ClinVar Miner

List of variants reported as likely benign for adolescent-onset epilepsy syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 261
Download table as spreadsheet
HGVS dbSNP
NM_000100.3(CSTB):c.*325A>G rs28691645
NM_000100.3(CSTB):c.*74T>C rs6385
NM_000100.3(CSTB):c.-54C>T rs59649299
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000726.4(CACNB4):c.*1009C>T rs367723727
NM_000726.4(CACNB4):c.*1093T>C rs142139235
NM_000726.4(CACNB4):c.*1110C>A rs147608603
NM_000726.4(CACNB4):c.*1284T>G rs112989362
NM_000726.4(CACNB4):c.*1459T>C rs114958916
NM_000726.4(CACNB4):c.*1656T>C rs62174451
NM_000726.4(CACNB4):c.*1814G>A rs181447432
NM_000726.4(CACNB4):c.*1909C>T rs113319414
NM_000726.4(CACNB4):c.*1910_*1911del rs372743707
NM_000726.4(CACNB4):c.*1942T>C rs139629003
NM_000726.4(CACNB4):c.*2163G>A rs80306085
NM_000726.4(CACNB4):c.*2188T>G rs548234328
NM_000726.4(CACNB4):c.*2210A>G rs114341631
NM_000726.4(CACNB4):c.*2391T>G rs143821304
NM_000726.4(CACNB4):c.*2695G>T rs74894311
NM_000726.4(CACNB4):c.*2729G>A rs144329745
NM_000726.4(CACNB4):c.*2778A>C rs114659375
NM_000726.4(CACNB4):c.*2837A>G rs138327808
NM_000726.4(CACNB4):c.*2885T>C rs116457978
NM_000726.4(CACNB4):c.*3475A>T rs567549082
NM_000726.4(CACNB4):c.*3668T>C rs543493236
NM_000726.4(CACNB4):c.*4131A>G rs373381936
NM_000726.4(CACNB4):c.*443A>G rs538829019
NM_000726.4(CACNB4):c.*4570T>C rs549017506
NM_000726.4(CACNB4):c.*4771G>A rs80248494
NM_000726.4(CACNB4):c.*4773A>G rs113408437
NM_000726.4(CACNB4):c.*4969G>A rs537140595
NM_000726.4(CACNB4):c.*4976T>C rs191424720
NM_000726.4(CACNB4):c.*4T>C rs556761275
NM_000726.4(CACNB4):c.*528A>T rs111999910
NM_000726.4(CACNB4):c.*5372T>C rs150406641
NM_000726.4(CACNB4):c.*5433A>G rs563567053
NM_000726.4(CACNB4):c.*5562A>G rs192309143
NM_000726.4(CACNB4):c.*5622C>T rs187012852
NM_000726.4(CACNB4):c.*5855A>C rs118093432
NM_000726.4(CACNB4):c.*6140G>T rs74944346
NM_000726.4(CACNB4):c.*6183A>G rs185830609
NM_000726.4(CACNB4):c.*787del rs560958457
NM_000726.4(CACNB4):c.*865G>A rs75365487
NM_000726.4(CACNB4):c.-70G>A rs183873853
NM_000726.4(CACNB4):c.1303-3T>C rs143442080
NM_000726.4(CACNB4):c.1413G>A (p.Arg471=) rs1805029
NM_000726.4(CACNB4):c.177G>A (p.Pro59=) rs552093496
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) rs200662010
NM_000726.4(CACNB4):c.521+9C>T rs747291810
NM_000726.4(CACNB4):c.599-15G>A rs41270209
NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe) rs200092211
NM_000726.4(CACNB4):c.8C>T (p.Ser3Phe) rs542973906
NM_000806.5(GABRA1):c.-441A>G rs11576001
NM_000806.5(GABRA1):c.74+9A>T rs41275339
NM_000833.5(GRIN2A):c.*3018G>C rs562770874
NM_000833.5(GRIN2A):c.*3341T>C rs576585646
NM_000833.5(GRIN2A):c.*3753C>G rs78426284
NM_000833.5(GRIN2A):c.*4281A>G rs570250938
NM_000833.5(GRIN2A):c.*4304T>C rs79079877
NM_000833.5(GRIN2A):c.*5076G>C rs182876220
NM_000833.5(GRIN2A):c.*5112C>T rs553874602
