ClinVar Miner

List of variants in gene CDKL5 reported as pathogenic by Invitae

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Total variants: 25
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HGVS dbSNP
NC_000023.10:g.(?_18582577)_(18600090_?)del
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.2022del (p.Phe675fs) rs1060501860
NM_001323289.2(CDKL5):c.2142del (p.Tyr716fs) rs1569220925
NM_001323289.2(CDKL5):c.2326_2327del (p.Lys776fs)
NM_001323289.2(CDKL5):c.2343del (p.Arg781fs) rs62643614
NM_001323289.2(CDKL5):c.244del (p.Arg82fs) rs1555949041
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter)
NM_001323289.2(CDKL5):c.282+1G>T rs1569213054
NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly) rs1569215594
NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu) rs1569215629
NM_001323289.2(CDKL5):c.725del (p.Pro242fs) rs1555950494
NM_003159.2(CDKL5):c.1006C>T (p.Gln336Ter) rs1057518203
NM_003159.2(CDKL5):c.1246G>T (p.Glu416Ter) rs1555951991
NM_003159.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_003159.2(CDKL5):c.198_199TC[1] (p.Leu67fs) rs1555949011
NM_003159.2(CDKL5):c.2345C>A (p.Ser782Ter) rs1555954074
NM_003159.2(CDKL5):c.2345C>G (p.Ser782Ter)
NM_003159.2(CDKL5):c.2713+108del
NM_003159.2(CDKL5):c.508G>T (p.Glu170Ter) rs1555950066
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.614_617dup (p.Asp206fs) rs1555950465
NM_003159.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511

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