ClinVar Miner

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

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_001323289.2(CDKL5):c.99+34A>G rs137874941 0.00069
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744 0.00006
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala) rs751995225 0.00002
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631 0.00001
NM_001323289.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964 0.00001
NM_001323289.2(CDKL5):c.2297G>A (p.Ser766Asn)
NM_001323289.2(CDKL5):c.2377-1232G>A

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