ClinVar Miner

List of variants in gene CBL reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.1095+19G>T rs2510152 0.61865
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177 0.03391
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
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.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_005188.4(CBL):c.869+19A>G rs181589369 0.00232
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.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.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.1227+4C>T rs201747825 0.00048
NM_005188.4(CBL):c.1564-13C>T rs117902985 0.00039
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln) rs150811339 0.00036
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg) rs143264567 0.00035
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) rs146250423 0.00019
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.1432-6C>T rs371919794 0.00011
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.2268C>T (p.Ala756=) rs142564074 0.00009
NM_005188.4(CBL):c.590+20A>G rs769677676 0.00009
NM_005188.4(CBL):c.2349C>T (p.Ala783=) rs552509693 0.00008
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 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.1423G>A (p.Gly475Ser) rs764599897 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.1528C>G (p.Pro510Ala) rs538054260 0.00005
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp) rs112330156 0.00005
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00004
NM_005188.4(CBL):c.1648C>T (p.Arg550Trp) rs202065722 0.00004
NM_005188.4(CBL):c.1942-17T>C rs907111206 0.00004
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276 0.00004
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu) rs373989524 0.00003
NM_005188.4(CBL):c.516A>G (p.Gly172=) rs765968487 0.00003
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_005188.4(CBL):c.1563+16T>G rs767609973 0.00002
NM_005188.4(CBL):c.1783A>G (p.Ile595Val) rs775675805 0.00002
NM_005188.4(CBL):c.195+14T>G rs1011872703 0.00002
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln) rs144894769 0.00002
NM_005188.4(CBL):c.2235C>T (p.Thr745=) rs763880494 0.00002
NM_005188.4(CBL):c.2287G>A (p.Gly763Ser) rs1454216416 0.00002
NM_005188.4(CBL):c.664A>C (p.Met222Leu) rs773611782 0.00002
NM_005188.4(CBL):c.1074A>G (p.Gln358=) rs1060500678 0.00001
NM_005188.4(CBL):c.1244G>T (p.Gly415Val) rs1388592245 0.00001
NM_005188.4(CBL):c.1288G>A (p.Val430Met) rs991981291 0.00001
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu) rs140627020 0.00001
NM_005188.4(CBL):c.1637C>T (p.Pro546Leu) rs751274314 0.00001
NM_005188.4(CBL):c.1925G>T (p.Ser642Ile) rs571045498 0.00001
NM_005188.4(CBL):c.2155G>A (p.Ala719Thr) rs757126995 0.00001
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg) rs587778159 0.00001
NM_005188.4(CBL):c.2533G>A (p.Gly845Ser) rs997859448 0.00001
NM_005188.4(CBL):c.469A>G (p.Ile157Val) rs730880430 0.00001
NM_005188.4(CBL):c.573A>G (p.Arg191=) rs1254459327 0.00001
NM_005188.4(CBL):c.1095+18_1095+19delinsGT rs2135303045
NM_005188.4(CBL):c.1168G>C (p.Asp390His) rs267606707
NM_005188.4(CBL):c.1193A>G (p.His398Arg) rs1303812580
NM_005188.4(CBL):c.1228-10dup rs397517078
NM_005188.4(CBL):c.1228-20_1228-17del rs370327162
NM_005188.4(CBL):c.1298del (p.Pro433fs)
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005188.4(CBL):c.1431+10C>T
NM_005188.4(CBL):c.1512G>T (p.Pro504=) rs758285751
NM_005188.4(CBL):c.1538C>T (p.Ala513Val) rs1949970576
NM_005188.4(CBL):c.1564-16C>T rs992126448
NM_005188.4(CBL):c.1705_1707del (p.Pro569del) rs2135310558
NM_005188.4(CBL):c.1739C>T (p.Pro580Leu)
NM_005188.4(CBL):c.195+12_195+13delinsTT rs1949271281
NM_005188.4(CBL):c.1986C>G (p.Pro662=) rs1949996439
NM_005188.4(CBL):c.2052A>C (p.Pro684=) rs886047771
NM_005188.4(CBL):c.2087A>G (p.Glu696Gly) rs1354142112
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala) rs1229733932
NM_005188.4(CBL):c.2154-8T>C
NM_005188.4(CBL):c.2246C>T (p.Thr749Ile) rs2135320235
NM_005188.4(CBL):c.2279_2346dup (p.Ala783fs) rs1950077753
NM_005188.4(CBL):c.2282_2362dup (p.Arg787_Arg788insHisThrGlyProGluGluSerGluAsnGluAspAspGlyTyrAspValProLysProProValProAlaValLeuAlaArg) rs1950077794
NM_005188.4(CBL):c.2381C>T (p.Ser794Phe) rs201620100
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del) rs755938138
NM_005188.4(CBL):c.2471C>T (p.Pro824Leu) rs2135322034
NM_005188.4(CBL):c.2509G>A (p.Ala837Thr) rs1950086093
NM_005188.4(CBL):c.2589C>G (p.Asn863Lys) rs397517081
NM_005188.4(CBL):c.2603G>T (p.Gly868Val) rs1950087495
NM_005188.4(CBL):c.2684T>C (p.Phe895Ser)
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.445C>T (p.Arg149Ter) rs267602720
NM_005188.4(CBL):c.590+20A>T
NM_005188.4(CBL):c.747+3A>G rs1592398477
NM_005188.4(CBL):c.747+8A>T
NM_005188.4(CBL):c.791C>T (p.Thr264Ile)
NM_005188.4(CBL):c.869+44dup rs3842642

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