ClinVar Miner

List of variants reported as pathogenic for Epileptic encephalopathy by Neurogenetics Laboratory - MEYER, AOU Meyer

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) rs796053366
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001032221.6(STXBP1):c.1408G>T (p.Glu470Ter) rs1057519539
NM_001032221.6(STXBP1):c.1565G>A (p.Trp522Ter) rs1057519537
NM_001032221.6(STXBP1):c.57_59del (p.Ile19_Lys20delinsMet) rs1057519538
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001110792.2(MECP2):c.63-2890_517del
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001165963.4(SCN1A):c.1848G>C (p.Glu616Asp) rs1057519529
NM_001165963.4(SCN1A):c.4820_4821del (p.Ile1606_Phe1607insTer) rs796053083
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.1449_1452dup (p.Lys485fs) rs1057519542
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr) rs879255709
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_172107.4(KCNQ2):c.798T>A (p.Asp266Glu) rs1057519536
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
Single allele

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