ClinVar Miner

List of variants in gene CHD2 reported as likely benign for Lennox-Gastaut syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP
NM_001271.4(CHD2):c.1038C>T (p.Asp346=) rs148706063
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu) rs200120256
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) rs143043614
NM_001271.4(CHD2):c.1188A>G (p.Thr396=) rs199553245
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.1220C>T (p.Pro407Leu) rs372219984
NM_001271.4(CHD2):c.1225A>C (p.Asn409His) rs531251618
NM_001271.4(CHD2):c.1233C>T (p.Pro411=)
NM_001271.4(CHD2):c.1321A>T (p.Ile441Phe) rs763586960
NM_001271.4(CHD2):c.1578G>A (p.Leu526=)
NM_001271.4(CHD2):c.1668A>G (p.Ala556=) rs1060504937
NM_001271.4(CHD2):c.1680C>T (p.Asn560=) rs368985360
NM_001271.4(CHD2):c.1764G>A (p.Lys588=) rs139263117
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.1809+3G>A rs778257286
NM_001271.4(CHD2):c.180T>G (p.Ser60=)
NM_001271.4(CHD2):c.1810-3T>C rs189339982
NM_001271.4(CHD2):c.2098A>C (p.Arg700=) rs776453537
NM_001271.4(CHD2):c.2352+7_2352+9del
NM_001271.4(CHD2):c.2358C>T (p.Leu786=) rs760012115
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798
NM_001271.4(CHD2):c.2724G>A (p.Lys908=) rs775276311
NM_001271.4(CHD2):c.2835C>T (p.Thr945=) rs752124959
NM_001271.4(CHD2):c.2843G>A (p.Arg948Gln)
NM_001271.4(CHD2):c.2973+4A>G rs202244266
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.3238-5C>T rs1555443468
NM_001271.4(CHD2):c.3366T>C (p.Ser1122=) rs781574098
NM_001271.4(CHD2):c.3552A>G (p.Ala1184=) rs144292068
NM_001271.4(CHD2):c.3570G>A (p.Glu1190=)
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs)
NM_001271.4(CHD2):c.3744A>G (p.Leu1248=) rs778897064
NM_001271.4(CHD2):c.382-9A>C rs1555437848
NM_001271.4(CHD2):c.3849A>G (p.Leu1283=) rs1356992069
NM_001271.4(CHD2):c.3924G>A (p.Lys1308=) rs745873112
NM_001271.4(CHD2):c.4009G>T (p.Ala1337Ser)
NM_001271.4(CHD2):c.4034G>A (p.Arg1345Gln)
NM_001271.4(CHD2):c.4034G>C (p.Arg1345Pro) rs751507887
NM_001271.4(CHD2):c.4078G>A (p.Gly1360Arg) rs146655995
NM_001271.4(CHD2):c.4165A>C (p.Lys1389Gln) rs762950368
NM_001271.4(CHD2):c.4191_4199CAAGGAGAA[1] (p.1397_1399NKE[1])
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del) rs746694647
NM_001271.4(CHD2):c.4278+4ATG[3] rs780977518
NM_001271.4(CHD2):c.4278+5T>C rs202174434
NM_001271.4(CHD2):c.4278+7A>T
NM_001271.4(CHD2):c.4321T>G (p.Ser1441Ala)
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.4505C>G (p.Thr1502Ser) rs956620619
NM_001271.4(CHD2):c.4512C>T (p.Asn1504=)
NM_001271.4(CHD2):c.4542C>T (p.Ala1514=) rs147115056
NM_001271.4(CHD2):c.4599A>G (p.Leu1533=) rs150640503
NM_001271.4(CHD2):c.4644G>A (p.Leu1548=) rs138836603
NM_001271.4(CHD2):c.4668T>C (p.His1556=) rs749555682
NM_001271.4(CHD2):c.4692+7T>C
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.4832C>T (p.Ser1611Phe)
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile)
NM_001271.4(CHD2):c.4953C>T (p.Gly1651=) rs201939255
NM_001271.4(CHD2):c.4958A>G (p.Asn1653Ser)
NM_001271.4(CHD2):c.4978G>A (p.Asp1660Asn) rs61752830
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571
NM_001271.4(CHD2):c.5063_5064delinsAT (p.Ser1688Asn) rs1555446342
NM_001271.4(CHD2):c.5083T>C (p.Ser1695Pro)
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469
NM_001271.4(CHD2):c.5146T>G (p.Tyr1716Asp) rs1555446358
NM_001271.4(CHD2):c.5174G>A (p.Arg1725Gln)
NM_001271.4(CHD2):c.5247C>T (p.Pro1749=) rs766244767
NM_001271.4(CHD2):c.5279A>G (p.Asp1760Gly)
NM_001271.4(CHD2):c.585G>A (p.Pro195=) rs371325259
NM_001271.4(CHD2):c.595C>A (p.Arg199Ser)
NM_001271.4(CHD2):c.600A>G (p.Gly200=) rs1057522302
NM_001271.4(CHD2):c.602A>T (p.Lys201Met)
NM_001271.4(CHD2):c.677C>T (p.Ala226Val)
NM_001271.4(CHD2):c.891C>T (p.Asp297=) rs567353575

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