ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic for Retinal dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_206933.2(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.2(USH2A):c.14350G>T (p.Glu4784Ter) rs746837034
NM_206933.2(USH2A):c.1558delT (p.Cys520Alafs) rs878853410
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.2(USH2A):c.2661C>G (p.Tyr887Ter) rs878853408
NM_206933.2(USH2A):c.3327C>A (p.Tyr1109Ter) rs758705873
NM_206933.2(USH2A):c.4321G>T (p.Glu1441Ter) rs869312186
NM_206933.2(USH2A):c.6470delG (p.Arg2157Lysfs) rs878853414

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.