ClinVar Miner

List of variants in gene CDKL5 reported as likely pathogenic

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Total variants: 53
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HGVS dbSNP
GRCh37/hg19 Xp22.13(chrX:18465281-18542758)x2
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs) rs1569219331
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln) rs1555949009
NM_001323289.2(CDKL5):c.2038A>T (p.Lys680Ter) rs1569220754
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_003159.2(CDKL5):c.-253_-163+?del
NM_003159.2(CDKL5):c.113T>G (p.Ile38Ser) rs1555947847
NM_003159.2(CDKL5):c.121A>T (p.Ile41Phe) rs587783071
NM_003159.2(CDKL5):c.1238C>A (p.Ser413Ter) rs267608618
NM_003159.2(CDKL5):c.1471_1472dup (p.Leu492fs) rs1057518759
NM_003159.2(CDKL5):c.1596del (p.Thr533fs) rs1555952078
NM_003159.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_003159.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_003159.2(CDKL5):c.191T>C (p.Leu64Pro) rs267608435
NM_003159.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_003159.2(CDKL5):c.2046+1G>A rs786204976
NM_003159.2(CDKL5):c.211A>G (p.Asn71Asp) rs587783072
NM_003159.2(CDKL5):c.214_216del (p.Ile72del) rs786204960
NM_003159.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_003159.2(CDKL5):c.234_238dup (p.Arg80fs) rs1555949033
NM_003159.2(CDKL5):c.2376+5G>A rs267608657
NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_003159.2(CDKL5):c.2480_2486dup (p.Gln830fs) rs1555954752
NM_003159.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755
NM_003159.2(CDKL5):c.393T>G (p.Ile131Met) rs1085307934
NM_003159.2(CDKL5):c.403G>C (p.Asp135His) rs1064794919
NM_003159.2(CDKL5):c.404-3C>A rs587783079
NM_003159.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_003159.2(CDKL5):c.473G>C (p.Arg158Pro) rs757402424
NM_003159.2(CDKL5):c.524G>T (p.Arg175Ile) rs1064794734
NM_003159.2(CDKL5):c.526T>A (p.Trp176Arg) rs587783084
NM_003159.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.554+1G>A rs1555950083
NM_003159.2(CDKL5):c.58G>C (p.Gly20Arg) rs267608418
NM_003159.2(CDKL5):c.590T>G (p.Val197Gly) rs1057521806
NM_003159.2(CDKL5):c.59G>A (p.Gly20Asp) rs786204962
NM_003159.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_003159.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_003159.2(CDKL5):c.626C>G (p.Pro209Arg) rs587783088
NM_003159.2(CDKL5):c.656A>C (p.Gln219Pro) rs786204963
NM_003159.2(CDKL5):c.680T>G (p.Leu227Arg) rs267608515
NM_003159.2(CDKL5):c.826-2A>G rs1060501859
NM_003159.2(CDKL5):c.854G>A (p.Arg285Lys) rs1064795672
NM_003159.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_003159.2(CDKL5):c.871T>C (p.Cys291Arg) rs1131691376
NM_003159.2(CDKL5):c.99+1G>T rs267608421

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