ClinVar Miner

List of variants reported as pathogenic for Familial focal epilepsy with variable foci

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter) rs587777459 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001242896.3(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224 0.00001
NC_000022.10:g.(?_32150888)_(32162674_?)del
NC_000022.10:g.(?_32150888)_(32164869_?)del
NC_000022.10:g.(?_32150888)_(32188823_?)del
NC_000022.10:g.(?_32150908)_(32156708_?)del
NC_000022.10:g.(?_32150908)_(32164869_?)del
NC_000022.10:g.(?_32150908)_(32174174_?)del
NC_000022.10:g.(?_32150908)_(32193709_?)del
NC_000022.10:g.(?_32150908)_(32211218_?)del
NC_000022.10:g.(?_32150908)_(32293659_?)del
NC_000022.10:g.(?_32154512)_(32174174_?)del
NC_000022.10:g.(?_32160941)_(32161066_?)del
NC_000022.10:g.(?_32164780)_(32164869_?)del
NC_000022.10:g.(?_32174065)_(32180881_?)del
NC_000022.10:g.(?_32179873)_(32179991_?)del
NC_000022.10:g.(?_32179873)_(32193709_?)del
NC_000022.10:g.(?_32180780)_(32302503_?)del
NC_000022.10:g.(?_32187999)_(32188823_?)del
NC_000022.10:g.(?_32188019)_(32194642_?)del
NC_000022.10:g.(?_32188404)_(32191244_?)del
NC_000022.10:g.(?_32193566)_(32194662_?)del
NC_000022.10:g.(?_32205577)_(32206647_?)del
NC_000022.10:g.(?_32229881)_(32257439_?)del
NC_000022.10:g.(?_32234651)_(32234851_?)del
NC_000022.10:g.(?_32239061)_(32239818_?)del
NC_000022.10:g.(?_32239061)_(32241243_?)del
NC_000022.10:g.(?_32301950)_(32302483_?)del
NC_000022.10:g.(?_32301960)_(32302483_?)del
NC_000022.11:g.(?_31754902)_(31784895_?)del
NC_000022.11:g.(?_31754902)_(31815449_?)del
NC_000022.11:g.(?_31758526)_(31758653_?)del
NC_000022.11:g.(?_31760636)_(31760722_?)del
NC_000022.11:g.(?_31764955)_(31766688_?)del
NC_000022.11:g.(?_31764955)_(31768883_?)dup
NC_000022.11:g.(?_31792013)_(31792122_?)del
NC_000022.11:g.(?_31804142)_(31810661_?)del
NC_000022.11:g.(?_31809591)_(31815232_?)del
NC_000022.11:g.31804164_31804174dup
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001242896.3(DEPDC5):c.1111G>T (p.Glu371Ter)
NM_001242896.3(DEPDC5):c.1121_1122dup (p.His375fs) rs2087209471
NM_001242896.3(DEPDC5):c.1133del (p.Pro378fs) rs1568955379
NM_001242896.3(DEPDC5):c.1139del (p.Phe380fs) rs2148649693
NM_001242896.3(DEPDC5):c.1155del (p.Ser386fs)
NM_001242896.3(DEPDC5):c.1191T>A (p.Tyr397Ter) rs1320510912
NM_001242896.3(DEPDC5):c.1206G>A (p.Trp402Ter)
NM_001242896.3(DEPDC5):c.1218-1G>A rs2087504321
NM_001242896.3(DEPDC5):c.1218-1G>C rs2087504321
NM_001242896.3(DEPDC5):c.1224C>A (p.Tyr408Ter) rs1602010382
NM_001242896.3(DEPDC5):c.1235del (p.Ser412fs)
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242896.3(DEPDC5):c.1366C>T (p.Gln456Ter) rs2148707379
NM_001242896.3(DEPDC5):c.1385_1386del (p.Ala461_Tyr462insTer) rs1555882921
NM_001242896.3(DEPDC5):c.1397del (p.Val466fs)
NM_001242896.3(DEPDC5):c.1401del (p.Phe467fs) rs2148707724
