ClinVar Miner

List of variants in gene CDKL5 reported as pathogenic for Developmental and epileptic encephalopathy, 2

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Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.-162-2A>G rs786204973
NM_001323289.2(CDKL5):c.100-2A>G rs267608423
NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs) rs786204964
NM_001323289.2(CDKL5):c.1037_1038delinsCAGATCTAA (p.Ile346fs)
NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter) rs267608561
NM_001323289.2(CDKL5):c.1079del (p.Leu360fs) rs267608565
NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs) rs267608566
NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs) rs1926261579
NM_001323289.2(CDKL5):c.1103dup (p.Asn368fs) rs1926262196
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter) rs267608618
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg) rs267608429
NM_001323289.2(CDKL5):c.1337C>G (p.Ser446Ter)
NM_001323289.2(CDKL5):c.1345G>T (p.Glu449Ter) rs1555952015
NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs) rs587783398
NM_001323289.2(CDKL5):c.1415_1416del (p.Thr472fs)
NM_001323289.2(CDKL5):c.1419del (p.Gln475fs) rs2147160726
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs) rs1602286391
NM_001323289.2(CDKL5):c.145+1G>A rs2147132274
NM_001323289.2(CDKL5):c.146-1G>A rs587783399
NM_001323289.2(CDKL5):c.146-1G>T
NM_001323289.2(CDKL5):c.1486A>T (p.Lys496Ter) rs1926283887
NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_001323289.2(CDKL5):c.1548C>A (p.Tyr516Ter) rs751789670
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1684_1687del (p.Thr562fs) rs1555952101
NM_001323289.2(CDKL5):c.173T>A (p.Leu58Ter) rs875989950
NM_001323289.2(CDKL5):c.1742dup (p.His581fs) rs1602286792
NM_001323289.2(CDKL5):c.1756_1759del (p.Ser586fs) rs1926298368
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs) rs786204974
NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs) rs587783401
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter) rs1926301954
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter) rs1602286899
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_001323289.2(CDKL5):c.1852_1853insT (p.Asp618fs) rs1926303951
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter) rs267608647
NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs) rs2147164191
NM_001323289.2(CDKL5):c.1994_1997del (p.Lys665fs)
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001323289.2(CDKL5):c.2016del (p.Ser673fs) rs267608648
NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs) rs267608648
NM_001323289.2(CDKL5):c.2047-1G>A rs267608650
NM_001323289.2(CDKL5):c.2066del (p.Pro689fs) rs267608651
NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs) rs786204977
NM_001323289.2(CDKL5):c.2105_2106del (p.His702fs) rs786204978
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2182del (p.His728fs) rs1926616715
NM_001323289.2(CDKL5):c.2276+1G>A rs1602292181
NM_001323289.2(CDKL5):c.2277-2A>G rs786204979
NM_001323289.2(CDKL5):c.229_232del (p.Glu77fs) rs267608441
NM_001323289.2(CDKL5):c.2325_2326del (p.Lys776fs) rs267608654
NM_001323289.2(CDKL5):c.2355_2358del (p.Lys786fs) rs1926837956
NM_001323289.2(CDKL5):c.2359_2363del (p.Lys787fs) rs1555954078
NM_001323289.2(CDKL5):c.2363_2367del (p.Lys788fs) rs267608655
NM_001323289.2(CDKL5):c.2376+1G>A rs267608656
NM_001323289.2(CDKL5):c.2376+1G>C rs267608656
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs) rs1555954737
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter) rs1602298653
NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter) rs17857094
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2504del (p.Pro835fs) rs267608660
NM_001323289.2(CDKL5):c.2529del (p.Leu843fs) rs267608661
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs) rs267608662
NM_001323289.2(CDKL5):c.2578C>T (p.Gln860Ter) rs1927139054
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2636del (p.Leu879fs) rs2147179000
NM_001323289.2(CDKL5):c.2673_2682del (p.Gln891fs) rs1927142990
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter) rs863225289
