ClinVar Miner

List of variants in gene CDKL5 studied for Epileptic encephalopathy

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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.1921_1922del (p.Ser641fs) rs1569219844
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.632T>C (p.Phe211Ser) rs2147148081

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