ClinVar Miner

List of variants in gene CRYBB3 studied for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004076.5(CRYBB3):c.-20-13T>C rs2269672 0.60613
NM_004076.5(CRYBB3):c.337C>G (p.His113Asp) rs9608378 0.58489
NM_004076.5(CRYBB3):c.471-6C>T rs13055430 0.06273
NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln) rs17670506 0.04579
NM_004076.5(CRYBB3):c.567G>A (p.Pro189=) rs144842183 0.01025
NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile) rs4455261 0.00874
NM_004076.5(CRYBB3):c.38C>G (p.Ala13Gly) rs147831812 0.00394
NM_004076.5(CRYBB3):c.125C>T (p.Ser42Leu) rs145770544 0.00202
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter) rs147328317 0.00135
NM_004076.5(CRYBB3):c.6G>A (p.Ala2=) rs144393956 0.00119
NM_004076.5(CRYBB3):c.75+18G>A rs141199896 0.00063
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.263G>A (p.Arg88His) rs138167578 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.*129G>A rs561311265 0.00010
NM_004076.5(CRYBB3):c.531G>T (p.Glu177Asp) rs201027853 0.00009
NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile) rs200457939 0.00006
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.327+13C>T rs1013210463 0.00002
NM_004076.5(CRYBB3):c.*143C>T rs886057294 0.00001
NM_004076.5(CRYBB3):c.116G>T (p.Cys39Phe) rs1232309133 0.00001
NM_004076.5(CRYBB3):c.328-8G>A rs756648232 0.00001
NM_004076.5(CRYBB3):c.379C>T (p.Arg127Cys) rs200985752 0.00001
NM_004076.5(CRYBB3):c.454C>T (p.Arg152Cys) rs375275387 0.00001
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg) rs1203386884 0.00001
NM_004076.5(CRYBB3):c.506G>A (p.Arg169His) rs374984300 0.00001
NM_004076.5(CRYBB3):c.51T>C (p.His17=) rs1449380333 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
NC_000022.10:g.(?_25601167)_(25601349_?)dup
NM_004076.4(CRYBB3):c.[493G>C];[493G>C] rs74315490
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.157C>A (p.Leu53Met) rs1363417170
NM_004076.5(CRYBB3):c.159_160insTCG (p.Leu53_Glu54insSer)
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
NM_004076.5(CRYBB3):c.287G>A (p.Arg96His)
NM_004076.5(CRYBB3):c.392T>G (p.Ile131Arg)
NM_004076.5(CRYBB3):c.467G>A (p.Gly156Glu)
NM_004076.5(CRYBB3):c.471-5G>A rs776776705
NM_004076.5(CRYBB3):c.492C>A (p.Pro164=) rs139487214
NM_004076.5(CRYBB3):c.503G>A (p.Gly168Glu) rs1935047601
NM_004076.5(CRYBB3):c.528C>A (p.Gly176=)
NM_004076.5(CRYBB3):c.581T>A (p.Val194Glu) rs587777601
NM_004076.5(CRYBB3):c.75+7G>C
NM_004076.5(CRYBB3):c.96G>T (p.Glu32Asp)
NM_004076.5(CRYBB3):c.99C>T (p.Asn33=)

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.