ClinVar Miner

List of variants in gene CBL reported as benign for not provided

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Gene type:
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Total variants: 43
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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.747+79A>G rs112763616 0.01739
NM_005188.4(CBL):c.195+76G>C rs186044021 0.01688
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.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.1227+26T>C rs200999333 0.00110
NM_005188.4(CBL):c.1227+20dup rs530081144 0.00095
NM_005188.4(CBL):c.*918T>C rs541035764 0.00083
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.*2224A>G rs550910545 0.00065
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.2251+40T>G rs377643990 0.00034
NM_005188.4(CBL):c.1459A>G (p.Met487Val) rs17848896 0.00012
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.2252-8T>C rs555179188 0.00006
NM_005188.4(CBL):c.2316T>G (p.Asp772Glu) rs774428573 0.00001
NM_005188.4(CBL):c.-44AGCCG[3] rs759977063
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005188.4(CBL):c.195+12G>T rs1040283004
NM_005188.4(CBL):c.2251+261G>A rs60489121
NM_005188.4(CBL):c.869+44dup rs3842642

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