ClinVar Miner

List of variants reported as likely benign for Epileptic encephalopathy, childhood-onset by Invitae

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Total variants: 34
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HGVS dbSNP
NM_001271.4(CHD2):c.1038C>T (p.Asp346=) rs148706063
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.1225A>C (p.Asn409His) rs531251618
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.174A>G (p.Glu58=) rs1168929886
NM_001271.4(CHD2):c.1770C>T (p.Asn590=) rs149947056
NM_001271.4(CHD2):c.1773A>G (p.Ala591=) rs370425217
NM_001271.4(CHD2):c.1809+3G>A rs778257286
NM_001271.4(CHD2):c.2098A>C (p.Arg700=) rs776453537
NM_001271.4(CHD2):c.2358C>T (p.Leu786=) rs760012115
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.2847G>A (p.Thr949=) rs756812749
NM_001271.4(CHD2):c.2973+4A>G rs202244266
NM_001271.4(CHD2):c.2998C>T (p.Arg1000Trp) rs758134774
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.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.4165A>C (p.Lys1389Gln) rs762950368
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del) rs746694647
NM_001271.4(CHD2):c.4278+4ATG[3] rs780977518
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.4542C>T (p.Ala1514=) rs147115056
NM_001271.4(CHD2):c.4599A>G (p.Leu1533=) rs150640503
NM_001271.4(CHD2):c.4668T>C (p.His1556=) rs749555682
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571
NM_001271.4(CHD2):c.5146T>G (p.Tyr1716Asp) rs1555446358

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