ClinVar Miner

List of variants in gene CDKL5 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 10
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HGVS dbSNP
NM_001323289.2(CDKL5):c.1108_1109dup (p.Asn370fs) rs886043742
NM_001323289.2(CDKL5):c.1111del (p.Ala372fs) rs1555951958
NM_001323289.2(CDKL5):c.1152C>G (p.Tyr384Ter) rs794727064
NM_001323289.2(CDKL5):c.1365_1366insA (p.Gly456fs) rs886044424
NM_001323289.2(CDKL5):c.1553del (p.Pro518fs) rs886042899
NM_001323289.2(CDKL5):c.1891_1916del (p.Ile631fs) rs794727063
NM_001323289.2(CDKL5):c.212del (p.Asn71fs) rs886043296
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001323289.2(CDKL5):c.713del (p.Phe238fs) rs1555950486

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