ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.2154-130A>T rs140888212 0.01755
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.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.*1918C>T rs528450894 0.00210
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
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+20dup rs530081144 0.00095
NM_005188.4(CBL):c.*6703T>C rs562568416 0.00091
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.1227+4C>T rs201747825 0.00048
NM_005188.4(CBL):c.*615C>T rs769151797 0.00047
NM_005188.4(CBL):c.*39G>A rs17848890 0.00035
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.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.1299G>A (p.Pro433=) rs199633558 0.00007
NM_005188.4(CBL):c.1443G>T (p.Pro481=) rs768111719 0.00007
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.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.1495C>A (p.Arg499=) rs778927765 0.00003
NM_005188.4(CBL):c.869+15G>A rs761328610 0.00003
NM_005188.4(CBL):c.1941+17A>T rs752171870 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.1804G>T (p.Ala602Ser) rs1365230067 0.00001
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser) rs730880428 0.00001
NM_005188.4(CBL):c.2153+10C>T rs745316113 0.00001
NM_005188.4(CBL):c.1007+240_1007+243del rs139332955
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005188.4(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005188.4(CBL):c.1754G>A (p.Arg585His) rs727504640
NM_005188.4(CBL):c.195+22C>T rs371907332
NM_005188.4(CBL):c.2037-9A>C rs1591269676
NM_005188.4(CBL):c.2251+14_2251+22del rs568433114
NM_005188.4(CBL):c.2251+224dup rs542161260
NM_005188.4(CBL):c.393C>T (p.Ser131=)
NM_005188.4(CBL):c.444-73G>T rs114337885
NM_005188.4(CBL):c.561G>A (p.Ala187=)
NM_005188.4(CBL):c.627A>G (p.Leu209=) rs1057524651
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

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