ClinVar Miner

List of variants reported as likely pathogenic for adolescent-onset epilepsy syndrome by Invitae

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NC_000007.13:g.(?_66098242)_(66098451_?)dup
NM_000086.2(CLN3):c.1056+3A>C rs386833698
NM_000086.2(CLN3):c.1056G>T (p.Gln352His)
NM_000086.2(CLN3):c.461-1G>T
NM_000310.3(PPT1):c.249_251CTT[2] (p.Phe85del) rs386833637
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.627+1G>T rs1265044710
NM_000310.3(PPT1):c.798+1G>T rs878853929
NM_000391.4(TPP1):c.1145+1G>A rs113019349
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg) rs1060502179
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.4(TPP1):c.89+5G>C rs746085696
NM_001077350.3(NPRL3):c.767+1G>T rs1567134495
NM_001077350.3(NPRL3):c.925-2A>G rs1431914212
NM_001112741.1(KCNC1):c.691A>G (p.Thr231Ala) rs1565162623
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1673G>C (p.Trp558Ser) rs1555493585
NM_001134407.3(GRIN2A):c.292C>T (p.Leu98Phe)
NM_001242897.2(DEPDC5):c.1081+2T>G
NM_001242897.2(DEPDC5):c.1325-1G>C rs1555882867
NM_001242897.2(DEPDC5):c.1446-1G>T rs1555885023
NM_001242897.2(DEPDC5):c.1870+2387_1870+4243del
NM_001242897.2(DEPDC5):c.280-1G>A rs1556526609
NM_001242897.2(DEPDC5):c.3263+1G>A rs1261611694
NM_001242897.2(DEPDC5):c.3263+1G>C rs1261611694
NM_001242897.2(DEPDC5):c.694+1G>A
NM_001242897.2(DEPDC5):c.871+1G>T rs1556607762
NM_002087.3(GRN):c.933+1G>A rs63750707
NM_004287.3(GOSR2):c.336+1G>A rs141554661
NM_004287.4(GOSR2):c.337-2A>G rs1568177307
NM_004976.4(KCNC1):c.108del (p.Trp36fs)
NM_005097.4(LGI1):c.504-1G>T rs1564851314
NM_152778.3(MFSD8):c.440-2A>T rs751696703
NM_153033.4(KCTD7):c.314+1G>A rs1554397834
NM_153033.4(KCTD7):c.550C>T (p.Arg184Cys) rs387907246

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.