ClinVar Miner

List of variants in gene CBL reported as likely benign for not specified

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.*560_*561insAT rs56722042 0.24273
NM_005188.4(CBL):c.*559_*560insC rs3833768 0.24253
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.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005188.4(CBL):c.1227+20dup rs530081144 0.00095
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.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.1432-6C>T rs371919794 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.2223G>A (p.Ala741=) rs202229538 0.00009
NM_005188.4(CBL):c.2268C>T (p.Ala756=) rs142564074 0.00009
NM_005188.4(CBL):c.1356C>T (p.Ser452=) rs150443504 0.00008
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.2216C>T (p.Ser739Phe) rs2227986 0.00006
NM_005188.4(CBL):c.869+10A>G rs768380727 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.1477C>T (p.Leu493Phe) rs730880434 0.00004
NM_005188.4(CBL):c.2073A>G (p.Gln691=) rs140298671 0.00004
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp) rs397507497 0.00004
NM_005188.4(CBL):c.1512G>A (p.Pro504=) rs758285751 0.00003
NM_005188.4(CBL):c.2691C>T (p.Ser897=) rs762560254 0.00003
NM_005188.4(CBL):c.516A>G (p.Gly172=) rs765968487 0.00003
NM_005188.4(CBL):c.869+15G>A rs761328610 0.00003
NM_005188.4(CBL):c.1927C>T (p.Leu643=) rs139939244 0.00002
NM_005188.4(CBL):c.2235C>T (p.Thr745=) rs763880494 0.00002
NM_005188.4(CBL):c.801C>G (p.Gly267=) rs727502913 0.00002
NM_005188.4(CBL):c.1071C>T (p.Pro357=) rs397517075 0.00001
NM_005188.4(CBL):c.1074A>G (p.Gln358=) rs1060500678 0.00001
NM_005188.4(CBL):c.1191A>G (p.Gly397=) rs761630653 0.00001
NM_005188.4(CBL):c.1829C>A (p.Thr610Lys) rs730880427 0.00001
NM_005188.4(CBL):c.2434+15dup rs397517079 0.00001
NM_005188.4(CBL):c.2583C>T (p.Ile861=) rs397517080 0.00001
NM_005188.4(CBL):c.2652C>T (p.Asn884=) rs879302360 0.00001
NM_005188.4(CBL):c.522T>C (p.Phe174=) rs727502912 0.00001
NM_005188.4(CBL):c.573A>G (p.Arg191=) rs1254459327 0.00001
NM_005188.4(CBL):c.1228-10dup rs397517078
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.1564-16C>T rs992126448
NM_005188.4(CBL):c.1962A>G (p.Leu654=) rs727502915
NM_005188.4(CBL):c.1986C>G (p.Pro662=) rs1949996439
NM_005188.4(CBL):c.204G>T (p.Arg68=) rs1193552867
NM_005188.4(CBL):c.2052A>C (p.Pro684=) rs886047771
NM_005188.4(CBL):c.748-21_748-20del rs773513557
NM_005188.4(CBL):c.869+18A>G rs1432059209
NM_005188.4(CBL):c.996C>T (p.Phe332=) rs2135301604

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