ClinVar Miner

List of variants studied for Epileptic encephalopathy, childhood-onset

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ClinVar version:
Total variants: 213
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HGVS dbSNP
CHD2, ARG1644LYSFSTER22
CHD2, GLU1412GLYFSTER64
CHD2, GLY491VALFSTER13
CHD2, TRP548ARG
NC_000015.9:g.(?_93496567)_(93528923_?)dup
NC_000015.9:g.(?_93540167)_(93558159_?)del
NM_001271.3(CHD2):c.3787dupG (p.Val1263Glyfs) rs869312877
NM_001271.4(CHD2):c.1017G>A (p.Glu339=) rs141957556
NM_001271.4(CHD2):c.1038C>T (p.Asp346=) rs148706063
NM_001271.4(CHD2):c.1053G>A (p.Trp351Ter) rs1555439714
NM_001271.4(CHD2):c.107A>T (p.Gln36Leu) rs1064794584
NM_001271.4(CHD2):c.1081G>T (p.Glu361Ter) rs1555439719
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) rs143043614
NM_001271.4(CHD2):c.1135_1138del (p.Gln378_Ile379insTer) rs1567136357
NM_001271.4(CHD2):c.1139T>C (p.Val380Ala)
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.1172C>G (p.Ser391Cys)
NM_001271.4(CHD2):c.1188A>G (p.Thr396=) rs199553245
NM_001271.4(CHD2):c.1203T>A (p.His401Gln) rs1567137019
NM_001271.4(CHD2):c.1214C>T (p.Pro405Leu) rs370464322
NM_001271.4(CHD2):c.1215G>A (p.Pro405=) rs144294063
NM_001271.4(CHD2):c.1225A>C (p.Asn409His) rs531251618
NM_001271.4(CHD2):c.1321A>T (p.Ile441Phe) rs763586960
NM_001271.4(CHD2):c.1382_1383delinsAAGTCTGAA (p.Leu461delinsGlnValTer) rs1567138270
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001271.4(CHD2):c.1452dup (p.Arg485fs) rs864309535
NM_001271.4(CHD2):c.1502+1G>A rs864309536
NM_001271.4(CHD2):c.153C>T (p.Ser51=) rs201752698
NM_001271.4(CHD2):c.1552del (p.Gln518fs) rs869312705
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg) rs1567139944
NM_001271.4(CHD2):c.1642T>C (p.Trp548Arg) rs864309537
NM_001271.4(CHD2):c.1668A>G (p.Ala556=) rs1060504937
NM_001271.4(CHD2):c.1670C>T (p.Pro557Leu) rs1060503520
NM_001271.4(CHD2):c.1680C>T (p.Asn560=) rs368985360
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val) rs1060503518
NM_001271.4(CHD2):c.1720-155_1727delinsT
NM_001271.4(CHD2):c.174A>G (p.Glu58=) rs1168929886
NM_001271.4(CHD2):c.1769A>G (p.Asn590Ser) rs373555806
NM_001271.4(CHD2):c.1770C>T (p.Asn590=) rs149947056
NM_001271.4(CHD2):c.1771G>A (p.Ala591Thr) rs1060503521
NM_001271.4(CHD2):c.1773A>G (p.Ala591=) rs370425217
NM_001271.4(CHD2):c.1785A>G (p.Thr595=) rs1192477751
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=) rs144093014
NM_001271.4(CHD2):c.1805A>G (p.Asp602Gly) rs1567140845
NM_001271.4(CHD2):c.1808del (p.Lys603fs) rs864309538
NM_001271.4(CHD2):c.1809+1del rs397514739
NM_001271.4(CHD2):c.1809+3G>A rs778257286
NM_001271.4(CHD2):c.1810-2A>C rs398122999
NM_001271.4(CHD2):c.1883T>G (p.Leu628Ter) rs1555440885
NM_001271.4(CHD2):c.1901T>C (p.Ile634Thr)
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.1942C>T (p.Pro648Ser) rs864309539
NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser)
NM_001271.4(CHD2):c.1994C>T (p.Pro665Leu) rs773901289
NM_001271.4(CHD2):c.1995G>A (p.Pro665=) rs747900073
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001271.4(CHD2):c.2098A>C (p.Arg700=) rs776453537
NM_001271.4(CHD2):c.2337A>G (p.Gly779=) rs138084718
NM_001271.4(CHD2):c.2352+4G>C
NM_001271.4(CHD2):c.2353-10A>G rs190159225
NM_001271.4(CHD2):c.2358C>T (p.Leu786=) rs760012115
NM_001271.4(CHD2):c.235C>G (p.Leu79Val) rs1555437429
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798
NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter) rs146691368
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro)
NM_001271.4(CHD2):c.2468T>C (p.Leu823Pro) rs864309540
NM_001271.4(CHD2):c.2505+4A>G rs767309501
NM_001271.4(CHD2):c.2567A>G (p.Asp856Gly) rs864309541