NM_001242896.3(DEPDC5):c.1431C>A (p.Cys477Ter) rs2148708041
NM_001242896.3(DEPDC5):c.1453C>T (p.Arg485Ter) rs1568991466
NM_001242896.3(DEPDC5):c.1465_1466del (p.His490fs)
NM_001242896.3(DEPDC5):c.1488del (p.Ser497fs)
NM_001242896.3(DEPDC5):c.1493_1500del (p.Cys498fs)
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.158del (p.Leu53fs) rs2148027425
NM_001242896.3(DEPDC5):c.1699C>T (p.Arg567Ter)
NM_001242896.3(DEPDC5):c.1736_1743del (p.Ser579fs) rs2148801562
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter) rs886039263
NM_001242896.3(DEPDC5):c.176dup (p.Glu60fs) rs2148027688
NM_001242896.3(DEPDC5):c.1774_1775del (p.Thr592fs)
NM_001242896.3(DEPDC5):c.178del (p.Glu60fs) rs2148027711
NM_001242896.3(DEPDC5):c.1800del (p.Phe601fs) rs2148802008
NM_001242896.3(DEPDC5):c.1834_1835del (p.Ser612fs)
NM_001242896.3(DEPDC5):c.1845del (p.Arg615fs) rs1060501487
NM_001242896.3(DEPDC5):c.187C>T (p.Gln63Ter) rs372718805
NM_001242896.3(DEPDC5):c.1891C>T (p.Gln631Ter) rs2148821385
NM_001242896.3(DEPDC5):c.193+1G>A rs886039245
NM_001242896.3(DEPDC5):c.1948del (p.Asp650fs)
NM_001242896.3(DEPDC5):c.1964_1965del (p.Ser655fs) rs1372605067
NM_001242896.3(DEPDC5):c.198dup (p.Ile67fs) rs2082694133
NM_001242896.3(DEPDC5):c.2023C>T (p.Gln675Ter)
NM_001242896.3(DEPDC5):c.208_209del (p.Asp70fs) rs2148103087
NM_001242896.3(DEPDC5):c.2094dup (p.Ser699fs) rs2148830445
NM_001242896.3(DEPDC5):c.211C>T (p.Gln71Ter) rs2148103123
NM_001242896.3(DEPDC5):c.212dup (p.Thr72fs) rs2148103177
NM_001242896.3(DEPDC5):c.218_219del (p.Val73fs) rs2148103243
NM_001242896.3(DEPDC5):c.2196dup (p.Val733fs) rs2148952560
NM_001242896.3(DEPDC5):c.2275_2281del (p.Tyr759fs) rs2148953095
NM_001242896.3(DEPDC5):c.2304_2305dup (p.Asp769fs) rs2148953333
NM_001242896.3(DEPDC5):c.231_232dup (p.Arg78fs)
NM_001242896.3(DEPDC5):c.2325T>A (p.Tyr775Ter) rs374158137
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs) rs2082695884
NM_001242896.3(DEPDC5):c.232dup (p.Arg78fs)
NM_001242896.3(DEPDC5):c.239_245dup (p.Tyr82Ter)
NM_001242896.3(DEPDC5):c.2433C>A (p.Tyr811Ter)
NM_001242896.3(DEPDC5):c.247C>T (p.Gln83Ter) rs2148103774
NM_001242896.3(DEPDC5):c.2489_2511del (p.Leu830fs) rs2148968890
NM_001242896.3(DEPDC5):c.2489del (p.Leu830fs) rs2148968909
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.2548dup (p.Asp850fs) rs2149004143
NM_001242896.3(DEPDC5):c.2591_2592insCA (p.Leu865fs)
NM_001242896.3(DEPDC5):c.2620C>T (p.Arg874Ter) rs578185749
NM_001242896.3(DEPDC5):c.2690C>A (p.Ser897Ter)
NM_001242896.3(DEPDC5):c.2702_2705del (p.Phe901fs)
NM_001242896.3(DEPDC5):c.2768_2775del (p.Gln923fs) rs2149009589
NM_001242896.3(DEPDC5):c.279+1G>A rs886039246
NM_001242896.3(DEPDC5):c.280-1G>A rs1556526609
NM_001242896.3(DEPDC5):c.280-2A>G rs2148127827
NM_001242896.3(DEPDC5):c.2826G>A (p.Trp942Ter) rs2091643419
