ClinVar Miner

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

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 297
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HGVS dbSNP gnomAD frequency
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_000726.5(CACNB4):c.*5385C>T rs1568673 0.93666
NM_004287.5(GOSR2):c.*301T>C rs8078556 0.93627
NM_198859.4(PRICKLE2):c.*1605T>G rs26938 0.93091
NM_198859.4(PRICKLE2):c.*2772A>G rs27383 0.92477
NM_198859.4(PRICKLE2):c.*4733G>A rs153732 0.90732
NM_198859.4(PRICKLE2):c.*4797G>A rs153733 0.90729
NM_018100.4(EFHC1):c.*121C>A rs7757370 0.87583
NM_018100.4(EFHC1):c.*1180G>A rs4455668 0.87433
NM_000742.4(CHRNA2):c.*1809T>C rs2280375 0.86065
NM_000742.4(CHRNA2):c.*602T>C rs2292976 0.85227
NM_000742.4(CHRNA2):c.*511G>C rs2292977 0.82917
NM_001161352.2(KCNMA1):c.*1957C>T rs7073015 0.82683
NM_001134407.3(GRIN2A):c.*8535A>C rs767749 0.80853
NM_001134407.3(GRIN2A):c.*5818C>T rs8044472 0.79542
NM_153033.5(KCTD7):c.*944C>G rs9791712 0.67438
NM_153033.5(KCTD7):c.*2656A>G rs1860469 0.67430
NM_153033.5(KCTD7):c.*979C>A rs9791713 0.67429
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398 0.58886
NM_198859.4(PRICKLE2):c.*695A>C rs26937 0.54681
NM_153033.5(KCTD7):c.-44C>T rs35526611 0.51674
NM_153033.5(KCTD7):c.*3033T>C rs1860468 0.51466
NM_001161352.2(KCNMA1):c.*1571C>T rs10762733 0.49921
NM_004287.5(GOSR2):c.*2337T>C rs1052586 0.48306
NM_004287.5(GOSR2):c.*1519T>C rs4968286 0.44908
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_000742.4(CHRNA2):c.*1701C>A rs1057137 0.42655
NM_004287.5(GOSR2):c.*1733A>G rs758392 0.41414
NM_000742.4(CHRNA2):c.*1159T>C rs1560344 0.41008
NM_001134407.3(GRIN2A):c.*6128A>G rs9933624 0.40853
NM_001134407.3(GRIN2A):c.*6609T>C rs1420040 0.40787
NM_000742.4(CHRNA2):c.*755G>A rs2292974 0.40756
NM_000742.4(CHRNA2):c.*721G>T rs2292975 0.40648
NM_001134407.3(GRIN2A):c.*6149C>G rs9940680 0.40187
NM_000726.5(CACNB4):c.*442G>A rs7597215 0.39502
NM_004287.5(GOSR2):c.*1115G>A rs758391 0.38725
NM_198859.4(PRICKLE2):c.*3491A>G rs153730 0.35921
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380 0.35289
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
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_198859.4(PRICKLE2):c.*1763G>A rs26939 0.33203
NM_000726.5(CACNB4):c.*3804G>C rs2344734 0.33115
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=) rs2229193 0.27838
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393 0.25907
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_000742.4(CHRNA2):c.*1384C>T rs2280376 0.23196
NM_198859.4(PRICKLE2):c.*2797A>T rs35969433 0.18557
NM_198859.4(PRICKLE2):c.-557C>T rs697287 0.17712
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061 0.17492
NM_001122752.2(SERPINI1):c.-19+92G>A rs9835352 0.16968
NM_198859.4(PRICKLE2):c.*1310C>T rs17069879 0.16935
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553 0.16614
NM_000742.4(CHRNA2):c.-563T>A rs2565060 0.15796
NM_198859.4(PRICKLE2):c.*2891C>T rs34723451 0.15467
NM_198859.4(PRICKLE2):c.*2724C>A rs12494731 0.14074
NM_001161352.2(KCNMA1):c.*488C>A rs2116830 0.13876
NM_001122752.2(SERPINI1):c.51A>G (p.Thr17=) rs34582040 0.13147