NM_001271.4(CHD2):c.2577+7T>C rs146944583
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del)
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2701G>A (p.Ala901Thr)
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly) rs1567149962
NM_001271.4(CHD2):c.2724G>A (p.Lys908=) rs775276311
NM_001271.4(CHD2):c.2725C>T (p.Gln909Ter) rs864309542
NM_001271.4(CHD2):c.2728-3C>T rs2272460
NM_001271.4(CHD2):c.2730A>T (p.Val910=) rs77895180
NM_001271.4(CHD2):c.2765dup (p.Glu923fs) rs1555442886
NM_001271.4(CHD2):c.2785_2801delinsTG (p.Ala929_Val934delinsTer) rs1555442889
NM_001271.4(CHD2):c.2799G>A (p.Met933Ile) rs1567150265
NM_001271.4(CHD2):c.2835C>T (p.Thr945=) rs752124959
NM_001271.4(CHD2):c.2847G>A (p.Thr949=) rs756812749
NM_001271.4(CHD2):c.294+5C>T rs777934535
NM_001271.4(CHD2):c.2973+4A>G rs202244266
NM_001271.4(CHD2):c.2973G>A (p.Gln991=) rs903186613
NM_001271.4(CHD2):c.2998C>T (p.Arg1000Trp) rs758134774
NM_001271.4(CHD2):c.3126C>G (p.Asp1042Glu) rs150268140
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.3168G>T (p.Glu1056Asp) rs1555443360
NM_001271.4(CHD2):c.3237+5T>G rs1015228436
NM_001271.4(CHD2):c.3238-3C>T
NM_001271.4(CHD2):c.3238-5C>T rs1555443468
NM_001271.4(CHD2):c.330G>A (p.Arg110=) rs138626801
NM_001271.4(CHD2):c.3314C>T (p.Thr1105Met) rs1567152717
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=) rs141018126
NM_001271.4(CHD2):c.335C>G (p.Ser112Ter) rs864309534
NM_001271.4(CHD2):c.3366T>C (p.Ser1122=) rs781574098
NM_001271.4(CHD2):c.3382G>A (p.Val1128Met)
NM_001271.4(CHD2):c.3409C>T (p.Arg1137Ter) rs773860345
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter) rs1057518128
NM_001271.4(CHD2):c.3422A>G (p.Lys1141Arg)
NM_001271.4(CHD2):c.3487G>C (p.Val1163Leu) rs1555444210
NM_001271.4(CHD2):c.3540C>T (p.Ser1180=) rs76621355
NM_001271.4(CHD2):c.3552A>G (p.Ala1184=) rs144292068
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=) rs79219767
NM_001271.4(CHD2):c.3596-10T>G
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.3640G>A (p.Gly1214Arg)
NM_001271.4(CHD2):c.3735-6C>G
NM_001271.4(CHD2):c.3803G>A (p.Arg1268His)
NM_001271.4(CHD2):c.382-9A>C rs1555437848
NM_001271.4(CHD2):c.3849A>G (p.Leu1283=) rs1356992069
NM_001271.4(CHD2):c.3885+4A>G rs1555444612
NM_001271.4(CHD2):c.3893C>T (p.Pro1298Leu) rs1273405855
NM_001271.4(CHD2):c.390C>T (p.Ser130=) rs1555437851
NM_001271.4(CHD2):c.3924G>A (p.Lys1308=) rs745873112
NM_001271.4(CHD2):c.3979_3981AAG[1] (p.Lys1328del) rs1410645881
NM_001271.4(CHD2):c.4025G>A (p.Arg1342Gln)
NM_001271.4(CHD2):c.4034G>A (p.Arg1345Gln)
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870
NM_001271.4(CHD2):c.4078G>A (p.Gly1360Arg) rs146655995
NM_001271.4(CHD2):c.4079G>A (p.Gly1360Glu) rs1567159136
NM_001271.4(CHD2):c.4106C>G (p.Ser1369Ter) rs1567159145
NM_001271.4(CHD2):c.4138-6T>C rs182330071
NM_001271.4(CHD2):c.4165A>C (p.Lys1389Gln) rs762950368
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4174C>T (p.Gln1392Ter)
NM_001271.4(CHD2):c.4219T>A (p.Ser1407Thr) rs61756301
NM_001271.4(CHD2):c.4219_4220delinsAT (p.Ser1407Ile) rs1567159959
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del) rs746694647
NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs) rs864309543
NM_001271.4(CHD2):c.4256_4274del (p.Lys1419fs) rs864309544
NM_001271.4(CHD2):c.4274A>G (p.Glu1425Gly)
NM_001271.4(CHD2):c.4278+4ATG[3] rs780977518
NM_001271.4(CHD2):c.4278+5T>C rs202174434
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=) rs35339954
NM_001271.4(CHD2):c.4297A>G (p.Lys1433Glu) rs1567160905
NM_001271.4(CHD2):c.4315A>G (p.Lys1439Glu)
NM_001271.4(CHD2):c.4319G>T (p.Arg1440Leu)
NM_001271.4(CHD2):c.4363C>G (p.Pro1455Ala) rs1184559933
