ClinVar Miner

List of variants in gene CRYBB2 reported as likely pathogenic for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000496.3(CRYBB2):c.173C>T (p.Pro58Leu) rs763268420 0.00001
NM_000496.3(CRYBB2):c.161T>G (p.Val54Gly) rs1555888762
NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg) rs864309698
NM_000496.3(CRYBB2):c.427T>C (p.Ser143Pro)
NM_000496.3(CRYBB2):c.446G>T (p.Gly149Val) rs1935496594
NM_000496.3(CRYBB2):c.551T>G (p.Val184Gly) rs1555889308
NM_000496.3(CRYBB2):c.562C>T (p.Arg188Cys) rs2146095454

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.