ClinVar Miner

List of variants in gene CBL studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.591-176A>G rs2510150 0.97528
NM_005188.4(CBL):c.870-48G>C rs2511854 0.62073
NM_005188.4(CBL):c.1095+19G>T rs2510152 0.61865
NM_005188.4(CBL):c.748-268A>G rs2276083 0.26391
NM_005188.4(CBL):c.1432-61G>T rs2298650 0.26254
NM_005188.4(CBL):c.2251+179G>A rs2186882 0.26100
NM_005188.4(CBL):c.2252-152T>C rs2511858 0.05303
NM_005188.4(CBL):c.2251+126G>A rs2186881 0.03393
NM_005188.4(CBL):c.2251+50G>C rs2509660 0.03228
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_005188.4(CBL):c.590+222C>G rs11217226 0.02037
NM_005188.4(CBL):c.1432-30G>C rs117834974 0.01912
NM_005188.4(CBL):c.2154-130A>T rs140888212 0.01755
NM_005188.4(CBL):c.747+79A>G rs112763616 0.01739
NM_005188.4(CBL):c.195+76G>C rs186044021 0.01688
NM_005188.4(CBL):c.444-282G>A rs115279244 0.00953
NM_005188.4(CBL):c.748-142G>A rs188887004 0.00751
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_005188.4(CBL):c.1942-89T>A rs146904799 0.00547
NM_005188.4(CBL):c.869+258C>A rs186556432 0.00495
NM_005188.4(CBL):c.869+212G>A rs61594171 0.00479
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_005188.4(CBL):c.*5632C>T rs143069410 0.00384
NM_005188.4(CBL):c.*2176T>C rs143211426 0.00375
NM_005188.4(CBL):c.*4031C>G rs117973382 0.00313
NM_005188.4(CBL):c.*567G>A rs573261482 0.00285
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_005188.4(CBL):c.*1918C>T rs528450894 0.00210
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_005188.4(CBL):c.870-19del rs548130600 0.00185
NM_005188.4(CBL):c.-26G>C rs202120613 0.00169
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005188.4(CBL):c.1431+116T>G rs147160530 0.00113
NM_005188.4(CBL):c.1227+26T>C rs200999333 0.00110
NM_005188.4(CBL):c.1227+20dup rs530081144 0.00095
NM_005188.4(CBL):c.*6703T>C rs562568416 0.00091
NM_005188.4(CBL):c.*918T>C rs541035764 0.00083
NM_005188.4(CBL):c.*6575G>C rs569180524 0.00077
NM_005188.4(CBL):c.2036+9G>T rs142704935 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_005188.4(CBL):c.*3154C>T rs112984401 0.00073
NM_005188.4(CBL):c.*2224A>G rs550910545 0.00065
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_005188.4(CBL):c.*615C>T rs769151797 0.00047
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln) rs150811339 0.00036
NM_005188.4(CBL):c.*39G>A rs17848890 0.00035
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg) rs143264567 0.00035
NM_005188.4(CBL):c.2251+40T>G rs377643990 0.00034
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_005188.4(CBL):c.1942-23C>T rs200647693 0.00025
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) rs146250423 0.00019
NM_005188.4(CBL):c.1871T>C (p.Leu624Ser) rs150550899 0.00014
NM_005188.4(CBL):c.2513G>T (p.Gly838Val) rs144191570 0.00014
NM_005188.4(CBL):c.-5A>G rs552214111 0.00013
NM_005188.4(CBL):c.1459A>G (p.Met487Val) rs17848896 0.00012
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu) rs146705974 0.00012
NM_005188.4(CBL):c.2360G>A (p.Arg787His) rs200220863 0.00011
NM_005188.4(CBL):c.2312A>T (p.Asp771Val) rs199788586 0.00010
NM_005188.4(CBL):c.2542G>A (p.Ala848Thr) rs141710973 0.00010
NM_005188.4(CBL):c.1566T>C (p.Ala522=) rs371065029 0.00009
NM_005188.4(CBL):c.873T>C (p.Tyr291=) rs756526812 0.00009