NM_001242896.3(DEPDC5):c.2856T>A (p.Cys952Ter) rs115299174
NM_001242896.3(DEPDC5):c.2857_2858del (p.Val953fs) rs2091645809
NM_001242896.3(DEPDC5):c.2887dup (p.Glu963fs) rs2149024046
NM_001242896.3(DEPDC5):c.2894_2919del (p.His965fs) rs1555900914
NM_001242896.3(DEPDC5):c.2898C>A (p.Cys966Ter) rs748986619
NM_001242896.3(DEPDC5):c.2907T>G (p.Tyr969Ter)
NM_001242896.3(DEPDC5):c.2940G>A (p.Trp980Ter)
NM_001242896.3(DEPDC5):c.2958_2959insTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATGGTTTT (p.Val987delinsPhePhePhePhePheXaaXaaXaaXaaPhePhePhePhePhePhePhePhePheTer) rs2149024566
NM_001242896.3(DEPDC5):c.2989del (p.Arg997fs) rs2149024925
NM_001242896.3(DEPDC5):c.2994del (p.Arg998fs)
NM_001242896.3(DEPDC5):c.3005C>A (p.Ser1002Ter) rs2149025148
NM_001242896.3(DEPDC5):c.3021+2T>G
NM_001242896.3(DEPDC5):c.305dup (p.Leu102fs) rs2148128199
NM_001242896.3(DEPDC5):c.3095del (p.Pro1032fs) rs2091769406
NM_001242896.3(DEPDC5):c.3159C>A (p.Cys1053Ter) rs1162414657
NM_001242896.3(DEPDC5):c.3176_3177del (p.Ala1059fs)
NM_001242896.3(DEPDC5):c.319C>T (p.Gln107Ter) rs2082841677
NM_001242896.3(DEPDC5):c.3205C>T (p.Gln1069Ter) rs2149117486
NM_001242896.3(DEPDC5):c.324T>G (p.Tyr108Ter) rs2148128349
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.3(DEPDC5):c.3260dup (p.Asp1089fs)
NM_001242896.3(DEPDC5):c.3278_3279del (p.Phe1093fs)
NM_001242896.3(DEPDC5):c.327del (p.Ile109fs) rs2148128390
NM_001242896.3(DEPDC5):c.338del (p.Asp113fs)
NM_001242896.3(DEPDC5):c.3436C>T (p.Gln1146Ter) rs2092816377
NM_001242896.3(DEPDC5):c.3449_3450del (p.Glu1150fs) rs2149231471
NM_001242896.3(DEPDC5):c.344G>A (p.Trp115Ter)
NM_001242896.3(DEPDC5):c.3451C>T (p.Gln1151Ter)
NM_001242896.3(DEPDC5):c.345G>A (p.Trp115Ter)
NM_001242896.3(DEPDC5):c.3547del (p.Ala1183fs) rs1569166925
NM_001242896.3(DEPDC5):c.3578del (p.Leu1193fs) rs1309891064
NM_001242896.3(DEPDC5):c.357_358del (p.Ser120fs)
NM_001242896.3(DEPDC5):c.3638G>A (p.Trp1213Ter) rs2149256695
NM_001242896.3(DEPDC5):c.3655dup (p.Glu1219fs) rs2092933941
NM_001242896.3(DEPDC5):c.3717dup (p.Ile1240fs) rs2149267082
NM_001242896.3(DEPDC5):c.3723dup (p.His1242fs) rs2149267113
NM_001242896.3(DEPDC5):c.3774C>G (p.Tyr1258Ter)
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.3(DEPDC5):c.3868C>T (p.Gln1290Ter) rs1569186093
NM_001242896.3(DEPDC5):c.3926del (p.Pro1309fs)
NM_001242896.3(DEPDC5):c.3945G>A (p.Trp1315Ter)
NM_001242896.3(DEPDC5):c.3987_3988insA (p.Phe1330fs)
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001242896.3(DEPDC5):c.4031T>G (p.Leu1344Ter)
NM_001242896.3(DEPDC5):c.4085del (p.Asn1362fs)
NM_001242896.3(DEPDC5):c.4102G>T (p.Glu1368Ter)
NM_001242896.3(DEPDC5):c.4122C>A (p.Tyr1374Ter) rs939021094
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242896.3(DEPDC5):c.4207C>T (p.Gln1403Ter) rs1602903591
NM_001242896.3(DEPDC5):c.4242_4243dup (p.Leu1415fs) rs2149397188
