ClinVar Miner

List of variants reported as uncertain significance for cataract 22 multiple types by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_004076.5(CRYBB3):c.*103C>T rs886057293
NM_004076.5(CRYBB3):c.*143C>T rs886057294
NM_004076.5(CRYBB3):c.-57C>G
NM_004076.5(CRYBB3):c.-61C>T
NM_004076.5(CRYBB3):c.136C>T (p.Pro46Ser)
NM_004076.5(CRYBB3):c.144G>A (p.Leu48=) rs886057291
NM_004076.5(CRYBB3):c.174C>T (p.Ser58=) rs886057292
NM_004076.5(CRYBB3):c.189C>T (p.Ser63=)
NM_004076.5(CRYBB3):c.194+1G>T rs200444299
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=) rs201863246
NM_004076.5(CRYBB3):c.224G>A (p.Arg75His)
NM_004076.5(CRYBB3):c.224G>T (p.Arg75Leu)
NM_004076.5(CRYBB3):c.25G>A (p.Glu9Lys) rs367616021
NM_004076.5(CRYBB3):c.313C>T (p.Arg105Trp) rs376115617
NM_004076.5(CRYBB3):c.327+1G>T rs143187630
NM_004076.5(CRYBB3):c.328-8G>A
NM_004076.5(CRYBB3):c.379C>T (p.Arg127Cys) rs200985752
NM_004076.5(CRYBB3):c.380G>A (p.Arg127His) rs200584818
NM_004076.5(CRYBB3):c.454C>T (p.Arg152Cys)
NM_004076.5(CRYBB3):c.505C>T (p.Arg169Cys)
NM_004076.5(CRYBB3):c.506G>A (p.Arg169His) rs374984300
NM_004076.5(CRYBB3):c.524G>A (p.Arg175Gln)
NM_004076.5(CRYBB3):c.531G>T (p.Glu177Asp)
NM_004076.5(CRYBB3):c.536G>A (p.Arg179His)
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter) rs147328317
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His) rs147937174
NM_004076.5(CRYBB3):c.603G>T (p.Lys201Asn) rs142897070
NM_004076.5(CRYBB3):c.613C>T (p.Arg205Trp)
NM_004076.5(CRYBB3):c.620G>A (p.Arg207His)
NM_004076.5(CRYBB3):c.621C>T (p.Arg207=)

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.