ClinVar Miner

List of variants reported as not provided for adolescent-onset epilepsy syndrome

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_000756.2(CRH):c.-669C>A rs12721510 0.04273
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476 0.01101
NM_001242896.3(DEPDC5):c.3265-3C>T rs371377906 0.00108
NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His) rs376744360 0.00041
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000744.7(CHRNA4):c.296G>A (p.Arg99His) rs143103435 0.00021
NM_000756.3(CRH):c.-365G>C rs72556399 0.00021
NM_001242896.3(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316 0.00020
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113 0.00019
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro) rs142540948 0.00017
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614 0.00014
NM_000756.4(CRH):c.89C>G (p.Pro30Arg) rs748404250 0.00013
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu) rs369926953 0.00012
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) rs141735618 0.00010
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe) rs200797928 0.00006
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu) rs1003586835 0.00006
NM_001242896.3(DEPDC5):c.3217A>C (p.Ser1073Arg) rs754608531 0.00005
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563 0.00004
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_000742.4(CHRNA2):c.883G>A (p.Glu295Lys) rs139727115 0.00003
NM_000744.7(CHRNA4):c.1425C>T (p.Gly475=) rs121912279 0.00003
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe) rs578244490 0.00003
NM_001242896.3(DEPDC5):c.4033+5A>G rs886039270 0.00003
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) rs74315442 0.00002
NM_001077350.3(NPRL3):c.318+3A>T rs746765533 0.00002
NM_001077350.3(NPRL3):c.905C>T (p.Ala302Val) rs777790535 0.00002
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys) rs768119894 0.00002
NM_000100.4(CSTB):c.10G>C (p.Gly4Arg) rs74315443 0.00001
NM_000100.4(CSTB):c.125C>A (p.Ser42Ter) rs386833439 0.00001
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
NM_000100.4(CSTB):c.149G>A (p.Gly50Glu) rs312262708 0.00001
NM_000742.4(CHRNA2):c.362G>T (p.Arg121Leu) rs752422797 0.00001
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His) rs281865068 0.00001
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser) rs752355994 0.00001
NM_000748.3(CHRNB2):c.515A>G (p.Lys172Arg) rs1330894666 0.00001
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser) rs886039239 0.00001
NM_001242896.3(DEPDC5):c.1261C>G (p.Pro421Ala) rs764297665 0.00001
NM_001242896.3(DEPDC5):c.1265G>A (p.Arg422Gln) rs886039277 0.00001
NM_001242896.3(DEPDC5):c.1454G>A (p.Arg485Gln) rs886039278 0.00001
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.268G>A (p.Val90Ile) rs768456731 0.00001
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu) rs896069835 0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078 0.00001
NM_005506.4(SCARB2):c.704+1G>A rs886041076 0.00001
NM_005506.4(SCARB2):c.704+5G>A rs774271963 0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_153026.3(PRICKLE1):c.1012A>G (p.Lys338Glu) rs1328763941 0.00001
NM_153033.5(KCTD7):c.121G>C (p.Ala41Pro) rs766856368 0.00001
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575 0.00001
NM_000100.4(CSTB):c.168+2_168+19del rs312262707
NM_000100.4(CSTB):c.168+2_168+21delinsAA rs864309482
NM_000100.4(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.4(CSTB):c.169-2A>G rs386833441
NM_000100.4(CSTB):c.212A>C (p.Gln71Pro) rs121909346
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000682.7(ADRA2B):c.274G>A (p.Asp92Asn) rs1397681630
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn) rs104894063
NM_000744.7(CHRNA4):c.348G>C (p.Glu116Asp) rs866334493
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup) rs281865067
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1329-1G>T
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1948G>T (p.Ala650Ser) rs2042447713
NM_001134407.3(GRIN2A):c.1983A>G (p.Gln661=) rs1327079068
NM_001134407.3(GRIN2A):c.1993C>T (p.Leu665Phe)
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2788C>G (p.Leu930Val)
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[9] (p.Gly19_Gly20dup) rs760628050