NM_001122752.2(SERPINI1):c.21C>G (p.Phe7Leu) rs33917740 0.13145
NM_001122752.2(SERPINI1):c.576G>A (p.Ser192=) rs2229697 0.13143
NM_000726.5(CACNB4):c.*1185T>C rs13410490 0.11625
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819 0.11318
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_153033.5(KCTD7):c.*3752C>G rs73133851 0.10548
NM_000726.5(CACNB4):c.*1186G>T rs72868010 0.09750
NM_153033.5(KCTD7):c.*2805C>T rs1267818 0.09731
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_198586.3(NHLRC1):c.*621T>A rs10949481 0.08640
NM_198859.4(PRICKLE2):c.*2447G>A rs56262708 0.07615
NM_198586.3(NHLRC1):c.*336G>A rs10949482 0.06918
NM_000742.4(CHRNA2):c.-561A>T rs111661898 0.06819
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys) rs17853192 0.06550
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=) rs34460293 0.06381
NM_198586.3(NHLRC1):c.*626C>T rs10949480 0.06100
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_001134407.3(GRIN2A):c.*2803A>G rs16966263 0.05252
NM_000726.5(CACNB4):c.*5029T>C rs16830412 0.05230
NM_000726.5(CACNB4):c.*890G>C rs78697588 0.04885
NM_153033.5(KCTD7):c.*2080A>G rs73702140 0.04327
NM_198859.4(PRICKLE2):c.*1589G>A rs62249882 0.04161
NM_000742.4(CHRNA2):c.*1003G>A rs74974243 0.04107
NM_001134407.3(GRIN2A):c.*6906T>G rs17791953 0.03996
NM_153033.5(KCTD7):c.*1727G>C rs17229513 0.03560
NM_000100.3(CSTB):c.-54C>T rs59649299 0.03508
NM_001134407.3(GRIN2A):c.*2017C>G rs112151383 0.03330
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251 0.03213
NM_001134407.3(GRIN2A):c.*1385C>A rs113843373 0.02837
NM_000742.4(CHRNA2):c.*623G>A rs79796894 0.02803
NM_000742.4(CHRNA2):c.*1480C>T rs113471592 0.02800
NM_000742.4(CHRNA2):c.*936C>T rs112587531 0.02798
NM_000726.5(CACNB4):c.*3157T>A rs10497086 0.02768
NM_198859.4(PRICKLE2):c.*2567A>T rs62249881 0.02734
NM_001134407.3(GRIN2A):c.*8978G>C rs79818496 0.02700
NM_001134407.3(GRIN2A):c.*4739T>C rs111346223 0.02592
NM_153033.5(KCTD7):c.*708C>T rs79736939 0.02502
NM_198859.4(PRICKLE2):c.*3333T>C rs72874609 0.02403
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_001161352.2(KCNMA1):c.1578G>T (p.Leu526=) rs74140280 0.01852
NM_000100.4(CSTB):c.15G>T (p.Ala5=) rs4533 0.01826
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=) rs56298562 0.01760
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) rs77280228 0.01731
NM_001134407.3(GRIN2A):c.*6282T>A rs16966252 0.01699
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694 0.01695
NM_000100.4(CSTB):c.*74T>C rs6385 0.01682
NM_153033.5(KCTD7):c.*880T>C rs117143942 0.01621
NM_198586.3(NHLRC1):c.*237T>C rs73379118 0.01527
NM_198586.3(NHLRC1):c.*85T>A rs73379121 0.01526
NM_153033.4(KCTD7):c.*3961C>T rs144713969 0.01510
NM_001134407.3(GRIN2A):c.*5776A>T rs78296872 0.01461
NM_198586.3(NHLRC1):c.*276G>C rs11966748 0.01453
NM_001134407.3(GRIN2A):c.*490G>A rs9937910 0.01423
NM_001134407.3(GRIN2A):c.*8077T>G rs16966243 0.01351
NM_153033.5(KCTD7):c.654C>T (p.Asp218=) rs117194263 0.01331
NM_000742.4(CHRNA2):c.913C>T (p.Leu305=) rs114294066 0.01308
NM_001134407.3(GRIN2A):c.*9517T>C rs16966242 0.01287
NM_001134407.3(GRIN2A):c.*9692A>G rs58340432 0.01284
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=) rs56229264 0.01257
