ClinVar Miner

List of variants in gene CHD2 reported as uncertain significance for Lennox-Gastaut syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP
NC_000015.10:g.(?_92996937)_(93014929_?)del
NC_000015.9:g.(?_93496567)_(93528923_?)dup
NM_001271.4(CHD2):c.107A>T (p.Gln36Leu) rs1064794584
NM_001271.4(CHD2):c.1133A>T (p.Gln378Leu)
NM_001271.4(CHD2):c.1139T>C (p.Val380Ala) rs1596397712
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.1172C>G (p.Ser391Cys) rs542243995
NM_001271.4(CHD2):c.1174A>G (p.Thr392Ala)
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg) rs1567139944
NM_001271.4(CHD2):c.1618G>A (p.Val540Ile) rs1368222485
NM_001271.4(CHD2):c.1670C>T (p.Pro557Leu) rs1060503520
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val) rs1060503518
NM_001271.4(CHD2):c.1769A>G (p.Asn590Ser) rs373555806
NM_001271.4(CHD2):c.1785A>G (p.Thr595=) rs1192477751
NM_001271.4(CHD2):c.1805A>G (p.Asp602Gly) rs1567140845
NM_001271.4(CHD2):c.1901T>C (p.Ile634Thr) rs757715547
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser) rs768407397
NM_001271.4(CHD2):c.1994C>T (p.Pro665Leu) rs773901289
NM_001271.4(CHD2):c.2001G>A (p.Lys667=)
NM_001271.4(CHD2):c.2092C>T (p.Leu698Phe)
NM_001271.4(CHD2):c.2352+4G>C rs1173333743
NM_001271.4(CHD2):c.235C>G (p.Leu79Val) rs1555437429
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg)
NM_001271.4(CHD2):c.2438T>G (p.Phe813Cys)
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2701G>A (p.Ala901Thr) rs1596427988
NM_001271.4(CHD2):c.2792A>G (p.Lys931Arg) rs753058189
NM_001271.4(CHD2):c.2810A>C (p.His937Pro)
NM_001271.4(CHD2):c.2892T>G (p.Asn964Lys)
NM_001271.4(CHD2):c.294+5C>T rs777934535
NM_001271.4(CHD2):c.2973G>A (p.Gln991=) rs903186613
NM_001271.4(CHD2):c.2977A>G (p.Met993Val)
NM_001271.4(CHD2):c.3237+5T>G rs1015228436
NM_001271.4(CHD2):c.3238-3C>T rs1596437905
NM_001271.4(CHD2):c.3346C>T (p.Arg1116Cys)
NM_001271.4(CHD2):c.3382G>A (p.Val1128Met) rs776091604
NM_001271.4(CHD2):c.3422A>G (p.Lys1141Arg) rs1471418780
NM_001271.4(CHD2):c.3487G>C (p.Val1163Leu) rs1555444210
NM_001271.4(CHD2):c.3538A>G (p.Ser1180Gly) rs759269259
NM_001271.4(CHD2):c.3586G>A (p.Ala1196Thr)
NM_001271.4(CHD2):c.3596-10T>G rs1596446956
NM_001271.4(CHD2):c.3640G>A (p.Gly1214Arg) rs1596446980
NM_001271.4(CHD2):c.3662C>T (p.Ser1221Phe)
NM_001271.4(CHD2):c.3735-6C>G rs1235843668
NM_001271.4(CHD2):c.3803G>A (p.Arg1268His) rs1410226460
NM_001271.4(CHD2):c.3862C>T (p.Pro1288Ser)
NM_001271.4(CHD2):c.3885+4A>G rs1555444612
NM_001271.4(CHD2):c.3893C>T (p.Pro1298Leu) rs1273405855
NM_001271.4(CHD2):c.3979_3981AAG[1] (p.Lys1328del) rs1410645881
NM_001271.4(CHD2):c.4025G>A (p.Arg1342Gln) rs143503275
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870
NM_001271.4(CHD2):c.4079G>A (p.Gly1360Glu) rs1567159136
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4213A>G (p.Met1405Val)
NM_001271.4(CHD2):c.4219_4220delinsAT (p.Ser1407Ile) rs1567159959
NM_001271.4(CHD2):c.4258T>G (p.Ser1420Ala)
NM_001271.4(CHD2):c.4274A>G (p.Glu1425Gly) rs1304514223
NM_001271.4(CHD2):c.4297A>G (p.Lys1433Glu) rs1567160905
NM_001271.4(CHD2):c.4315A>G (p.Lys1439Glu) rs368570245
NM_001271.4(CHD2):c.4319G>T (p.Arg1440Leu) rs374157769
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met) rs779953123
NM_001271.4(CHD2):c.44T>C (p.Leu15Pro) rs1060503522
NM_001271.4(CHD2):c.4559A>T (p.Tyr1520Phe)
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu) rs755510106
NM_001271.4(CHD2):c.458A>G (p.Gln153Arg)
NM_001271.4(CHD2):c.4688A>G (p.Glu1563Gly)
NM_001271.4(CHD2):c.481G>A (p.Glu161Lys) rs1555438837
NM_001271.4(CHD2):c.486A>C (p.Gln162His) rs1018764419
NM_001271.4(CHD2):c.4897del (p.Ser1633fs)
NM_001271.4(CHD2):c.4900_4906delinsT (p.Asn1634_Asp1636delinsTyr) rs1555445701
NM_001271.4(CHD2):c.4917C>A (p.Asp1639Glu) rs575697793
NM_001271.4(CHD2):c.4944_4946TGG[2] (p.Gly1651del)
NM_001271.4(CHD2):c.4976G>A (p.Ser1659Asn) rs748829883
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216
NM_001271.4(CHD2):c.5002C>T (p.His1668Tyr) rs142534503
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln) rs564787975
NM_001271.4(CHD2):c.5071C>T (p.Pro1691Ser)
NM_001271.4(CHD2):c.5078A>G (p.Asn1693Ser)
NM_001271.4(CHD2):c.5134_5135CA[1] (p.His1712fs)
NM_001271.4(CHD2):c.5227C>T (p.Arg1743Ter) rs1596463906
NM_001271.4(CHD2):c.5233_5236del (p.Ser1745fs)
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys)
NM_001271.4(CHD2):c.5248G>T (p.Ala1750Ser) rs753595749
NM_001271.4(CHD2):c.5326C>G (p.Pro1776Ala) rs371006816
NM_001271.4(CHD2):c.532A>G (p.Arg178Gly) rs1596390679
NM_001271.4(CHD2):c.5354C>T (p.Ser1785Leu) rs1265214152
NM_001271.4(CHD2):c.5363G>A (p.Arg1788His)
NM_001271.4(CHD2):c.5389C>T (p.His1797Tyr) rs754174173
NM_001271.4(CHD2):c.551+5A>C rs376498798
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys) rs540770153
NM_001271.4(CHD2):c.574A>G (p.Lys192Glu) rs377701152
NM_001271.4(CHD2):c.584C>T (p.Pro195Leu)
NM_001271.4(CHD2):c.594G>C (p.Gln198His) rs374064833
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.668G>A (p.Arg223His)
NM_001271.4(CHD2):c.688G>A (p.Val230Ile) rs762370978
NM_001271.4(CHD2):c.758T>C (p.Val253Ala) rs773621487
NM_001271.4(CHD2):c.827C>T (p.Ala276Val)
NM_001271.4(CHD2):c.835G>A (p.Ala279Thr) rs1313540517
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.881G>T (p.Gly294Val) rs771390521
NM_001271.4(CHD2):c.98C>T (p.Ser33Leu) rs377012056

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