NM_000833.5(GRIN2A):c.*525G>A rs11575877
NM_000833.5(GRIN2A):c.*5365G>A rs554155423
NM_000833.5(GRIN2A):c.*6449G>T rs140145510
NM_000833.5(GRIN2A):c.*6846C>T rs566418840
NM_000833.5(GRIN2A):c.*7112A>T rs143274147
NM_000833.5(GRIN2A):c.*7650_*7654del rs537062402
NM_000833.5(GRIN2A):c.*9278C>T rs139007678
NM_000833.5(GRIN2A):c.*9325G>C rs117836220
NM_000833.5(GRIN2A):c.3246C>T (p.Thr1082=) rs143039009
NM_000833.5(GRIN2A):c.3427G>A (p.Glu1143Lys) rs61758996
NM_000833.5(GRIN2A):c.3884T>C (p.Ile1295Thr) rs757351084
NM_000833.5(GRIN2A):c.843C>T (p.Tyr281=) rs554338361
NM_001127644.2(GABRA1):c.*1506A>C rs998754
NM_001127644.2(GABRA1):c.*1929T>C rs2290733
NM_001127644.2(GABRA1):c.*470A>G rs2290732
NM_001127644.2(GABRA1):c.-142A>G rs12658835
NM_001127644.2(GABRA1):c.-31C>T rs4608967
NM_001127644.2(GABRA1):c.1059+15G>A rs2279020
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647
NM_001134407.3(GRIN2A):c.*1463C>T rs567206005
NM_001134407.3(GRIN2A):c.*1474T>C rs144327233
NM_001134407.3(GRIN2A):c.*1684A>C rs117255813
NM_001134407.3(GRIN2A):c.*2210A>T rs148482120
NM_001134407.3(GRIN2A):c.*2236G>A rs147419689
NM_001134407.3(GRIN2A):c.*2396G>A rs113138480
NM_001134407.3(GRIN2A):c.*2924A>C rs77580194
NM_001134407.3(GRIN2A):c.*2975G>A rs115979840
NM_001134407.3(GRIN2A):c.*3220C>T rs192984749
NM_001134407.3(GRIN2A):c.*3305C>A rs149492540
NM_001134407.3(GRIN2A):c.*3483C>T rs137977249
NM_001134407.3(GRIN2A):c.*39G>A rs141956850
NM_001134407.3(GRIN2A):c.*4036A>G rs9921182
NM_001134407.3(GRIN2A):c.*4251C>T rs537753852
NM_001134407.3(GRIN2A):c.*490G>A rs9937910
NM_001134407.3(GRIN2A):c.*4919C>T rs79849427
NM_001134407.3(GRIN2A):c.*5045T>A rs148967966
NM_001134407.3(GRIN2A):c.*5423T>C rs570847684
NM_001134407.3(GRIN2A):c.*5447G>T rs145736101
NM_001134407.3(GRIN2A):c.*5512T>C rs149933070
NM_001134407.3(GRIN2A):c.*5733C>T rs574207711
NM_001134407.3(GRIN2A):c.*5740A>C rs144545983
NM_001134407.3(GRIN2A):c.*5775T>A rs9933772
NM_001134407.3(GRIN2A):c.*5942G>A rs16966255
NM_001134407.3(GRIN2A):c.*5996C>T rs548588993
NM_001134407.3(GRIN2A):c.*6282T>A rs16966252
NM_001134407.3(GRIN2A):c.*6323C>T rs148431972
NM_001134407.3(GRIN2A):c.*6444G>A rs149410193
NM_001134407.3(GRIN2A):c.*6452G>A rs74011019
NM_001134407.3(GRIN2A):c.*6475T>A rs78377517
NM_001134407.3(GRIN2A):c.*6545C>A rs59394706
NM_001134407.3(GRIN2A):c.*6596C>T rs375205206
NM_001134407.3(GRIN2A):c.*6597G>A rs115306961
NM_001134407.3(GRIN2A):c.*6601G>C rs565650930
NM_001134407.3(GRIN2A):c.*6661G>A rs185399319
NM_001134407.3(GRIN2A):c.*6906T>G rs17791953
NM_001134407.3(GRIN2A):c.*6941C>T rs181271617
NM_001134407.3(GRIN2A):c.*6986A>G rs190006327
NM_001134407.3(GRIN2A):c.*722G>A rs569360567
NM_001134407.3(GRIN2A):c.*7349C>T rs191366035
NM_001134407.3(GRIN2A):c.*7898A>G rs530398129
NM_001134407.3(GRIN2A):c.*8077T>G rs16966243
NM_001134407.3(GRIN2A):c.*8396T>C rs192548671