NM_005188.4(CBL):c.195+13C>T rs893347300 0.00008
NM_005188.4(CBL):c.1299G>A (p.Pro433=) rs199633558 0.00007
NM_005188.4(CBL):c.1443G>T (p.Pro481=) rs768111719 0.00007
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys) rs187952822 0.00006
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986 0.00006
NM_005188.4(CBL):c.2252-8T>C rs555179188 0.00006
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys) rs148139669 0.00006
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala) rs538054260 0.00005
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005188.4(CBL):c.1723A>G (p.Arg575Gly) rs374515645 0.00005
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00004
NM_005188.4(CBL):c.1564-18T>C rs754540533 0.00004
NM_005188.4(CBL):c.1911C>T (p.Leu637=) rs552760421 0.00004
NM_005188.4(CBL):c.2073A>G (p.Gln691=) rs140298671 0.00004
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276 0.00004
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys) rs746795014 0.00004
NM_005188.4(CBL):c.1096-20T>C rs773473702 0.00003
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu) rs373989524 0.00003
NM_005188.4(CBL):c.1495C>A (p.Arg499=) rs778927765 0.00003
NM_005188.4(CBL):c.2666A>G (p.Lys889Arg) rs1369884955 0.00003
NM_005188.4(CBL):c.869+15G>A rs761328610 0.00003
NM_005188.4(CBL):c.*3503C>T rs1950113873 0.00002
NM_005188.4(CBL):c.1211G>A (p.Cys404Tyr) rs192712314 0.00002
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_005188.4(CBL):c.1468C>G (p.Gln490Glu) rs1368426444 0.00002
NM_005188.4(CBL):c.1651C>T (p.Pro551Ser) rs200305176 0.00002
NM_005188.4(CBL):c.1783A>G (p.Ile595Val) rs775675805 0.00002
NM_005188.4(CBL):c.1941+17A>T rs752171870 0.00002
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln) rs144894769 0.00002
NM_005188.4(CBL):c.2350G>A (p.Val784Met) rs140725852 0.00002
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln) rs751198294 0.00002
NM_005188.4(CBL):c.286C>T (p.Arg96Cys) rs147438359 0.00002
NM_005188.4(CBL):c.698A>G (p.Asn233Ser) rs143276937 0.00002
NM_005188.4(CBL):c.825C>T (p.Asp275=) rs751768529 0.00002
NM_005188.4(CBL):c.1008-8C>T rs1172261425 0.00001
NM_005188.4(CBL):c.1027C>T (p.Arg343Ter) rs765471101 0.00001
NM_005188.4(CBL):c.1096-1G>T rs397517076 0.00001
NM_005188.4(CBL):c.1111T>C (p.Tyr371His) rs267606706 0.00001
NM_005188.4(CBL):c.1178T>C (p.Ile393Thr) rs775272530 0.00001
NM_005188.4(CBL):c.1227+5G>A rs756550704 0.00001
NM_005188.4(CBL):c.1228-1G>A rs587777540 0.00001
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu) rs140627020 0.00001
NM_005188.4(CBL):c.1320C>T (p.Gly440=) rs794727972 0.00001
NM_005188.4(CBL):c.1558T>C (p.Ser520Pro) rs371686364 0.00001
NM_005188.4(CBL):c.1649G>A (p.Arg550Gln) rs1949973841 0.00001
NM_005188.4(CBL):c.1735C>T (p.Pro579Ser) rs752260506 0.00001
NM_005188.4(CBL):c.1804G>T (p.Ala602Ser) rs1365230067 0.00001
NM_005188.4(CBL):c.1891A>G (p.Arg631Gly) rs552590011 0.00001
NM_005188.4(CBL):c.202C>T (p.Arg68Trp) rs730880429 0.00001
NM_005188.4(CBL):c.203G>A (p.Arg68Gln) rs901321242 0.00001
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser) rs730880428 0.00001
NM_005188.4(CBL):c.2125C>T (p.Arg709Trp) rs587778155 0.00001
NM_005188.4(CBL):c.2153+10C>T rs745316113 0.00001
