ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by GeneReviews

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 179
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HGVS dbSNP
NC_000010.11:g.(93704377_?)_(?_93785620)del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.4279A>G rs797044543
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000100.3(CSTB):c.-210_-199(30_125)
NM_000100.3(CSTB):c.10G>C (p.Gly4Arg) rs74315443
NM_000100.3(CSTB):c.125C>A (p.Ser42Ter) rs386833439
NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) rs545986367
NM_000100.3(CSTB):c.149G>A (p.Gly50Glu) rs312262708
NM_000100.3(CSTB):c.168+1_168+18del rs312262707
NM_000100.3(CSTB):c.168+2_168+21delinsAA rs864309482
NM_000100.3(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.3(CSTB):c.169-2A>G rs386833441
NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) rs74315442
NM_000100.3(CSTB):c.212A>C (p.Gln71Pro) rs121909346
NM_000100.3(CSTB):c.218_219delTC (p.Leu73Profs) rs796943858
NM_000100.3(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000742.3(CHRNA2):c.836T>A (p.Ile279Asn) rs104894063
NM_000744.6(CHRNA4):c.1007G>A (p.Arg336His) rs281865068
NM_000744.6(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.6(CHRNA4):c.870_872dup (p.Leu291_Ile292insLeu) rs281865067
NM_000744.6(CHRNA4):c.878C>T (p.Thr293Ile) rs281865066
NM_000748.2(CHRNB2):c.1010T>G (p.Val337Gly) rs281865072
NM_000748.2(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.2(CHRNB2):c.859G>C (p.Val287Leu) rs74315291
NM_000748.2(CHRNB2):c.859G>T (p.Val287Leu) rs74315291
NM_000748.2(CHRNB2):c.901C>G (p.Leu301Val) rs281865069
NM_000748.2(CHRNB2):c.923T>C (p.Val308Ala) rs281865070
NM_000748.2(CHRNB2):c.936C>G (p.Ile312Met) rs281865071
NM_000756.3(CRH):c.-365G>C rs72556399
NM_000756.3(CRH):c.-669C>A rs12721510
NM_000756.3(CRH):c.89C>G (p.Pro30Arg) rs748404250
NM_000833.4(GRIN2A):c.1007+1G>A rs397518465
NM_000833.4(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_000833.4(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_000833.4(GRIN2A):c.2146G>A (p.Ala716Thr) rs762659685
NM_000833.4(GRIN2A):c.2927A>G (p.Asn976Ser) rs886039239
NM_001042432.1(CLN3):c.461-280_677+382del rs1555468634
NM_001242896.1(DEPDC5):c.1122delA (p.Leu374PhefsTer30) rs879255234
NM_001242896.1(DEPDC5):c.1218-18_1218-15delTGTT rs150103661
NM_001242896.1(DEPDC5):c.1746_1752delCATGCTG (p.Leu584PhefsTer12) rs886039262
NM_001242896.1(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812
NM_001242896.1(DEPDC5):c.193+1G>A rs886039245
NM_001242896.1(DEPDC5):c.2355-2A>G (p.Arg785_Gly839del) rs797044545
NM_001242896.1(DEPDC5):c.2390delA (p.Gln797ArgfsTer18) rs886039264
NM_001242896.1(DEPDC5):c.279+1G>A rs886039246
NM_001242896.1(DEPDC5):c.3265-3C>T rs371377906
NM_001242896.1(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628
NM_001242896.1(DEPDC5):c.3444delA (p.Ile1148MetfsTer24) rs886039266
NM_001242896.1(DEPDC5):c.3696+5G>A rs886039267
NM_001242896.1(DEPDC5):c.4033+5A>G rs886039270
NM_001242896.1(DEPDC5):c.4187delC (p.Ala1396GlufsTer21) rs886039271
NM_001242896.1(DEPDC5):c.4260delG (p.Glu1421ArgfsTer153) rs886039272
NM_001242896.1(DEPDC5):c.454_455delAT (p.Met152ValfsTer6) rs886039248
NM_001242896.1(DEPDC5):c.484-1G>A rs886039249