NM_001134407.3(GRIN2A):c.*8536_*8537insC rs59371229
NM_001134407.3(GRIN2A):c.*8753T>C rs182174522
NM_001134407.3(GRIN2A):c.*9517T>C rs16966242
NM_001134407.3(GRIN2A):c.*9632T>A rs114596802
NM_001134407.3(GRIN2A):c.*9692A>G rs58340432
NM_001134407.3(GRIN2A):c.-220C>T rs139646156
NM_001134407.3(GRIN2A):c.-34C>A rs564039694
NM_001134407.3(GRIN2A):c.1652-13T>C rs201444481
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382
NM_001134407.3(GRIN2A):c.225C>T (p.Asn75=) rs527686036
NM_001134407.3(GRIN2A):c.2478C>T (p.Ala826=) rs373628160
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=) rs113847665
NM_001134407.3(GRIN2A):c.2694C>T (p.Leu898=) rs569998469
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465
NM_001134407.3(GRIN2A):c.3064C>T (p.Arg1022Cys) rs560057284
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001134407.3(GRIN2A):c.3622C>A (p.Arg1208=) rs78544202
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001134407.3(GRIN2A):c.4356C>G (p.Arg1452=) rs140093291
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=) rs148085725
NM_001134407.3(GRIN2A):c.83A>C (p.Glu28Ala) rs146839931
NM_001134407.3(GRIN2A):c.900C>T (p.Thr300=) rs143669998
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=) rs78241448
NM_001161352.2(KCNMA1):c.*113dup rs144100057
NM_001161352.2(KCNMA1):c.*1288A>T rs78082918
NM_001161352.2(KCNMA1):c.*1571C>T rs10762733
NM_001161352.2(KCNMA1):c.*1765T>C rs80189498
NM_001161352.2(KCNMA1):c.*1957C>T rs7073015
NM_001161352.2(KCNMA1):c.*321C>T rs7078702
NM_001161352.2(KCNMA1):c.*488C>A rs2116830
NM_001161352.2(KCNMA1):c.*634C>G rs74139846
NM_001161352.2(KCNMA1):c.*932G>T rs76644618
NM_001161352.2(KCNMA1):c.-101_-96dup rs545094311
NM_001161352.2(KCNMA1):c.117_119CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=) rs74140280
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly6_Gly7insSer) rs780558929
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) rs77280228
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) rs2229009
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097
NM_004287.4(GOSR2):c.*1062A>T rs16941324
NM_004287.4(GOSR2):c.*1067G>A rs11874
NM_004287.4(GOSR2):c.*1655A>G rs116123534
NM_004287.4(GOSR2):c.*2292C>T rs79673308
NM_004287.4(GOSR2):c.*2293G>A rs77706742
NM_004287.4(GOSR2):c.*2342A>G rs61745471
NM_004287.4(GOSR2):c.*288_*296dup rs376212419
NM_004287.4(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_005025.4(SERPINI1):c.*197T>C rs532826558
NM_005025.4(SERPINI1):c.*256dupT rs547381979
NM_005025.4(SERPINI1):c.-214A>G rs145045884
NM_005025.4(SERPINI1):c.106C>A (p.Arg36Ser) rs61735306
NM_005025.4(SERPINI1):c.1183A>G (p.Met395Val) rs144637103
NM_005025.4(SERPINI1):c.218G>A (p.Arg73His) rs139808176
NM_005025.4(SERPINI1):c.289G>A (p.Val97Ile) rs61750375
NM_005025.4(SERPINI1):c.404C>T (p.Ala135Val) rs746127233
NM_005025.4(SERPINI1):c.40A>G (p.Ser14Gly) rs61735307