NM_005188.4(CBL):c.2222C>T (p.Ala741Val) rs763213265 0.00001
NM_005188.4(CBL):c.2230A>G (p.Ile744Val) rs1422371091 0.00001
NM_005188.4(CBL):c.2316T>G (p.Asp772Glu) rs774428573 0.00001
NM_005188.4(CBL):c.2414_2416dup (p.Leu805_Asp806insVal) rs777761446 0.00001
NM_005188.4(CBL):c.2432C>T (p.Thr811Ile) rs749068285 0.00001
NM_005188.4(CBL):c.2503C>T (p.Arg835Trp) rs368696716 0.00001
NM_005188.4(CBL):c.2533G>A (p.Gly845Ser) rs997859448 0.00001
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys) rs397507498 0.00001
NM_005188.4(CBL):c.2692A>G (p.Ile898Val) rs397507499 0.00001
NM_005188.4(CBL):c.469A>G (p.Ile157Val) rs730880430 0.00001
NM_005188.4(CBL):c.525G>T (p.Gln175His) rs754381153 0.00001
NM_005188.4(CBL):c.539G>A (p.Arg180Gln) rs730880431 0.00001
NM_005188.4(CBL):c.595A>G (p.Ile199Val) rs397517082 0.00001
NM_005188.4(CBL):c.839G>A (p.Arg280Gln) rs145155035 0.00001
NM_005188.4(CBL):c.*6886G>A
NM_005188.4(CBL):c.-44AGCCG[3] rs759977063
NM_005188.4(CBL):c.1007+240_1007+243del rs139332955
NM_005188.4(CBL):c.1061A>G (p.Glu354Gly) rs2135302977
NM_005188.4(CBL):c.1069C>T (p.Pro357Ser) rs2135302988
NM_005188.4(CBL):c.1078C>T (p.His360Tyr) rs933954615
NM_005188.4(CBL):c.1091_1095+4del
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1096-7A>G rs1057517968
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.4(CBL):c.1100A>G (p.Gln367Arg) rs267606704
NM_005188.4(CBL):c.1103_1108del (p.Tyr368_Glu369del)
NM_005188.4(CBL):c.1111T>G (p.Tyr371Asp)
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys) rs387906666
NM_005188.4(CBL):c.1119G>T (p.Glu373Asp) rs571152174
NM_005188.4(CBL):c.1123G>C (p.Gly375Arg)
NM_005188.4(CBL):c.1134C>A (p.Phe378Leu) rs749897878
NM_005188.4(CBL):c.1141T>C (p.Cys381Arg) rs757874631
NM_005188.4(CBL):c.1142G>T (p.Cys381Phe)
NM_005188.4(CBL):c.1144A>G (p.Lys382Glu) rs267606705
NM_005188.4(CBL):c.1150T>C (p.Cys384Arg) rs387906664
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly) rs2135303762
NM_005188.4(CBL):c.1166A>C (p.Lys389Thr) rs1949904868
NM_005188.4(CBL):c.1169A>T (p.Asp390Val) rs763058208
NM_005188.4(CBL):c.1178T>A (p.Ile393Asn)
NM_005188.4(CBL):c.1186T>C (p.Cys396Arg) rs387906665
NM_005188.4(CBL):c.1193A>G (p.His398Arg) rs1303812580
NM_005188.4(CBL):c.1195C>T (p.Leu399Phe) rs2135303846
NM_005188.4(CBL):c.1199T>G (p.Met400Arg) rs397507491
NM_005188.4(CBL):c.1201T>C (p.Cys401Arg) rs397507492
NM_005188.4(CBL):c.1220C>T (p.Ser407Phe)
NM_005188.4(CBL):c.1222T>C (p.Trp408Arg) rs755557498
NM_005188.4(CBL):c.1224G>C (p.Trp408Cys) rs2135303916
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005188.4(CBL):c.1229A>T (p.Glu410Val)
NM_005188.4(CBL):c.1237G>C (p.Gly413Arg) rs371679886
NM_005188.4(CBL):c.1247G>C (p.Cys416Ser) rs757456261
NM_005188.4(CBL):c.1252T>G (p.Phe418Val) rs745896960
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser) rs772156285
NM_005188.4(CBL):c.1274G>A (p.Gly425Asp) rs1949908282
NM_005188.4(CBL):c.1296T>C (p.Asp432=) rs1188095865
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln) rs140627020
NM_005188.4(CBL):c.1321A>C (p.Ser441Arg)
NM_005188.4(CBL):c.1351C>G (p.Pro451Ala) rs886041313
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005188.4(CBL):c.1366G>T (p.Asp456Tyr) rs886041472
NM_005188.4(CBL):c.1384C>T (p.Arg462Ter) rs886041425
