXL4):c.807T>C (p.Ala269=)
NM_001278716.2(FBXL4):c.813C>A (p.Leu271=)
NM_001278716.2(FBXL4):c.817G>C (p.Glu273Gln)
NM_001278716.2(FBXL4):c.827del (p.Asn276fs) rs1240941970
NM_001278716.2(FBXL4):c.858+12A>C
NM_001278716.2(FBXL4):c.858+7C>G
NM_001278716.2(FBXL4):c.858+9A>G
NM_001278716.2(FBXL4):c.929T>C (p.Leu310Pro) rs2128393288
NM_001278716.2(FBXL4):c.951T>C (p.Pro317=)
NM_001278716.2(FBXL4):c.952C>T (p.Leu318=)
NM_001278716.2(FBXL4):c.954G>A (p.Leu318=) rs762811521
NM_001278716.2(FBXL4):c.961A>G (p.Ile321Val) rs765148228
NM_001278716.2(FBXL4):c.986G>A (p.Trp329Ter)
NM_001278716.2(FBXL4):c.989C>G (p.Ala330Gly) rs368886622
NM_001278716.2(FBXL4):c.998A>G (p.Asp333Gly)
NM_001278716.2(FBXL4):c.9G>C (p.Pro3=) rs773041308

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