NM_001323289.2(CDKL5):c.275_276insAA (p.Glu93fs) rs786204982
NM_001323289.2(CDKL5):c.280A>T (p.Lys94Ter) rs2147139684
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001323289.2(CDKL5):c.283-3_290del rs786204983
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001323289.2(CDKL5):c.349_352del (p.Tyr117fs) rs2147142645
NM_001323289.2(CDKL5):c.349dup (p.Tyr117fs) rs1925420814
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg) rs863225290
NM_001323289.2(CDKL5):c.354_361del (p.Leu119fs) rs1925421198
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr) rs1602271692
NM_001323289.2(CDKL5):c.386del (p.Asn129fs) rs1602271718
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser) rs1922605766
NM_001323289.2(CDKL5):c.39del (p.Phe13fs) rs267608415
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter) rs267608472
NM_001323289.2(CDKL5):c.401G>C (p.Arg134Pro)
NM_001323289.2(CDKL5):c.403+1G>A rs786204984
NM_001323289.2(CDKL5):c.403+540_554+61del
NM_001323289.2(CDKL5):c.404-1G>A rs267608474
NM_001323289.2(CDKL5):c.404-1G>T rs267608474
NM_001323289.2(CDKL5):c.404-2A>G rs587783080
NM_001323289.2(CDKL5):c.425T>A (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.453del (p.Cys152fs) rs1555949763
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.456_457del (p.Cys152_Asp153delinsTer)
NM_001323289.2(CDKL5):c.458A>G (p.Asp153Gly) rs786204985
NM_001323289.2(CDKL5):c.463+1G>T rs267608479
NM_001323289.2(CDKL5):c.463+5G>A rs886042303
NM_001323289.2(CDKL5):c.464-2A>G rs267608480
NM_001323289.2(CDKL5):c.495dup (p.Ala166fs) rs1925573011
NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs) rs786204987
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.523A>G (p.Arg175Gly) rs1925574557
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_001323289.2(CDKL5):c.526T>G (p.Trp176Gly) rs587783084
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_001323289.2(CDKL5):c.539C>T (p.Pro180Leu) rs61749704
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs) rs267608497
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
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.620G>T (p.Gly207Val) rs2147148055
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter) rs587783405
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.630_631del (p.Leu210fs)
NM_001323289.2(CDKL5):c.64+1G>C rs1922607301
NM_001323289.2(CDKL5):c.64+2del rs267608419
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_001323289.2(CDKL5):c.665del (p.Thr222fs)
NM_001323289.2(CDKL5):c.670C>T (p.Gln224Ter) rs1925701271
NM_001323289.2(CDKL5):c.744+1G>A rs1925705674
NM_001323289.2(CDKL5):c.745-1G>T rs2147153521
NM_001323289.2(CDKL5):c.747dup (p.Pro250fs) rs875989880
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter) rs1555951146
NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs) rs267608528
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_001323289.2(CDKL5):c.867dup (p.Gln290fs) rs267608537
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter) rs1569218019
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.878dup (p.Asn293fs) rs1926080187
NM_001323289.2(CDKL5):c.884del (p.Pro295fs) rs267608542
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs) rs1602282699
NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs) rs267608546
NM_001323289.2(CDKL5):c.906del (p.Leu303fs) rs2147156191
NM_001323289.2(CDKL5):c.91A>G (p.Arg31Gly) rs786204991
NM_001323289.2(CDKL5):c.964dup (p.Thr322fs) rs267608552
NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)
NM_001323289.2(CDKL5):c.978-1G>A rs2147160087
NM_001323289.2(CDKL5):c.978-2A>G rs267608553
NM_001323289.2(CDKL5):c.99+1G>T rs267608421
NM_001323289.2(CDKL5):c.99+5G>A rs587783131
NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del
NM_003159.2(CDKL5):c.-162-?_145+?del
NM_003159.2(CDKL5):c.-162-?_64+?del
NM_003159.2(CDKL5):c.-162-?_99+?del
NM_003159.2(CDKL5):c.100-?_145+?del
NM_003159.2(CDKL5):c.65-?_99+?del
NM_003159.2(CDKL5):c.65dupG rs267608420
NM_003159.2(CDKL5):c.745-?_825+?del

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