NM_001242896.1(DEPDC5):c.489_491delGTT (p.Phe164del) rs587776974
NM_001242896.1(DEPDC5):c.492_496delTCGTT (p.Arg165TyrfsTer14) rs886039250
NM_001242896.1(DEPDC5):c.59-1G>C rs886039243
NM_001242896.1(DEPDC5):c.624+1G>A rs886039252
NM_001242896.1(DEPDC5):c.783_786delTGAG (p.Asn261LysfsTer11) rs886039254
NM_001242896.1(DEPDC5):c.985delA (p.Thr329LeufsTer7) rs886039257
NM_001242896.2(DEPDC5):c.1093_1099dup (p.Val367Glyfs) rs886039258
NM_001242896.2(DEPDC5):c.1114C>T (p.Gln372Ter) rs886039259
NM_001242896.2(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242896.2(DEPDC5):c.1265G>A (p.Arg422Gln) rs886039277
NM_001242896.2(DEPDC5):c.132dup (p.Asn45Glnfs) rs886039244
NM_001242896.2(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316
NM_001242896.2(DEPDC5):c.1393C>T (p.Gln465Ter) rs886039260
NM_001242896.2(DEPDC5):c.1454G>A (p.Arg485Gln) rs886039278
NM_001242896.2(DEPDC5):c.1459C>T (p.Arg487Ter) rs587777459
NM_001242896.2(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.2(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113
NM_001242896.2(DEPDC5):c.1625A>C (p.Gln542Pro) rs886039279
NM_001242896.2(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973
NM_001242896.2(DEPDC5):c.1759C>T (p.Arg587Ter) rs886039263
NM_001242896.2(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563
NM_001242896.2(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038
NM_001242896.2(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614
NM_001242896.2(DEPDC5):c.2620C>T (p.Arg874Ter) rs578185749
NM_001242896.2(DEPDC5):c.268G>A (p.Val90Ile) rs768456731
NM_001242896.2(DEPDC5):c.3046C>T (p.Gln1016Ter) rs886039265
NM_001242896.2(DEPDC5):c.3092C>A (p.Pro1031His) rs376744360
NM_001242896.2(DEPDC5):c.3217A>C (p.Ser1073Arg) rs754608531
NM_001242896.2(DEPDC5):c.3241A>C (p.Thr1081Pro) rs142540948
NM_001242896.2(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.2(DEPDC5):c.3461C>T (p.Ser1154Phe) rs578244490
NM_001242896.2(DEPDC5):c.3484A>G (p.Ser1162Gly) rs886039280
NM_001242896.2(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.2(DEPDC5):c.3803G>A (p.Arg1268Gln) rs886039281
NM_001242896.2(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001242896.2(DEPDC5):c.4107G>A (p.Trp1369Ter) rs587776975
NM_001242896.2(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242896.2(DEPDC5):c.435G>A (p.Trp145Ter) rs886039247
NM_001242896.2(DEPDC5):c.4397G>A (p.Trp1466Ter) rs886039273
NM_001242896.2(DEPDC5):c.4567C>T (p.Gln1523Ter) rs797044546
NM_001242896.2(DEPDC5):c.4606C>T (p.Gln1536Ter) rs886039274
NM_001242896.2(DEPDC5):c.526C>T (p.Gln176Ter) rs886039251
NM_001242896.2(DEPDC5):c.56G>C (p.Ser19Thr) rs886039275
NM_001242896.2(DEPDC5):c.640C>G (p.His214Asp) rs886039276
NM_001242896.2(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001242896.2(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_001242896.2(DEPDC5):c.730C>T (p.Gln244Ter) rs886039253
NM_001242896.2(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242896.2(DEPDC5):c.842A>T (p.Tyr281Phe) rs200797928
NM_001242896.2(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242896.2(DEPDC5):c.918C>G (p.Tyr306Ter) rs886039256
NM_001242896.2(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_005045.3(RELN):c.2015C>T (p.Pro672Leu) rs201044262
NM_005045.3(RELN):c.2168A>G (p.Tyr723Cys) rs768119894