NM_001134407.3(GRIN2A):c.*6444G>A rs149410193 0.01230
NM_198859.4(PRICKLE2):c.-68G>A rs150393747 0.01201
NM_001134407.3(GRIN2A):c.*2975G>A rs115979840 0.01156
NM_001134407.3(GRIN2A):c.*9632T>A rs114596802 0.01151
NM_001122752.2(SERPINI1):c.838G>A (p.Ala280Thr) rs55872908 0.01092
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_198859.4(PRICKLE2):c.*1277C>G rs17069880 0.00857
NM_000742.4(CHRNA2):c.-424C>T rs55726427 0.00829
NM_001134407.3(GRIN2A):c.*2924A>C rs77580194 0.00826
NM_000742.4(CHRNA2):c.-422G>A rs80025940 0.00813
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_153033.5(KCTD7):c.*9G>T rs116630203 0.00745
NM_198586.3(NHLRC1):c.*344A>T rs147528518 0.00663
NM_001122752.2(SERPINI1):c.250+13A>G rs77880879 0.00659
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_000726.5(CACNB4):c.-25G>T rs143675846 0.00516
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_000742.4(CHRNA2):c.*1006G>A rs145560154 0.00467
NM_198859.4(PRICKLE2):c.*1044C>T rs111362297 0.00452
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545 0.00443
NM_001134407.3(GRIN2A):c.*5512T>C rs149933070 0.00434
NM_000742.4(CHRNA2):c.*108C>T rs147882344 0.00421
NM_001134407.3(GRIN2A):c.*6475T>A rs78377517 0.00421
NM_000742.4(CHRNA2):c.*1446A>G rs28697263 0.00411
NM_001134407.3(GRIN2A):c.*5740A>C rs144545983 0.00382
NM_153033.5(KCTD7):c.*216A>G rs77341088 0.00380
NM_001134407.3(GRIN2A):c.*2210A>T rs148482120 0.00377
NM_000742.4(CHRNA2):c.*285G>C rs111565880 0.00356
NM_000742.4(CHRNA2):c.*384G>A rs76428534 0.00349
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile) rs61750375 0.00340
NM_000742.4(CHRNA2):c.-379T>C rs75861520 0.00327
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_001122752.2(SERPINI1):c.297T>G (p.Ala99=) rs61761891 0.00319
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_001122752.2(SERPINI1):c.518A>G (p.Asp173Gly) rs61735309 0.00308
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_001134407.3(GRIN2A):c.*7326C>T rs142407415 0.00299
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) rs2229009 0.00285
NM_001122752.2(SERPINI1):c.40A>G (p.Ser14Gly) rs61735307 0.00240
NM_000742.4(CHRNA2):c.449+12T>C rs202012980 0.00236
NM_001134407.3(GRIN2A):c.*2236G>A rs147419689 0.00236
NM_001134407.3(GRIN2A):c.1652-13T>C rs201444481 0.00226
NM_000742.4(CHRNA2):c.-447T>A rs75312501 0.00225
NM_000742.4(CHRNA2):c.-45C>A rs12114756 0.00222
NM_001134407.3(GRIN2A):c.*7425T>A rs184642158 0.00200
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00181
NM_001134407.3(GRIN2A):c.*6545C>A rs59394706 0.00180
NM_007217.4(PDCD10):c.-438G>C rs546722173 0.00162
NM_001134407.3(GRIN2A):c.*5720C>G rs9922737 0.00153
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) rs143223159 0.00150
NM_001134407.3(GRIN2A):c.3622C>A (p.Arg1208=) rs78544202 0.00143
NM_001122752.2(SERPINI1):c.77T>C (p.Ile26Thr) rs146948408 0.00142
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_000742.4(CHRNA2):c.*1849A>G rs531828656 0.00130
NM_001134407.3(GRIN2A):c.*3305C>A rs149492540 0.00124
NM_000742.4(CHRNA2):c.*1403C>G rs376282591 0.00121
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=) rs78241448 0.00119