NM_005025.4(SERPINI1):c.432T>C (p.Asn144=) rs140116256
NM_005025.4(SERPINI1):c.518A>G (p.Asp173Gly) rs61735309
NM_005025.4(SERPINI1):c.77T>C (p.Ile26Thr) rs146948408
NM_005025.4(SERPINI1):c.838G>A (p.Ala280Thr) rs55872908
NM_005097.3(LGI1):c.-280G>C rs74150339
NM_005097.4(LGI1):c.*215T>C rs17502662
NM_007217.4(PDCD10):c.-438G>C rs546722173
NM_018100.3(EFHC1):c.-146_-145delGC rs796720054
NM_018100.3(EFHC1):c.-195A>G rs2296196
NM_018100.4(EFHC1):c.*1025_*1026AT[12] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[9] rs59794069
NM_018100.4(EFHC1):c.*1325dup rs35994917
NM_018100.4(EFHC1):c.*1490C>A rs2397092
NM_018100.4(EFHC1):c.*2164G>A rs59722297
NM_018100.4(EFHC1):c.*233T>A rs538486876
NM_018100.4(EFHC1):c.*2419A>G rs9474228
NM_018100.4(EFHC1):c.*2972C>G rs9367485
NM_018100.4(EFHC1):c.*3144T>A rs3789772
NM_018100.4(EFHC1):c.*3192G>A rs3789771
NM_018100.4(EFHC1):c.*3406T>C rs6919266
NM_018100.4(EFHC1):c.*392A>C rs9463792
NM_018100.4(EFHC1):c.*871C>G rs78956562
NM_018100.4(EFHC1):c.*881A>T rs6926242
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018100.4(EFHC1):c.573+10A>G rs9349626
NM_020361.4(CPA6):c.-269G>A rs2553663
NM_020361.5(CPA6):c.*328A>G rs3395
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys) rs17853192
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819
NM_153026.3(PRICKLE1):c.*398G>T rs17091220
NM_153026.3(PRICKLE1):c.-122_-115CGCAGCCC[3] rs561368128
NM_153026.3(PRICKLE1):c.-181G>A rs117521428
NM_153026.3(PRICKLE1):c.-190C>G rs145508056
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200
NM_153033.4(KCTD7):c.*1727G>C rs17229513
NM_153033.4(KCTD7):c.*2080A>G rs73702140
NM_153033.4(KCTD7):c.*216A>G rs77341088
NM_153033.4(KCTD7):c.*2805C>T rs1267818
NM_153033.4(KCTD7):c.*3752C>G rs73133851
NM_153033.4(KCTD7):c.*690G>C rs4718382
NM_153033.4(KCTD7):c.*708C>T rs79736939
NM_153033.4(KCTD7):c.267G>A (p.Thr89=) rs3764904
NM_153033.4(KCTD7):c.654C>T (p.Asp218=) rs117194263
NM_198586.3(NHLRC1):c.*237T>C rs73379118
NM_198586.3(NHLRC1):c.*276G>C rs11966748
NM_198586.3(NHLRC1):c.*336G>A rs10949482
NM_198586.3(NHLRC1):c.*482C>G rs114713758
NM_198586.3(NHLRC1):c.*621T>A rs10949481
NM_198586.3(NHLRC1):c.*626C>T rs10949480
NM_198586.3(NHLRC1):c.*85T>A rs73379121
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931
NM_198859.4(PRICKLE2):c.*1277C>G rs17069880
NM_198859.4(PRICKLE2):c.*1589G>A rs62249882
NM_198859.4(PRICKLE2):c.*2447G>A rs56262708
NM_198859.4(PRICKLE2):c.*2567A>T rs62249881
NM_198859.4(PRICKLE2):c.*2724C>A rs12494731
NM_198859.4(PRICKLE2):c.*2797A>T rs35969433
NM_198859.4(PRICKLE2):c.*3333T>C rs72874609
NM_198859.4(PRICKLE2):c.*4238C>T rs14056
NM_198859.4(PRICKLE2):c.-252G>C rs142388795
NM_198859.4(PRICKLE2):c.-68G>A rs150393747
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=) rs34460293

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