NM_005045.3(RELN):c.2288A>G (p.Asp763Gly) rs794727998
NM_005045.3(RELN):c.2392C>A (p.His798Asn) rs794727996
NM_005045.3(RELN):c.2531C>T (p.Pro844Leu) rs797045000
NM_005045.3(RELN):c.8347G>T (p.Gly2783Cys) rs794727997
NM_005045.3(RELN):c.9526G>A (p.Glu3176Lys) rs794727999
NM_005097.3(LGI1):c.124T>C (p.Cys42Arg) rs797044996
NM_005097.3(LGI1):c.124T>G (p.Cys42Gly) rs797044996
NM_005097.3(LGI1):c.136T>C (p.Cys46Arg) rs104894166
NM_005097.3(LGI1):c.1418C>T (p.Ser473Leu) rs797044999
NM_005097.3(LGI1):c.1420C>T (p.Arg474Ter) rs797044998
NM_005097.3(LGI1):c.758delC (p.Ala253Valfs) rs797044997
NM_005506.3(SCARB2):c.1015_1016insT (p.His341Thrfs) rs886041077
NM_005506.3(SCARB2):c.1087C>A (p.His363Asn) rs758857853
NM_005506.3(SCARB2):c.1114-2A>C rs727502781
NM_005506.3(SCARB2):c.111delC (p.Ile37Metfs) rs886041072
NM_005506.3(SCARB2):c.1239+1G>T rs727502772
NM_005506.3(SCARB2):c.1258delG (p.Glu420Argfs) rs727502782
NM_005506.3(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078
NM_005506.3(SCARB2):c.1385_1390delGATCCAinsATGCATGCACC (p.Gly462Aspfs) rs886041079
NM_005506.3(SCARB2):c.1412A>G (p.Glu471Gly) rs755903502
NM_005506.3(SCARB2):c.296delA (p.Asn99Ilefs) rs886041073
NM_005506.3(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005506.3(SCARB2):c.424-2A>C rs886041074
NM_005506.3(SCARB2):c.434_435dupAG (p.Trp146Serfs) rs727502773
NM_005506.3(SCARB2):c.533G>A (p.Trp178Ter) rs121909119
NM_005506.3(SCARB2):c.666_670del (p.Tyr222Terfs) rs886041075
NM_005506.3(SCARB2):c.704+1G>A rs886041076
NM_005506.3(SCARB2):c.704+1G>C rs886041076
NM_005506.3(SCARB2):c.704+5G>A rs774271963
NM_005506.3(SCARB2):c.862C>T (p.Gln288Ter) rs121909118
NM_005506.4(SCARB2):c.1187+2dup rs727502783
NM_005670.3(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_005670.3(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.3(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_006493.2(CLN5):c.1175_1176delAT (p.Tyr392Terfs) rs386833969
NM_006493.2(CLN5):c.225G>A (p.Trp75Ter) rs104894385
NM_017882.2(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_020822.2(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.2(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.2(KCNT1):c.2688G>A (p.Met896Ile) rs797044544
NM_020822.2(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405
NM_152778.2(MFSD8):c.754+2T>A rs587778809
NM_152778.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_153026.2(PRICKLE1):c.1414T>C (p.Tyr472His) rs281865564
NM_153026.2(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140
NM_153026.2(PRICKLE1):c.431G>A (p.Arg144His) rs281865563
NM_172107.3(KCNQ2):c.1776C>G (p.Ile592Met) rs201868078
NM_172107.3(KCNQ2):c.913_915del (p.Phe305del) rs118192212
NM_198586.2(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576
NM_198586.2(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934
NM_198586.2(NHLRC1):c.468_469delAG (p.Gly158Argfs) rs587776542
NM_198586.2(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_198586.2(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575
m.15923A>G rs1556424691
m.15967G>A rs199474701
m.4284G>A rs121434468
m.611G>A rs118203886
m.8344A>G rs118192098
m.8356T>C rs118192099
m.8361G>A rs118192104
m.8363G>A rs118192100

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