ClinVar Miner

List of variants in gene DEPDC5 reported as likely pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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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.(?_32179873)_(32266750_?)dup
NC_000022.10:g.(?_32210968)_(32211208_?)dup
NC_000022.10:g.(?_32217594)_(32219450_?)del
NC_000022.10:g.(?_32226416)_(32233136_?)del
NC_000022.10:g.(?_32253411)_(32275758_?)dup
NC_000022.10:g.32217598_(32218777_32229900)del
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.1225del (p.Thr409fs)
NM_001242896.3(DEPDC5):c.1277_1280del (p.Ala426fs) rs1568963062
NM_001242896.3(DEPDC5):c.1287+1G>A
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
NM_001242896.3(DEPDC5):c.1395dup (p.Val466fs) rs2088167973
NM_001242896.3(DEPDC5):c.1445+1G>A
NM_001242896.3(DEPDC5):c.1446-1G>T rs1555885023
NM_001242896.3(DEPDC5):c.147-1G>C
NM_001242896.3(DEPDC5):c.1673T>C (p.Leu558Pro) rs2089433234
NM_001242896.3(DEPDC5):c.1696del (p.Gln566fs) rs2148801285
NM_001242896.3(DEPDC5):c.1725dup (p.His576fs) rs2148801432
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
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.2354+2T>A rs2148953712
NM_001242896.3(DEPDC5):c.2515+2T>G
NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val) rs1602349641
NM_001242896.3(DEPDC5):c.2634-2A>G rs2149008450
NM_001242896.3(DEPDC5):c.2694_2703delinsGGACA (p.Asp898fs) rs1569083500
NM_001242896.3(DEPDC5):c.2697dup (p.Glu900fs)
NM_001242896.3(DEPDC5):c.280-4_282del
NM_001242896.3(DEPDC5):c.2800A>G (p.Ser934Gly)
NM_001242896.3(DEPDC5):c.3021+1G>A rs2091657024
NM_001242896.3(DEPDC5):c.3264G>A (p.Lys1088=)
NM_001242896.3(DEPDC5):c.3460TCC[1] (p.Ser1155del) rs2092817019
NM_001242896.3(DEPDC5):c.3485+1G>A
NM_001242896.3(DEPDC5):c.3485+1G>T rs2149231722
NM_001242896.3(DEPDC5):c.3486-1G>C
NM_001242896.3(DEPDC5):c.3486-1G>T
NM_001242896.3(DEPDC5):c.3486-3_3486-1delinsA
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
NM_001242896.3(DEPDC5):c.364-1G>A rs2083056830
NM_001242896.3(DEPDC5):c.3696+1G>A
NM_001242896.3(DEPDC5):c.4015C>T (p.Gln1339Ter) rs1309166815
NM_001242896.3(DEPDC5):c.4084_4087dup (p.Arg1363fs)
NM_001242896.3(DEPDC5):c.413+1G>A
NM_001242896.3(DEPDC5):c.4152del (p.Phe1384fs) rs1339126434
NM_001242896.3(DEPDC5):c.4203+1G>C rs945102665
NM_001242896.3(DEPDC5):c.4204-1G>A
NM_001242896.3(DEPDC5):c.422_423insCTGG (p.Gly142fs) rs1601755632
NM_001242896.3(DEPDC5):c.436dup (p.Val146fs) rs2148328679
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
NM_001242896.3(DEPDC5):c.484-2A>T
NM_001242896.3(DEPDC5):c.58+1G>A
NM_001242896.3(DEPDC5):c.58+2T>C
NM_001242896.3(DEPDC5):c.59-2A>G
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.767+2T>C
NM_001242896.3(DEPDC5):c.768-2A>G rs2086393945
NM_001242896.3(DEPDC5):c.828del (p.Lys276fs)
NM_001242896.3(DEPDC5):c.871+1G>T rs1556607762
NM_001242896.3(DEPDC5):c.88_89insA (p.Phe30fs)
NM_001242896.3(DEPDC5):c.947-1G>A rs2148633437

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