ClinVar Miner

List of variants in gene CBL reported by AiLife Diagnostics, AiLife Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.*3503C>T rs1950113873 0.00002
NM_005188.4(CBL):c.286C>T (p.Arg96Cys) rs147438359 0.00002
NM_005188.4(CBL):c.1078C>T (p.His360Tyr) rs933954615
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys) rs387906666
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly) rs2135303762
NM_005188.4(CBL):c.1195C>T (p.Leu399Phe) rs2135303846
NM_005188.4(CBL):c.1224G>C (p.Trp408Cys) rs2135303916
NM_005188.4(CBL):c.1274G>A (p.Gly425Asp) rs1949908282
NM_005188.4(CBL):c.656T>C (p.Leu219Pro) rs895664191

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.