NM_005188.4(CBL):c.1401_1402del (p.Phe468fs) rs2135304862
NM_005188.4(CBL):c.1438C>T (p.Arg480Trp)
NM_005188.4(CBL):c.1470A>G (p.Gln490=)
NM_005188.4(CBL):c.1492_1496delinsTCACT (p.Pro498_Arg499delinsSerLeu) rs2135310035
NM_005188.4(CBL):c.1516C>G (p.Arg506Gly) rs886041500
NM_005188.4(CBL):c.1606C>T (p.Pro536Ser)
NM_005188.4(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005188.4(CBL):c.1697C>G (p.Pro566Arg) rs1428398685
NM_005188.4(CBL):c.1727A>G (p.Asp576Gly)
NM_005188.4(CBL):c.1754G>A (p.Arg585His) rs727504640
NM_005188.4(CBL):c.1771C>G (p.Leu591Val) rs1060500679
NM_005188.4(CBL):c.1778G>A (p.Arg593Gln) rs730880435
NM_005188.4(CBL):c.1801T>C (p.Ser601Pro) rs1271364778
NM_005188.4(CBL):c.1823C>A (p.Pro608His) rs397507495
NM_005188.4(CBL):c.192C>G (p.Asp64Glu) rs1565851628
NM_005188.4(CBL):c.1931A>T (p.Asp644Val)
NM_005188.4(CBL):c.193A>C (p.Lys65Gln)
NM_005188.4(CBL):c.195+12G>T rs1040283004
NM_005188.4(CBL):c.195+22C>T rs371907332
NM_005188.4(CBL):c.1961TAG[1] (p.Val655del) rs2135312902
NM_005188.4(CBL):c.1991T>C (p.Ile664Thr) rs397507496
NM_005188.4(CBL):c.2037-9A>C rs1591269676
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser) rs587778154
NM_005188.4(CBL):c.2056C>G (p.Leu686Val)
NM_005188.4(CBL):c.2090A>C (p.Asp697Ala) rs1565272122
NM_005188.4(CBL):c.2097G>C (p.Glu699Asp) rs1057519031
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala) rs1229733932
NM_005188.4(CBL):c.2111C>T (p.Ser704Phe)
NM_005188.4(CBL):c.2190G>A (p.Thr730=) rs143840974
NM_005188.4(CBL):c.2212C>G (p.Gln738Glu)
NM_005188.4(CBL):c.2251+14_2251+22del rs568433114
NM_005188.4(CBL):c.2251+224dup rs542161260
NM_005188.4(CBL):c.2251+261G>A rs60489121
NM_005188.4(CBL):c.2252-1G>C
NM_005188.4(CBL):c.2252-2A>G rs1950077587
NM_005188.4(CBL):c.2258G>C (p.Gly753Ala) rs2135320936
NM_005188.4(CBL):c.229C>A (p.Leu77Ile)
NM_005188.4(CBL):c.2417A>T (p.Asp806Val)
NM_005188.4(CBL):c.251T>G (p.Ile84Ser) rs779595064
NM_005188.4(CBL):c.2606A>G (p.Tyr869Cys)
NM_005188.4(CBL):c.2614C>G (p.Gln872Glu) rs746795014
NM_005188.4(CBL):c.2659A>G (p.Met887Val)
NM_005188.4(CBL):c.2680G>T (p.Glu894Ter)
NM_005188.4(CBL):c.306T>G (p.Tyr102Ter) rs397507489
NM_005188.4(CBL):c.347G>T (p.Arg116Met) rs748412298
NM_005188.4(CBL):c.357G>A (p.Met119Ile) rs1490142046
NM_005188.4(CBL):c.392G>A (p.Ser131Asn)
NM_005188.4(CBL):c.393C>T (p.Ser131=)
NM_005188.4(CBL):c.444-73G>T rs114337885
NM_005188.4(CBL):c.445C>T (p.Arg149Ter) rs267602720
NM_005188.4(CBL):c.467T>G (p.Leu156Arg) rs759473597
NM_005188.4(CBL):c.481A>G (p.Met161Val)
NM_005188.4(CBL):c.498A>C (p.Lys166Asn) rs1565870421
NM_005188.4(CBL):c.500G>A (p.Gly167Glu)
NM_005188.4(CBL):c.561G>A (p.Ala187=)
NM_005188.4(CBL):c.622G>A (p.Ala208Thr) rs2135298769
NM_005188.4(CBL):c.627A>G (p.Leu209=) rs1057524651
NM_005188.4(CBL):c.656T>C (p.Leu219Pro) rs895664191
NM_005188.4(CBL):c.729C>T (p.Ile243=)
NM_005188.4(CBL):c.747+143del rs200481838
NM_005188.4(CBL):c.747+73_747+74del rs373788107
NM_005188.4(CBL):c.747+74dup rs373788107
NM_005188.4(CBL):c.773G>A (p.Trp258Ter)
NM_005188.4(CBL):c.869+44dup rs3842642
NM_005188.4(CBL):c.896G>C (p.Arg299Pro)
NM_005188.4(CBL):c.938A>G (p.Asn313Ser)
NM_005188.4(CBL):c.976del (p.Gln326fs) rs730880436

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