ClinVar Miner

List of variants in gene CDKL5 reported as pathogenic by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 21
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HGVS dbSNP
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs) rs267608662
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs) rs267608497
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) rs267608500
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter) rs587783405
NM_003159.2(CDKL5):c.125A>G (p.Lys42Arg) rs267608429
NM_003159.2(CDKL5):c.1345G>T (p.Glu449Ter) rs1555952015
NM_003159.2(CDKL5):c.1345_1346del (p.Glu449fs) rs587783398
NM_003159.2(CDKL5):c.146-1G>A rs587783399
NM_003159.2(CDKL5):c.1684_1687del (p.Thr562fs) rs1555952101
NM_003159.2(CDKL5):c.1797dup (p.Ser600fs) rs587783401
NM_003159.2(CDKL5):c.1954C>T (p.Gln652Ter) rs267608647
NM_003159.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_003159.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_003159.2(CDKL5):c.65dupG rs267608420

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