ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP
NM_001271.4(CHD2):c.1017G>A (p.Glu339=) rs141957556
NM_001271.4(CHD2):c.153C>T (p.Ser51=) rs201752698
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=) rs144093014
NM_001271.4(CHD2):c.1995G>A (p.Pro665=) rs747900073
NM_001271.4(CHD2):c.2337A>G (p.Gly779=) rs138084718
NM_001271.4(CHD2):c.2353-10A>G rs190159225
NM_001271.4(CHD2):c.2577+7T>C rs146944583
NM_001271.4(CHD2):c.2728-3C>T rs2272460
NM_001271.4(CHD2):c.2730A>T (p.Val910=) rs77895180
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.330G>A (p.Arg110=) rs138626801
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=) rs141018126
NM_001271.4(CHD2):c.3540C>T (p.Ser1180=) rs76621355
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=) rs79219767
NM_001271.4(CHD2):c.4138-6T>C rs182330071
NM_001271.4(CHD2):c.4219T>A (p.Ser1407Thr) rs61756301
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=) rs35339954
NM_001271.4(CHD2):c.4527C>T (p.Ile1509=) rs34315566
NM_001271.4(CHD2):c.4721G>C (p.Gly1574Ala) rs56227200
NM_001271.4(CHD2):c.4874A>G (p.Asn1625Ser) rs143431217
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) rs139534358
NM_001271.4(CHD2):c.516A>G (p.Gln172=) rs770631510
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037
NM_001271.4(CHD2):c.855G>A (p.Ala285=) rs138796857
NM_001271.4(CHD2):c.907G>A (p.Gly303Ser) rs200687736
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554

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