ClinVar Miner

List of variants reported as likely pathogenic for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln) rs1429234959 0.00001
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu) rs150951454 0.00001
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg) rs1697439559 0.00001
GRCh37/hg19 3p25.3(chr3:11076181-11078707)x1
GRCh37/hg19 3p25.3(chr3:9974258-11078781)x1
NC_000003.11:g.(?_11060264)_(11071058_?)dup
NC_000015.9:g.(?_93540167)_(93540653_?)dup
NC_000015.9:g.(?_93547827)_(93558159_?)dup
NM_000814.6(GABRB3):c.154C>A (p.Leu52Ile)
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)
NM_000814.6(GABRB3):c.173-2A>T rs1891176092
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg) rs1064794797
NM_000814.6(GABRB3):c.493C>T (p.Leu165Phe)
NM_000814.6(GABRB3):c.496A>G (p.Arg166Gly) rs1890857965
NM_000814.6(GABRB3):c.630G>C (p.Gln210His) rs1890744574
NM_000814.6(GABRB3):c.730G>A (p.Gly244Arg)
NM_000814.6(GABRB3):c.733T>C (p.Tyr245His) rs1890229646
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
NM_000814.6(GABRB3):c.767T>A (p.Leu256Gln) rs1890228169
NM_000814.6(GABRB3):c.778C>G (p.Leu260Val) rs2140696722
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) rs1555401442
NM_000814.6(GABRB3):c.845C>G (p.Thr282Ser)
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg) rs1889966043
NM_000814.6(GABRB3):c.914C>T (p.Ala305Val) rs1555401425
NM_001271.4(CHD2):c.1053-2A>C
NM_001271.4(CHD2):c.1053-2A>T
NM_001271.4(CHD2):c.1126C>T (p.Gln376Ter) rs2053431254
NM_001271.4(CHD2):c.1151_1153+4del rs2053431516
NM_001271.4(CHD2):c.1154-1G>T
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.1198+2T>C
NM_001271.4(CHD2):c.1244G>T (p.Cys415Phe)
NM_001271.4(CHD2):c.1503-2A>G
NM_001271.4(CHD2):c.1570dup (p.Ser524fs)
NM_001271.4(CHD2):c.1628C>A (p.Ser543Tyr)
NM_001271.4(CHD2):c.1720-155_1727delinsT rs1596406306
NM_001271.4(CHD2):c.1809+1G>A rs1057520592
NM_001271.4(CHD2):c.1862G>C (p.Arg621Pro) rs2141816539
NM_001271.4(CHD2):c.1882_1883del (p.Leu628fs)
NM_001271.4(CHD2):c.1898dup (p.Ile634fs)
NM_001271.4(CHD2):c.1934C>A (p.Thr645Lys) rs2053619460
NM_001271.4(CHD2):c.1934C>G (p.Thr645Arg)
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.2080G>T (p.Glu694Ter)
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2190-1G>C rs2053845402
NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro) rs1596419511
NM_001271.4(CHD2):c.2435T>C (p.Ile812Thr) rs2141836224
NM_001271.4(CHD2):c.2470G>C (p.Ala824Pro)
NM_001271.4(CHD2):c.2514_2524del (p.Asp838fs) rs2141839134
NM_001271.4(CHD2):c.2605_2606delinsTT (p.Ala869Phe)
NM_001271.4(CHD2):c.2612G>A (p.Gly871Asp)
NM_001271.4(CHD2):c.2636C>G (p.Ala879Gly)
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val) rs1555442813
NM_001271.4(CHD2):c.2644GTC[1] (p.Val883del)
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del) rs1596427937
NM_001271.4(CHD2):c.2667_2668insGTTTTG (p.Trp889_Asn890insValLeu) rs2141843225
NM_001271.4(CHD2):c.2670C>G (p.Asn890Lys)
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg) rs1596427970
NM_001271.4(CHD2):c.2689G>A (p.Ala897Thr)
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2699G>T (p.Arg900Leu) rs1567149946
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly)
