ClinVar Miner

List of variants studied for cataract 17 multiple types by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001887.4(CRYBB1):c.432+15G>A rs181227194 0.00226
NM_001887.4(CRYBB1):c.328C>T (p.Arg110Cys) rs147206089 0.00220
NM_001887.4(CRYBB1):c.74G>A (p.Gly25Glu) rs77431464 0.00169
NM_001887.4(CRYBB1):c.156G>A (p.Ala52=) rs149902597 0.00087
NM_001887.4(CRYBB1):c.179G>C (p.Arg60Thr) rs139107757 0.00042
NM_001887.4(CRYBB1):c.744A>G (p.Thr248=) rs142495368 0.00036
NM_001887.4(CRYBB1):c.-7G>A rs200292741 0.00021
NM_001887.4(CRYBB1):c.282C>T (p.Ile94=) rs372418411 0.00008
NM_001887.4(CRYBB1):c.-6G>A rs200241940 0.00006
NM_001887.4(CRYBB1):c.292G>A (p.Ala98Thr) rs200002097 0.00006
NM_001887.4(CRYBB1):c.*67C>G rs144489412 0.00004
NM_001887.4(CRYBB1):c.274C>T (p.Arg92Cys) rs374800624 0.00002
NM_001887.4(CRYBB1):c.357C>T (p.Gly119=) rs763685652 0.00002
NM_001887.4(CRYBB1):c.294G>A (p.Ala98=) rs760235124 0.00001
NM_001887.4(CRYBB1):c.384G>A (p.Ser128=) rs370514627 0.00001
NM_001887.4(CRYBB1):c.448A>G (p.Lys150Glu) rs886057326 0.00001
NM_001887.4(CRYBB1):c.576-3C>A rs142497666 0.00001
NM_001887.4(CRYBB1):c.688C>A (p.Arg230Ser) rs762942964 0.00001
NM_001887.4(CRYBB1):c.-58C>T rs886057327
NM_001887.4(CRYBB1):c.13G>A (p.Ala5Thr) rs1929353737
NM_001887.4(CRYBB1):c.217C>T (p.Arg73Ter) rs762814574
NM_001887.4(CRYBB1):c.275G>A (p.Arg92His) rs750427170
NM_001887.4(CRYBB1):c.293C>A (p.Ala98Glu) rs144372140
NM_001887.4(CRYBB1):c.300-9T>G rs1929039318
NM_001887.4(CRYBB1):c.37G>A (p.Val13Met) rs747901309
NM_001887.4(CRYBB1):c.394C>G (p.Arg132Gly) rs148083686
NM_001887.4(CRYBB1):c.427A>G (p.Lys143Glu) rs764907340
NM_001887.4(CRYBB1):c.63C>A (p.Thr21=) rs1371584623

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.