NM_001242896.3(DEPDC5):c.4287C>A (p.Tyr1429Ter)
NM_001242896.3(DEPDC5):c.4290del (p.Tyr1431fs) rs2149397518
NM_001242896.3(DEPDC5):c.4291_4294del (p.Tyr1431fs) rs2093575654
NM_001242896.3(DEPDC5):c.4303dup (p.Leu1435fs)
NM_001242896.3(DEPDC5):c.434G>A (p.Trp145Ter) rs1060501488
NM_001242896.3(DEPDC5):c.4357dup (p.Ser1453fs) rs2149397818
NM_001242896.3(DEPDC5):c.4397G>A (p.Trp1466Ter) rs886039273
NM_001242896.3(DEPDC5):c.4398G>A (p.Trp1466Ter) rs2149419668
NM_001242896.3(DEPDC5):c.4402C>T (p.Arg1468Ter) rs1016477183
NM_001242896.3(DEPDC5):c.4420G>T (p.Glu1474Ter)
NM_001242896.3(DEPDC5):c.4446dup (p.Val1483fs) rs1603014297
NM_001242896.3(DEPDC5):c.4501C>T (p.Gln1501Ter) rs1603014708
NM_001242896.3(DEPDC5):c.4501_4502dup (p.Gln1501fs) rs1569254004
NM_001242896.3(DEPDC5):c.4508_4511dup (p.Val1505fs)
NM_001242896.3(DEPDC5):c.4519+1G>A rs1555942720
NM_001242896.3(DEPDC5):c.4530del (p.Leu1511fs) rs2093755806
NM_001242896.3(DEPDC5):c.4544_4545del (p.Tyr1515fs)
NM_001242896.3(DEPDC5):c.4567C>T (p.Gln1523Ter) rs797044546
NM_001242896.3(DEPDC5):c.4570C>T (p.Gln1524Ter)
NM_001242896.3(DEPDC5):c.4630del (p.Val1544fs) rs1569255443
NM_001242896.3(DEPDC5):c.4638del (p.Gly1545_Tyr1546insTer)
NM_001242896.3(DEPDC5):c.4650C>G (p.Tyr1550Ter) rs2093758918
NM_001242896.3(DEPDC5):c.4671_4672del (p.Trp1558fs) rs2149449522
NM_001242896.3(DEPDC5):c.4689_4690del (p.Gly1564_Asp1565insTer) rs2149449670
NM_001242896.3(DEPDC5):c.492dup (p.Arg165fs)
NM_001242896.3(DEPDC5):c.522_525del (p.Ile175fs)
NM_001242896.3(DEPDC5):c.526C>T (p.Gln176Ter) rs886039251
NM_001242896.3(DEPDC5):c.562+1G>A rs1057524233
NM_001242896.3(DEPDC5):c.624+1G>A rs886039252
NM_001242896.3(DEPDC5):c.674dup (p.Tyr226fs)
NM_001242896.3(DEPDC5):c.677dup (p.Tyr226Ter) rs2085727988
NM_001242896.3(DEPDC5):c.678T>G (p.Tyr226Ter)
NM_001242896.3(DEPDC5):c.697G>T (p.Glu233Ter)
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001242896.3(DEPDC5):c.722C>G (p.Ser241Ter)
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_001242896.3(DEPDC5):c.765C>G (p.Tyr255Ter)
NM_001242896.3(DEPDC5):c.784G>T (p.Glu262Ter)
NM_001242896.3(DEPDC5):c.788_789del (p.Arg263fs) rs1569523728
NM_001242896.3(DEPDC5):c.793_797del (p.Glu265fs) rs1601925213
NM_001242896.3(DEPDC5):c.800G>A (p.Trp267Ter) rs2148574616
NM_001242896.3(DEPDC5):c.832_833del (p.Phe278fs) rs2086398901
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242896.3(DEPDC5):c.862G>T (p.Glu288Ter) rs770620001
NM_001242896.3(DEPDC5):c.862del (p.Glu288fs) rs2148575334
NM_001242896.3(DEPDC5):c.865C>T (p.Gln289Ter) rs759952667
NM_001242896.3(DEPDC5):c.883C>T (p.Gln295Ter) rs2148587476
NM_001242896.3(DEPDC5):c.907del (p.Gln303fs)
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_001242896.3(DEPDC5):c.991C>T (p.Gln331Ter)

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