ClinVar Miner

List of variants in gene CBL reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
Download table as spreadsheet
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.870-19del rs548130600 0.00185
NM_005188.4(CBL):c.1431+116T>G rs147160530 0.00113
NM_005188.4(CBL):c.*39G>A rs17848890 0.00035
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.-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.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.1564-18T>C rs754540533 0.00004
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp) rs397507497 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.1829C>A (p.Thr610Lys) rs730880427 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.1754G>A (p.Arg585His) rs727504640
NM_005188.4(CBL):c.195+22C>T rs371907332
NM_005188.4(CBL):c.204G>T (p.Arg68=) rs1193552867
NM_005188.4(CBL):c.2251+14_2251+22del rs568433114
NM_005188.4(CBL):c.2251+224dup rs542161260
NM_005188.4(CBL):c.444-73G>T rs114337885
NM_005188.4(CBL):c.627A>G (p.Leu209=) rs1057524651
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.869+18A>G rs1432059209

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.