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del) rs2053946125
NM_001271.4(CHD2):c.2764del (p.Glu922fs) rs2141844216
NM_001271.4(CHD2):c.2765A>C (p.Glu922Ala)
NM_001271.4(CHD2):c.2809C>G (p.His937Asp) rs1596429174
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro) rs2053946404
NM_001271.4(CHD2):c.2816T>G (p.Val939Gly)
NM_001271.4(CHD2):c.2876+1G>T
NM_001271.4(CHD2):c.294+1G>T
NM_001271.4(CHD2):c.3069dup (p.Ala1024fs)
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp) rs2141850669
NM_001271.4(CHD2):c.3237+1G>A
NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg)
NM_001271.4(CHD2):c.3414-2A>G
NM_001271.4(CHD2):c.3428A>G (p.Tyr1143Cys)
NM_001271.4(CHD2):c.3454C>G (p.Arg1152Gly) rs1596443241
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp) rs1596443241
NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly)
NM_001271.4(CHD2):c.3542G>T (p.Cys1181Phe) rs2141861661
NM_001271.4(CHD2):c.3637T>C (p.Ser1213Pro)
NM_001271.4(CHD2):c.3700_3707del (p.Lys1234fs) rs2054197493
NM_001271.4(CHD2):c.3735-1G>A
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.381+1G>A rs2053081680
NM_001271.4(CHD2):c.3815G>A (p.Gly1272Glu) rs2141867671
NM_001271.4(CHD2):c.3886-1G>C
NM_001271.4(CHD2):c.390C>T (p.Ser130=) rs1555437851
NM_001271.4(CHD2):c.4009-2A>G
NM_001271.4(CHD2):c.4109A>G (p.Asp1370Gly) rs2141871764
NM_001271.4(CHD2):c.4137+2T>C
NM_001271.4(CHD2):c.4137+3A>G
NM_001271.4(CHD2):c.4278+1G>A rs2141873750
NM_001271.4(CHD2):c.4414-2A>G rs2141881521
NM_001271.4(CHD2):c.443+1G>A rs2141755359
NM_001271.4(CHD2):c.4492C>T (p.Gln1498Ter)
NM_001271.4(CHD2):c.4560del (p.Ser1521fs) rs2054360719
NM_001271.4(CHD2):c.4600T>C (p.Trp1534Arg)
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe) rs1596456893
NM_001271.4(CHD2):c.4780C>T (p.Gln1594Ter)
NM_001271.4(CHD2):c.4906+1G>T rs2141888378
NM_001271.4(CHD2):c.692+1G>C rs1555439036
NM_001271.4(CHD2):c.693-1G>A rs2053387699
NM_001271.4(CHD2):c.693-3C>A rs2141785016
NM_001271.4(CHD2):c.789dup (p.Glu264Ter) rs2053388293
NM_003042.4(SLC6A1):c.-93G>A
NM_003042.4(SLC6A1):c.1000G>A (p.Ala334Thr) rs749240316
NM_003042.4(SLC6A1):c.1012A>T (p.Ile338Phe) rs2124926302
NM_003042.4(SLC6A1):c.1070C>A (p.Ala357Glu) rs1553689859
NM_003042.4(SLC6A1):c.1078+1G>C
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003042.4(SLC6A1):c.1097_1098delinsCT (p.Leu366Pro)
NM_003042.4(SLC6A1):c.1099G>A (p.Ala367Thr) rs1697748409
NM_003042.4(SLC6A1):c.1151TCT[2] (p.Phe386del) rs2124930894
NM_003042.4(SLC6A1):c.1191+1G>A rs2124930966
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.1328G>A (p.Gly443Asp) rs1697891755
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1427-1G>A rs1553691674
NM_003042.4(SLC6A1):c.1427-9A>G rs1698019472
NM_003042.4(SLC6A1):c.1459A>G (p.Met487Val)
NM_003042.4(SLC6A1):c.1460T>C (p.Met487Thr) rs1559639240
NM_003042.4(SLC6A1):c.149G>T (p.Arg50Leu) rs766945941
NM_003042.4(SLC6A1):c.1527+1G>A
NM_003042.4(SLC6A1):c.1528-1G>C rs1574924801
NM_003042.4(SLC6A1):c.1531G>T (p.Val511Leu)
NM_003042.4(SLC6A1):c.1598G>A (p.Gly533Asp)
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.1695+1G>A
NM_003042.4(SLC6A1):c.176G>A (p.Gly59Asp)
NM_003042.4(SLC6A1):c.179A>C (p.Tyr60Ser) rs2124905507
