ClinVar Miner

List of variants reported as uncertain significance for cataract 22 multiple types by Illumina Laboratory Services, 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 gnomAD frequency
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter) rs147328317 0.00135
NM_004076.5(CRYBB3):c.327+1G>T rs143187630 0.00052
NM_004076.5(CRYBB3):c.536G>A (p.Arg179His) rs149232677 0.00034
NM_004076.5(CRYBB3):c.620G>A (p.Arg207His) rs151051126 0.00034
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His) rs147937174 0.00017
NM_004076.5(CRYBB3):c.603G>T (p.Lys201Asn) rs142897070 0.00016
NM_004076.5(CRYBB3):c.-61C>T rs113563958 0.00014
NM_004076.5(CRYBB3):c.25G>A (p.Glu9Lys) rs367616021 0.00013
NM_004076.5(CRYBB3):c.313C>T (p.Arg105Trp) rs376115617 0.00011
NM_004076.5(CRYBB3):c.531G>T (p.Glu177Asp) rs201027853 0.00009
NM_004076.5(CRYBB3):c.380G>A (p.Arg127His) rs200584818 0.00006
NM_004076.5(CRYBB3):c.189C>T (p.Ser63=) rs147906885 0.00004
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=) rs201863246 0.00004
NM_004076.5(CRYBB3):c.505C>T (p.Arg169Cys) rs755475309 0.00004
NM_004076.5(CRYBB3):c.144G>A (p.Leu48=) rs886057291 0.00003
NM_004076.5(CRYBB3):c.379C>T (p.Arg127Cys) rs200985752 0.00003
NM_004076.5(CRYBB3):c.*143C>T rs886057294 0.00001
NM_004076.5(CRYBB3):c.328-8G>A rs756648232 0.00001
NM_004076.5(CRYBB3):c.454C>T (p.Arg152Cys) rs375275387 0.00001
NM_004076.5(CRYBB3):c.506G>A (p.Arg169His) rs374984300 0.00001
NM_004076.5(CRYBB3):c.524G>A (p.Arg175Gln) rs200791666 0.00001
NM_004076.5(CRYBB3):c.613C>T (p.Arg205Trp) rs752618205 0.00001
NM_004076.5(CRYBB3):c.621C>T (p.Arg207=) rs373954142 0.00001
NM_004076.5(CRYBB3):c.*103C>T rs886057293
NM_004076.5(CRYBB3):c.-57C>G rs777375397
NM_004076.5(CRYBB3):c.136C>T (p.Pro46Ser) rs780319207
NM_004076.5(CRYBB3):c.174C>T (p.Ser58=) rs886057292
NM_004076.5(CRYBB3):c.194+1G>T rs200444299
NM_004076.5(CRYBB3):c.224G>A (p.Arg75His) rs183587921
NM_004076.5(CRYBB3):c.224G>T (p.Arg75Leu) rs183587921

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.