ClinVar Miner

List of variants reported as benign for childhood epilepsy with centrotemporal spikes by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.*8535A>C rs767749 0.80853
NM_001134407.3(GRIN2A):c.*5818C>T rs8044472 0.79542
NM_001134407.3(GRIN2A):c.*6128A>G rs9933624 0.40853
NM_001134407.3(GRIN2A):c.*6609T>C rs1420040 0.40787
NM_001134407.3(GRIN2A):c.*6149C>G rs9940680 0.40187
NM_001134407.3(GRIN2A):c.*5884G>A rs8045712 0.35178
NM_001134407.3(GRIN2A):c.*2617G>C rs62034910 0.35138
NM_001134407.3(GRIN2A):c.*1212C>T rs1014531 0.34041
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806 0.33435
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=) rs2229193 0.27838
NM_001134407.3(GRIN2A):c.*2803A>G rs16966263 0.05252
NM_001134407.3(GRIN2A):c.*6906T>G rs17791953 0.03996
NM_001134407.3(GRIN2A):c.*2017C>G rs112151383 0.03330
NM_001134407.3(GRIN2A):c.*1385C>A rs113843373 0.02837
NM_001134407.3(GRIN2A):c.*8978G>C rs79818496 0.02700
NM_001134407.3(GRIN2A):c.*4739T>C rs111346223 0.02592
NM_001134407.3(GRIN2A):c.*3721T>C rs16966262 0.02182
NM_001134407.3(GRIN2A):c.*5775T>A rs9933772 0.02051
NM_001134407.3(GRIN2A):c.1329-8C>T rs7193290 0.01998
NM_001134407.3(GRIN2A):c.*121G>T rs75272984 0.01949
NM_001134407.3(GRIN2A):c.*5942G>A rs16966255 0.01879
NM_001134407.3(GRIN2A):c.*6452G>A rs74011019 0.01868
NM_001134407.3(GRIN2A):c.*6282T>A rs16966252 0.01699
NM_001134407.3(GRIN2A):c.*5776A>T rs78296872 0.01461
NM_001134407.3(GRIN2A):c.*490G>A rs9937910 0.01423
NM_001134407.3(GRIN2A):c.*8077T>G rs16966243 0.01351
NM_001134407.3(GRIN2A):c.*9517T>C rs16966242 0.01287
NM_001134407.3(GRIN2A):c.*9692A>G rs58340432 0.01284
NM_001134407.3(GRIN2A):c.*6444G>A rs149410193 0.01230
NM_001134407.3(GRIN2A):c.*2975G>A rs115979840 0.01156
NM_001134407.3(GRIN2A):c.*9632T>A rs114596802 0.01151
NM_001134407.3(GRIN2A):c.*4919C>T rs79849427 0.00898
NM_001134407.3(GRIN2A):c.*1474T>C rs144327233 0.00895
NM_001134407.3(GRIN2A):c.*5447G>T rs145736101 0.00881
NM_001134407.3(GRIN2A):c.*2924A>C rs77580194 0.00826
NM_001134407.3(GRIN2A):c.*6597G>A rs115306961 0.00812
NM_001134407.3(GRIN2A):c.*5045T>A rs148967966 0.00790
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_001134407.3(GRIN2A):c.*2396G>A rs113138480 0.00616
NM_001134407.3(GRIN2A):c.*4036A>G rs9921182 0.00616
NM_001134407.3(GRIN2A):c.*7349C>T rs191366035 0.00588
NM_001134407.3(GRIN2A):c.*5733C>T rs574207711 0.00502
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_001134407.3(GRIN2A):c.*6941C>T rs181271617 0.00489
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_001134407.3(GRIN2A):c.*5512T>C rs149933070 0.00434
NM_001134407.3(GRIN2A):c.*6475T>A rs78377517 0.00421
NM_001134407.3(GRIN2A):c.*5740A>C rs144545983 0.00382
NM_001134407.3(GRIN2A):c.*2210A>T rs148482120 0.00377
NM_001134407.3(GRIN2A):c.*39G>A rs141956850 0.00325
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464 0.00322
NM_001134407.3(GRIN2A):c.*6323C>T rs148431972 0.00320
NM_001134407.3(GRIN2A):c.*8396T>C rs192548671 0.00319
NM_001134407.3(GRIN2A):c.*5672C>T rs9922811 0.00314
NM_001134407.3(GRIN2A):c.*5598G>A rs13330899 0.00313
NM_001134407.3(GRIN2A):c.*7326C>T rs142407415 0.00299
NM_001134407.3(GRIN2A):c.*2236G>A rs147419689 0.00236
NM_001134407.3(GRIN2A):c.1652-13T>C rs201444481 0.00226
NM_001134407.3(GRIN2A):c.*7425T>A rs184642158 0.00200
NM_001134407.3(GRIN2A):c.*6545C>A rs59394706 0.00180
NM_001134407.3(GRIN2A):c.*5720C>G rs9922737 0.00153
NM_001134407.3(GRIN2A):c.3622C>A (p.Arg1208=) rs78544202 0.00143
