ClinVar Miner

List of variants in gene CLN3 studied for Retinitis pigmentosa

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000086.2(CLN3):c.(374+1_375-1)_(533+1_534-1)del
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.379del (p.Arg127fs) rs386833717
NM_000086.2(CLN3):c.461-279_677+384del rs1555468632
NM_000086.2(CLN3):c.837+5G>A rs756848924
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000086.2(CLN3):c.988G>A (p.Val330Ile) rs386833744

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.