ClinVar Miner

List of variants reported as likely pathogenic for Familial focal epilepsy with variable foci by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys) rs749809456 0.00002
NM_001242896.3(DEPDC5):c.695-1G>T rs1265464096 0.00001
NC_000022.10:g.(?_32156622)_(32162674_?)dup
NC_000022.10:g.(?_32160941)_(32206647_?)dup
NC_000022.10:g.(?_32179873)_(32266750_?)dup
NC_000022.10:g.(?_32210968)_(32211208_?)dup
NC_000022.10:g.(?_32217594)_(32219450_?)del
NC_000022.10:g.(?_32217598)_(32219454_?)del
NC_000022.10:g.(?_32226416)_(32233136_?)del
NC_000022.10:g.(?_32253411)_(32275758_?)dup
NC_000022.11:g.(?_31778079)_(31792837_?)del
NC_000022.11:g.(?_31901722)_(31901822_?)del
NM_001242896.3(DEPDC5):c.1081+2T>G rs1601970824
NM_001242896.3(DEPDC5):c.1143+1G>A rs2148649751
NM_001242896.3(DEPDC5):c.1287+1G>A rs2518976938
NM_001242896.3(DEPDC5):c.1324+1G>A rs2088011240
NM_001242896.3(DEPDC5):c.1324+1G>T rs2088011240
NM_001242896.3(DEPDC5):c.1325-1G>A rs1555882867
NM_001242896.3(DEPDC5):c.1325-1G>C rs1555882867
NM_001242896.3(DEPDC5):c.1325-2A>G rs2148707066
NM_001242896.3(DEPDC5):c.1325-2_1360del rs2519098517
NM_001242896.3(DEPDC5):c.1446-1G>T rs1555885023
NM_001242896.3(DEPDC5):c.147-1G>C rs2517796451
NM_001242896.3(DEPDC5):c.1673T>C (p.Leu558Pro) rs2089433234
NM_001242896.3(DEPDC5):c.1871-15_1901del
NM_001242896.3(DEPDC5):c.194-1G>C rs2148102743
NM_001242896.3(DEPDC5):c.1981_2104+678del
NM_001242896.3(DEPDC5):c.2170+1G>A rs2148924638
NM_001242896.3(DEPDC5):c.2233_2355-686del rs2148952714
NM_001242896.3(DEPDC5):c.2515+2T>G rs2519949224
NM_001242896.3(DEPDC5):c.2634-2A>G rs2149008450
NM_001242896.3(DEPDC5):c.280-4_282del rs2517945218
NM_001242896.3(DEPDC5):c.3021_3021+1delinsCT
NM_001242896.3(DEPDC5):c.3485+1G>A rs2149231722
NM_001242896.3(DEPDC5):c.3485+1G>T rs2149231722
NM_001242896.3(DEPDC5):c.3486-1G>C rs2522341176
NM_001242896.3(DEPDC5):c.3486-1G>T rs2522341176
NM_001242896.3(DEPDC5):c.3563+1G>A rs1261611694
NM_001242896.3(DEPDC5):c.3563+1G>C rs1261611694
NM_001242896.3(DEPDC5):c.363+1G>A rs2082845191
NM_001242896.3(DEPDC5):c.363+1G>C rs2082845191
NM_001242896.3(DEPDC5):c.363+2T>G
NM_001242896.3(DEPDC5):c.364-1G>A rs2083056830
NM_001242896.3(DEPDC5):c.3696+1G>A rs2522420920
NM_001242896.3(DEPDC5):c.414-2A>G
NM_001242896.3(DEPDC5):c.4203+1G>C rs945102665
NM_001242896.3(DEPDC5):c.4204-1G>A rs2523314003
NM_001242896.3(DEPDC5):c.4436+1G>A rs2149419886
NM_001242896.3(DEPDC5):c.483+1G>A rs2084070588
NM_001242896.3(DEPDC5):c.483+2T>C rs2518229660
NM_001242896.3(DEPDC5):c.484-2A>T rs2518362817
NM_001242896.3(DEPDC5):c.58+1G>A rs2517655700
NM_001242896.3(DEPDC5):c.58+2T>C rs2517655719
NM_001242896.3(DEPDC5):c.59-2A>G rs2517738284
NM_001242896.3(DEPDC5):c.625-2A>G rs1400868304
NM_001242896.3(DEPDC5):c.694+1G>A rs1601875057
NM_001242896.3(DEPDC5):c.767+1G>A rs2148514247
NM_001242896.3(DEPDC5):c.768-2A>G rs2086393945
NM_001242896.3(DEPDC5):c.871+1G>T rs1556607762
NM_001242896.3(DEPDC5):c.947-1G>A rs2148633437

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.