NM_001271.4(CHD2):c.4483G>A (p.Val1495Met) rs770993927
NM_001271.4(CHD2):c.44T>C (p.Leu15Pro) rs1060503522
NM_001271.4(CHD2):c.4505C>G (p.Thr1502Ser) rs956620619
NM_001271.4(CHD2):c.4527C>T (p.Ile1509=) rs34315566
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320
NM_001271.4(CHD2):c.4542C>T (p.Ala1514=) rs147115056
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu) rs755510106
NM_001271.4(CHD2):c.4599A>G (p.Leu1533=) rs150640503
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe)
NM_001271.4(CHD2):c.4668T>C (p.His1556=) rs749555682
NM_001271.4(CHD2):c.4721G>A (p.Gly1574Glu) rs56227200
NM_001271.4(CHD2):c.4721G>C (p.Gly1574Ala) rs56227200
NM_001271.4(CHD2):c.4724del (p.Gly1575fs) rs864309545
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715
NM_001271.4(CHD2):c.481G>A (p.Glu161Lys) rs1555438837
NM_001271.4(CHD2):c.4832C>T (p.Ser1611Phe)
NM_001271.4(CHD2):c.486A>C (p.Gln162His)
NM_001271.4(CHD2):c.4874A>G (p.Asn1625Ser) rs143431217
NM_001271.4(CHD2):c.4900_4906delinsT (p.Asn1634_Asp1636delinsTyr) rs1555445701
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4917C>A (p.Asp1639Glu)
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter) rs864309548
NM_001271.4(CHD2):c.4931_4932del (p.Arg1644fs) rs864309549
NM_001271.4(CHD2):c.4945G>A (p.Gly1649Ser) rs781717447
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.4978G>A (p.Asp1660Asn) rs61752830
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216
NM_001271.4(CHD2):c.5002C>T (p.His1668Tyr)
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr) rs747794466
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) rs139534358
NM_001271.4(CHD2):c.5051A>G (p.His1684Arg)
NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter)
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln) rs564787975
NM_001271.4(CHD2):c.5146T>G (p.Tyr1716Asp) rs1555446358
NM_001271.4(CHD2):c.516A>G (p.Gln172=) rs770631510
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His) rs1009699195
NM_001271.4(CHD2):c.5227C>T (p.Arg1743Ter)
NM_001271.4(CHD2):c.5248G>T (p.Ala1750Ser)
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His) rs201950393
NM_001271.4(CHD2):c.5279A>G (p.Asp1760Gly)
NM_001271.4(CHD2):c.5326C>G (p.Pro1776Ala) rs371006816
NM_001271.4(CHD2):c.5354C>T (p.Ser1785Leu)
NM_001271.4(CHD2):c.5389C>T (p.His1797Tyr)
NM_001271.4(CHD2):c.551+5A>C rs376498798
NM_001271.4(CHD2):c.574A>G (p.Lys192Glu) rs377701152
NM_001271.4(CHD2):c.594G>C (p.Gln198His) rs374064833
NM_001271.4(CHD2):c.595C>A (p.Arg199Ser)
NM_001271.4(CHD2):c.602A>T (p.Lys201Met)
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037
NM_001271.4(CHD2):c.628G>T (p.Glu210Ter) rs1567133726
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp) rs749147803
NM_001271.4(CHD2):c.633T>G (p.Asp211Glu) rs768365369
NM_001271.4(CHD2):c.688G>A (p.Val230Ile) rs762370978
NM_001271.4(CHD2):c.692+1G>C rs1555439036
NM_001271.4(CHD2):c.739G>T (p.Glu247Ter) rs1567135138
NM_001271.4(CHD2):c.758T>C (p.Val253Ala)
NM_001271.4(CHD2):c.835G>A (p.Ala279Thr) rs1313540517
NM_001271.4(CHD2):c.849A>G (p.Val283=) rs1476764301
NM_001271.4(CHD2):c.855G>A (p.Ala285=) rs138796857
NM_001271.4(CHD2):c.871G>A (p.Asp291Asn) rs201819533
NM_001271.4(CHD2):c.878G>A (p.Ser293Asn) rs1555439526
NM_001271.4(CHD2):c.879_883del (p.Ser293fs) rs1060503517
NM_001271.4(CHD2):c.881G>T (p.Gly294Val) rs771390521
NM_001271.4(CHD2):c.907G>A (p.Gly303Ser) rs200687736
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554
NM_001271.4(CHD2):c.98C>T (p.Ser33Leu)
NP_001262.3(CHD2):p.Asn1600Serfs*209
NP_001262.3(CHD2):p.Glu966SerfsTer2
NP_001262.3(CHD2):p.Gly1651TrpfsTer16
NP_001262.3(CHD2):p.Leu1591Xfs

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