NM_001134407.3(GRIN2A):c.*3687C>A rs150879081 0.00136
NM_001134407.3(GRIN2A):c.-34C>A rs564039694 0.00134
NM_001134407.3(GRIN2A):c.900C>T (p.Thr300=) rs143669998 0.00133
NM_001134407.3(GRIN2A):c.*3305C>A rs149492540 0.00124
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=) rs78241448 0.00119
NM_001134407.3(GRIN2A):c.*6472G>C rs143106212 0.00104
NM_001134407.3(GRIN2A):c.*1684A>C rs117255813 0.00071
NM_001134407.3(GRIN2A):c.*8753T>C rs182174522 0.00068
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 0.00059
NM_001134407.3(GRIN2A):c.*3220C>T rs192984749 0.00056
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301 0.00055
NM_001134407.3(GRIN2A):c.*6601G>C rs565650930 0.00044
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367 0.00042
NM_001134407.3(GRIN2A):c.-220C>T rs139646156 0.00037
NM_001134407.3(GRIN2A):c.942C>T (p.Pro314=) rs145172949 0.00031
NM_001134407.3(GRIN2A):c.939C>T (p.Ile313=) rs146867324 0.00030
NM_001134407.3(GRIN2A):c.2277C>T (p.Thr759=) rs148846694 0.00024
NM_001134407.3(GRIN2A):c.*3483C>T rs137977249 0.00023
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517 0.00022
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile) rs555768104 0.00021
NM_001134407.3(GRIN2A):c.2007+10C>T rs368110989 0.00019
NM_001134407.3(GRIN2A):c.*5996C>T rs548588993 0.00016
NM_001134407.3(GRIN2A):c.*6596C>T rs375205206 0.00016
NM_001134407.3(GRIN2A):c.*7089T>C rs148328605 0.00015
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=) rs148085725 0.00013
NM_001134407.3(GRIN2A):c.4356C>G (p.Arg1452=) rs140093291 0.00012
NM_001134407.3(GRIN2A):c.*4703C>T rs141406777 0.00011
NM_001134407.3(GRIN2A):c.*5112C>T rs553874602 0.00009
NM_001134407.3(GRIN2A):c.*6451C>T rs199950051 0.00009
NM_001134407.3(GRIN2A):c.447G>A (p.Ala149=) rs144464666 0.00009
NM_001134407.3(GRIN2A):c.*6449G>T rs140145510 0.00008
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser) rs143693526 0.00008
NM_001134407.3(GRIN2A):c.*5076G>C rs182876220 0.00006
NM_001134407.3(GRIN2A):c.2532G>A (p.Lys844=) rs754414929 0.00004
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=) rs113847665 0.00004
NM_001134407.3(GRIN2A):c.3427G>A (p.Glu1143Lys) rs61758996 0.00004
NM_001134407.3(GRIN2A):c.*1510C>T rs140491007 0.00003
NM_001134407.3(GRIN2A):c.*4251C>T rs537753852 0.00003
NM_001134407.3(GRIN2A):c.2478C>T (p.Ala826=) rs373628160 0.00003
NM_001134407.3(GRIN2A):c.*722G>A rs569360567 0.00001
NM_001134407.3(GRIN2A):c.1329-9T>G rs541442732 0.00001
NM_001134407.3(GRIN2A):c.2497A>G (p.Ile833Val) rs774656858 0.00001
NM_001134407.3(GRIN2A):c.3064C>T (p.Arg1022Cys) rs560057284 0.00001
NM_001134407.3(GRIN2A):c.*1002C>T rs144997779
NM_001134407.3(GRIN2A):c.*3753C>G rs78426284
NM_001134407.3(GRIN2A):c.*4304T>C rs79079877
NM_001134407.3(GRIN2A):c.*5365G>A rs554155423
NM_001134407.3(GRIN2A):c.*6384G>T rs13339551
NM_001134407.3(GRIN2A):c.*7112A>T rs143274147
NM_001134407.3(GRIN2A):c.*7324G>A rs16966244
NM_001134407.3(GRIN2A):c.*7324G>C rs16966244
NM_001134407.3(GRIN2A):c.*8714T>C rs571467101
NM_001134407.3(GRIN2A):c.*9325G>C rs117836220
NM_001134407.3(GRIN2A):c.*983T>C rs545042349
NM_001134407.3(GRIN2A):c.225C>T (p.Asn75=) rs527686036
NM_001134407.3(GRIN2A):c.2627T>A (p.Ile876Asn) rs199784503
NM_001134407.3(GRIN2A):c.2694C>T (p.Leu898=) rs569998469
NM_001134407.3(GRIN2A):c.3246C>T (p.Thr1082=) rs143039009
NM_001134407.3(GRIN2A):c.3591T>A (p.Gly1197=) rs532278751
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453

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