ClinVar Miner

List of variants in gene CDKL5 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.2876C>G (p.Ala959Gly) rs1602300882
NM_001323289.2(CDKL5):c.343T>A (p.Tyr115Asn) rs1602271643
NM_001323289.2(CDKL5):c.520del (p.Thr174fs) rs1602274251
NM_001323289.2(CDKL5):c.611T>G (p.Leu204Arg) rs1602276088
NM_001323289.2(CDKL5):c.898C>T (p.Gln300Ter) rs1602282692

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