NM_000742.4(CHRNA2):c.*1117G>A rs7840761 0.00117
NM_001122752.2(SERPINI1):c.432T>C (p.Asn144=) rs140116256 0.00112
NM_001134407.3(GRIN2A):c.*6472G>C rs143106212 0.00104
NM_198586.3(NHLRC1):c.*886G>A rs146342540 0.00093
NM_001122752.2(SERPINI1):c.208A>G (p.Lys70Glu) rs11547811 0.00078
NM_001122752.2(SERPINI1):c.106C>A (p.Arg36Ser) rs61735306 0.00073
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_000742.4(CHRNA2):c.*771C>T rs572058986 0.00063
NM_001122752.2(SERPINI1):c.218G>A (p.Arg73His) rs139808176 0.00063
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_000742.4(CHRNA2):c.*1392A>G rs564765220 0.00052
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237 0.00046
NM_001134407.3(GRIN2A):c.*6601G>C rs565650930 0.00044
NM_001122752.2(SERPINI1):c.1183A>G (p.Met395Val) rs144637103 0.00043
NM_153033.5(KCTD7):c.*1926G>A rs117267079 0.00043
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367 0.00042
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser) rs144185168 0.00040
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys) rs141721605 0.00039
NM_001134407.3(GRIN2A):c.-220C>T rs139646156 0.00037
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00036
NM_000742.4(CHRNA2):c.*29G>A rs186509115 0.00034
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_000742.4(CHRNA2):c.340-15C>A rs373046238 0.00029
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085 0.00029
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_000742.4(CHRNA2):c.45C>T (p.Ser15=) rs149934219 0.00018
NM_001134407.3(GRIN2A):c.*5996C>T rs548588993 0.00016
NM_001134407.3(GRIN2A):c.*6596C>T rs375205206 0.00016
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile) rs151268950 0.00015
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_000742.4(CHRNA2):c.1099C>T (p.Arg367Trp) rs751699392 0.00007
NM_001134407.3(GRIN2A):c.*5076G>C rs182876220 0.00006
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp) rs376970816 0.00005
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_001122752.2(SERPINI1):c.404C>T (p.Ala135Val) rs746127233 0.00003
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_000742.4(CHRNA2):c.930C>T (p.Phe310=) rs554976506 0.00002
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=) rs535699325 0.00001
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_000100.3(CSTB):c.*325A>G rs28691645
NM_000726.5(CACNB4):c.*2188del rs75297236
NM_000726.5(CACNB4):c.*624del rs11291336
NM_000742.4(CHRNA2):c.*1024_*1026del rs151214233
NM_000742.4(CHRNA2):c.*1667G>A rs577078556
NM_000742.4(CHRNA2):c.-448G>A rs78426134
NM_000742.4(CHRNA2):c.339+12_339+13del rs139680977
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
NM_004287.5(GOSR2):c.*1711G>A rs11657819
NM_004287.5(GOSR2):c.-12G>C rs183199
NM_004287.5(GOSR2):c.-30G>C rs189899
NM_018100.4(EFHC1):c.*1749_*1750insAC rs58779695
NM_153033.4(KCTD7):c.*3935_*3937CAA[1] rs35961913
NM_153033.5(KCTD7):c.*690G>C rs4718382
NM_153033.5(KCTD7):c.-116C>T rs551906037
NM_198586.3(NHLRC1):c.*482C>G rs114713758
NM_198586.3(NHLRC1):c.*55G>C rs11966789
NM_198859.4(PRICKLE2):c.*4238C>T rs14056
NM_198859.4(PRICKLE2):c.*579del rs35195442

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