ClinVar Miner

List of variants in gene CRYAB studied for Alpha-B crystallinopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_001289808.2(CRYAB):c.*38G>C rs781853968
NM_001289808.2(CRYAB):c.*39T>C rs782808506
NM_001289808.2(CRYAB):c.*60G>A
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704
NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn)
NM_001289808.2(CRYAB):c.325G>C (p.Asp109His) rs387907339
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142
NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly) rs104894201
NM_001289808.2(CRYAB):c.451C>T (p.Gln151Ter) rs104894202
NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs) rs1566402514
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) rs1592506005
NM_001289808.2(CRYAB):c.514del (p.Ala172fs)
NM_001289808.2(CRYAB):c.519del (p.Lys174fs)
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) rs4252582
NM_001289808.2(CRYAB):c.60del (p.Ser21fs) rs281865141

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.