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser) rs1057523845
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg) rs1064795852
NM_003042.4(SLC6A1):c.223G>C (p.Gly75Arg) rs1064795852
NM_003042.4(SLC6A1):c.224G>A (p.Gly75Glu) rs2124905654
NM_003042.4(SLC6A1):c.232G>T (p.Gly78Cys) rs2124905696
NM_003042.4(SLC6A1):c.241G>A (p.Ala81Thr)
NM_003042.4(SLC6A1):c.256T>C (p.Tyr86His)
NM_003042.4(SLC6A1):c.281G>A (p.Gly94Glu) rs1553688015
NM_003042.4(SLC6A1):c.317A>G (p.Gln106Arg) rs1064795290
NM_003042.4(SLC6A1):c.362del (p.Met121fs)
NM_003042.4(SLC6A1):c.370+2T>C
NM_003042.4(SLC6A1):c.370+2del rs2124907093
NM_003042.4(SLC6A1):c.471+1G>T rs1559623389
NM_003042.4(SLC6A1):c.472-1G>C rs1697337518
NM_003042.4(SLC6A1):c.518G>A (p.Cys173Tyr)
NM_003042.4(SLC6A1):c.715-1G>C
NM_003042.4(SLC6A1):c.739C>T (p.Pro247Ser)
NM_003042.4(SLC6A1):c.757del (p.Ile253fs)
NM_003042.4(SLC6A1):c.801del (p.Ile268fs) rs1574906665
NM_003042.4(SLC6A1):c.806T>C (p.Leu269Pro) rs2124924369
NM_003042.4(SLC6A1):c.809T>C (p.Phe270Ser) rs1553689580
NM_003042.4(SLC6A1):c.836T>C (p.Leu279Pro) rs2124924511
NM_003042.4(SLC6A1):c.838_841del (p.Ser280fs) rs2124924504
NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter) rs2124924957
NM_003042.4(SLC6A1):c.862G>A (p.Ala288Thr) rs2124924976
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del) rs1574907198
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003042.4(SLC6A1):c.896G>T (p.Gly299Val)
NM_003042.4(SLC6A1):c.901_909del (p.Gly301_Leu303del)
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr) rs1391625316
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg) rs1553689696
NM_003042.4(SLC6A1):c.991A>G (p.Ser331Gly) rs2124926212
NM_003042.4(SLC6A1):c.994del (p.Met332fs)
NM_004408.4(DNM1):c.1076G>A (p.Gly359Glu)
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly) rs1835085971
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys) rs1835087040
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp) rs1833622746
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004408.4(DNM1):c.1343A>C (p.Gln448Pro)
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_004408.4(DNM1):c.1423-1G>T
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu) rs1554781553
NM_004408.4(DNM1):c.1726G>A (p.Glu576Lys) rs2131283599
NM_004408.4(DNM1):c.1943T>C (p.Met648Thr)
NM_004408.4(DNM1):c.2045C>G (p.Pro682Arg)
NM_004408.4(DNM1):c.206del (p.Leu69fs)
NM_004408.4(DNM1):c.236-2A>C
NM_004408.4(DNM1):c.2369del (p.Pro790fs)
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg) rs1564328617
NM_004408.4(DNM1):c.415_423del (p.Gly139_Thr141del)
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu) rs1588352395
NM_004408.4(DNM1):c.442C>A (p.Gln148Lys) rs1554772945
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) rs1554772959
NM_004408.4(DNM1):c.465_467dup (p.Gln155_Ile156insMet) rs1057518655
NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr) rs1834792032
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) rs1057524561
NM_004408.4(DNM1):c.632A>T (p.Asp211Val)
NM_004408.4(DNM1):c.718_720del (p.Lys240del)
NM_032108.4(SEMA6B):c.2138C>T (p.Thr713Met) rs2145342338

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