ClinVar Miner

List of variants reported as uncertain significance for Epileptic encephalopathy, childhood-onset by Invitae

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ClinVar version:
Total variants: 88
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HGVS dbSNP
NC_000015.9:g.(?_93496567)_(93528923_?)dup
NC_000015.9:g.(?_93540167)_(93558159_?)del
NM_001271.4(CHD2):c.107A>T (p.Gln36Leu) rs1064794584
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) rs143043614
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.1203T>A (p.His401Gln) rs1567137019
NM_001271.4(CHD2):c.1321A>T (p.Ile441Phe) rs763586960
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg) rs1567139944
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.1771G>A (p.Ala591Thr) rs1060503521
NM_001271.4(CHD2):c.1785A>G (p.Thr595=) rs1192477751
NM_001271.4(CHD2):c.1901T>C (p.Ile634Thr)
NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser)
NM_001271.4(CHD2):c.1994C>T (p.Pro665Leu) rs773901289
NM_001271.4(CHD2):c.2352+4G>C
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.2432T>C (p.Leu811Pro)
NM_001271.4(CHD2):c.2505+4A>G rs767309501
NM_001271.4(CHD2):c.2701G>A (p.Ala901Thr)
NM_001271.4(CHD2):c.2799G>A (p.Met933Ile) rs1567150265
NM_001271.4(CHD2):c.294+5C>T rs777934535
NM_001271.4(CHD2):c.3126C>G (p.Asp1042Glu) 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.3314C>T (p.Thr1105Met) rs1567152717
NM_001271.4(CHD2):c.3382G>A (p.Val1128Met)
NM_001271.4(CHD2):c.3422A>G (p.Lys1141Arg)
NM_001271.4(CHD2):c.3487G>C (p.Val1163Leu) rs1555444210
NM_001271.4(CHD2):c.3596-10T>G
NM_001271.4(CHD2):c.3735-6C>G
NM_001271.4(CHD2):c.3803G>A (p.Arg1268His)
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)
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.4219_4220delinsAT (p.Ser1407Ile) rs1567159959
NM_001271.4(CHD2):c.4274A>G (p.Glu1425Gly)
NM_001271.4(CHD2):c.4278+5T>C rs202174434
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.44T>C (p.Leu15Pro) rs1060503522
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu) rs755510106
NM_001271.4(CHD2):c.4721G>A (p.Gly1574Glu) rs56227200
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.4900_4906delinsT (p.Asn1634_Asp1636delinsTyr) rs1555445701
NM_001271.4(CHD2):c.4917C>A (p.Asp1639Glu)
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.5047G>A (p.Ala1683Thr) rs747794466
NM_001271.4(CHD2):c.5051A>G (p.His1684Arg)
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.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.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.871G>A (p.Asp291Asn) rs201819533
NM_001271.4(CHD2):c.878G>A (p.Ser293Asn) rs1555439526
NM_001271.4(CHD2):c.98C>T (p.Ser33Leu)

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