ClinVar Miner

List of variants reported as pathogenic for Epileptic encephalopathy, childhood-onset by GeneReviews

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Total variants: 23
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HGVS dbSNP
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001271.4(CHD2):c.1452dup (p.Arg485fs) rs864309535
NM_001271.4(CHD2):c.1502+1G>A rs864309536
NM_001271.4(CHD2):c.1642T>C (p.Trp548Arg) rs864309537
NM_001271.4(CHD2):c.1808del (p.Lys603fs) rs864309538
NM_001271.4(CHD2):c.1942C>T (p.Pro648Ser) rs864309539
NM_001271.4(CHD2):c.2468T>C (p.Leu823Pro) rs864309540
NM_001271.4(CHD2):c.2567A>G (p.Asp856Gly) rs864309541
NM_001271.4(CHD2):c.2725C>T (p.Gln909Ter) rs864309542
NM_001271.4(CHD2):c.335C>G (p.Ser112Ter) rs864309534
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs) rs864309543
NM_001271.4(CHD2):c.4256_4274del (p.Lys1419fs) rs864309544
NM_001271.4(CHD2):c.4724del (p.Gly1575fs) rs864309545
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter) rs864309548
NM_001271.4(CHD2):c.4931_4932del (p.Arg1644fs) rs864309549
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NP_001262.3(CHD2):p.Asn1600Serfs*209
NP_001262.3(CHD2):p.Glu966SerfsTer2
NP_001262.3(CHD2):p.Gly1651TrpfsTer16
NP_001262.3(CHD2):p.Leu1591Xfs

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