NM_001242896.3(DEPDC5):c.1093_1099dup (p.Val367fs) rs886039258
NM_001242896.3(DEPDC5):c.1114C>T (p.Gln372Ter) rs886039259
NM_001242896.3(DEPDC5):c.1122del (p.Leu374fs) rs879255234
NM_001242896.3(DEPDC5):c.1218-13_1218-10del rs150103661
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242896.3(DEPDC5):c.132dup (p.Asn45fs) rs886039244
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.1625A>C (p.Gln542Pro) rs886039279
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter) rs886039263
NM_001242896.3(DEPDC5):c.193+1G>A rs886039245
NM_001242896.3(DEPDC5):c.2355-2A>G rs797044545
NM_001242896.3(DEPDC5):c.2390del (p.Gln797fs) rs886039264
NM_001242896.3(DEPDC5):c.2620C>T (p.Arg874Ter) rs578185749
NM_001242896.3(DEPDC5):c.279+1G>A rs886039246
NM_001242896.3(DEPDC5):c.3046C>T (p.Gln1016Ter) rs886039265
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.3(DEPDC5):c.3444del (p.Ile1148fs) rs886039266
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly) rs886039280
NM_001242896.3(DEPDC5):c.3696+5G>A rs886039267
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.3(DEPDC5):c.3803G>A (p.Arg1268Gln) rs886039281
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001242896.3(DEPDC5):c.4107G>A (p.Trp1369Ter) rs587776975
NM_001242896.3(DEPDC5):c.4187del (p.Ala1396fs) rs886039271
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242896.3(DEPDC5):c.435G>A (p.Trp145Ter) rs886039247
NM_001242896.3(DEPDC5):c.4397G>A (p.Trp1466Ter) rs886039273
NM_001242896.3(DEPDC5):c.4567C>T (p.Gln1523Ter) rs797044546
NM_001242896.3(DEPDC5):c.4606C>T (p.Gln1536Ter) rs886039274
NM_001242896.3(DEPDC5):c.484-1G>A rs886039249
NM_001242896.3(DEPDC5):c.489_491del (p.Phe164del) rs587776974
NM_001242896.3(DEPDC5):c.492_496del (p.Arg165fs) rs886039250
NM_001242896.3(DEPDC5):c.526C>T (p.Gln176Ter) rs886039251
NM_001242896.3(DEPDC5):c.56G>C (p.Ser19Thr) rs886039275
NM_001242896.3(DEPDC5):c.59-1G>C rs886039243
NM_001242896.3(DEPDC5):c.624+1G>A rs886039252
NM_001242896.3(DEPDC5):c.640C>G (p.His214Asp) rs886039276
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_001242896.3(DEPDC5):c.730C>T (p.Gln244Ter) rs886039253
NM_001242896.3(DEPDC5):c.783_786del (p.Asn261fs) rs886039254
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242896.3(DEPDC5):c.918C>G (p.Tyr306Ter) rs886039256
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_001242896.3(DEPDC5):c.985del (p.Thr329fs) rs886039257
NM_005045.4(RELN):c.1760A>G (p.Asn587Ser) rs1562940963
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly) rs794727998
NM_005045.4(RELN):c.2392C>A (p.His798Asn) rs794727996
NM_005045.4(RELN):c.2531C>T (p.Pro844Leu) rs797045000
NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys) rs794727997
NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys) rs794727999
NM_005097.4(LGI1):c.124T>C (p.Cys42Arg) rs797044996
NM_005097.4(LGI1):c.124T>G (p.Cys42Gly) rs797044996
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) rs104894166
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu) rs797044999
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter) rs797044998
NM_005097.4(LGI1):c.758del (p.Ala253fs) rs797044997
NM_005506.4(SCARB2):c.1016dup (p.His341fs) rs886041077
NM_005506.4(SCARB2):c.1087C>A (p.His363Asn) rs758857853
NM_005506.4(SCARB2):c.111del (p.Ile37fs) rs886041072
NM_005506.4(SCARB2):c.1239+1G>T rs727502772
NM_005506.4(SCARB2):c.1258del (p.Glu420fs) rs727502782
NM_005506.4(SCARB2):c.1385_1390delinsATGCATGCACC (p.Gly462fs) rs886041079
NM_005506.4(SCARB2):c.1412A>G (p.Glu471Gly) rs755903502
NM_005506.4(SCARB2):c.296del (p.Asn99fs) rs886041073
NM_005506.4(SCARB2):c.424-2A>C rs886041074
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter) rs121909119
NM_005506.4(SCARB2):c.704+1G>C rs886041076
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_006545.5(NPRL2):c.213C>G (p.Ile71Met) rs752423985
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg) rs1216562585
NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile) rs797044544
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) rs281865564
NM_172107.4(KCNQ2):c.1776C>G (p.Ile592Met) rs201868078
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876

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