ClinVar Miner

List of variants reported as benign for adolescent-onset epilepsy syndrome by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000744.6(CHRNA4):c.1758+14A>G rs3827020
NM_000744.6(CHRNA4):c.189C>T (p.Leu63=) rs2273506
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_004287.4(GOSR2):c.-12G>C rs183199
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822
NM_005506.4(SCARB2):c.475A>G (p.Met159Val) rs143655258
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673

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.