ClinVar Miner

List of variants in gene CLN3 reported as likely benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000086.2(CLN3):c.1191C>T (p.Ala397=) rs779338007
NM_000086.2(CLN3):c.1197+8T>C rs587780895
NM_000086.2(CLN3):c.1209G>A (p.Glu403=) rs377369610
NM_000086.2(CLN3):c.1230G>A (p.Ala410=) rs201206239
NM_000086.2(CLN3):c.126-4C>A rs1555469191
NM_000086.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015
NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_000086.2(CLN3):c.327C>T (p.Leu109=) rs748293490
NM_000086.2(CLN3):c.375-19_375-4dup rs755313503
NM_000086.2(CLN3):c.420C>G (p.Val140=) rs544119921
NM_000086.2(CLN3):c.516C>T (p.Leu172=) rs148846795
NM_000086.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_000086.2(CLN3):c.962+7G>A rs1555468172
NM_000086.2(CLN3):c.963-63_963-44dup rs1555468153
NM_000086.2(CLN3):c.975G>A (p.Leu325=) rs150174473
NM_000086.2(CLN3):c.987C>T (p.Gly329=) rs777779035

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.