ClinVar Miner

List of variants in gene CDKL5 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_18525053)_(18613568_?)del
NC_000023.10:g.(?_18525053)_(18622998_?)del
NC_000023.10:g.(?_18525211)_(18528980_?)dup
NC_000023.10:g.(?_18582577)_(18646727_?)del
NC_000023.10:g.(?_18582587)_(18627700_?)dup
NC_000023.11:g.(?_18506933)_(18510874_?)del
NC_000023.11:g.(?_18506933)_(18604888_?)del
NC_000023.11:g.(?_18564457)_(18581970_?)del
NC_000023.11:g.(?_18595328)_(18595448_?)del
NC_000023.11:g.(?_18628351)_(18628607_?)del
NC_000023.11:g.18598477_18598478insTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTACTGAAGTTGG
NM_001323289.2(CDKL5):c.100-2A>G rs267608423
NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter) rs1057518203
NM_001323289.2(CDKL5):c.100G>T (p.Glu34Ter)
NM_001323289.2(CDKL5):c.1011dup (p.His338fs) rs2147160162
NM_001323289.2(CDKL5):c.1053_1056dup (p.Leu353fs) rs2147160237
NM_001323289.2(CDKL5):c.1066dup (p.Ala356fs) rs2147160283
NM_001323289.2(CDKL5):c.106_107del (p.Thr35_His36insTer) rs2147132223
NM_001323289.2(CDKL5):c.1166_1169del (p.Gln389fs)
NM_001323289.2(CDKL5):c.1180_1181dup (p.Ser394fs)
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1208del (p.Pro403fs)
NM_001323289.2(CDKL5):c.1246G>T (p.Glu416Ter) rs1555951991
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.1287dup (p.Gly430fs)
NM_001323289.2(CDKL5):c.1321C>T (p.Gln441Ter)
NM_001323289.2(CDKL5):c.1330_1342del (p.Arg444fs)
NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter) rs786204969
NM_001323289.2(CDKL5):c.1446del (p.Ser481_Tyr482insTer) rs2147160749
NM_001323289.2(CDKL5):c.1452del (p.Lys485fs)
NM_001323289.2(CDKL5):c.1485dup (p.Lys496fs) rs1926283743
NM_001323289.2(CDKL5):c.1506dup (p.Glu503Ter)
NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_001323289.2(CDKL5):c.154G>T (p.Glu52Ter) rs1925261282
NM_001323289.2(CDKL5):c.1584dup (p.Ser529fs) rs2147160886
NM_001323289.2(CDKL5):c.163G>T (p.Glu55Ter)
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.1686del (p.Arg563fs) rs2147161009
NM_001323289.2(CDKL5):c.173_174insGGCCCGGCGCGGTGGCTCACGCCTGTAATACCAGCACTTATGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACGACTTT (p.Leu58_Arg59insAlaArgArgGlyGlySerArgLeuTer)
NM_001323289.2(CDKL5):c.1741del (p.His581fs)
NM_001323289.2(CDKL5):c.1755_1756del (p.Ser586fs) rs1926298521
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.1790del (p.Gly597fs)
NM_001323289.2(CDKL5):c.1883del (p.Ser628fs) rs1926305134
NM_001323289.2(CDKL5):c.1896del (p.Gln633fs) rs2147161299
NM_001323289.2(CDKL5):c.1927C>T (p.Gln643Ter) rs2147161353
NM_001323289.2(CDKL5):c.194G>C (p.Arg65Pro) rs267608436
NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs) rs2147164191
NM_001323289.2(CDKL5):c.2009_2012dup (p.Thr672fs)
NM_001323289.2(CDKL5):c.200_201del (p.Leu67fs) rs1555949011
NM_001323289.2(CDKL5):c.2022del (p.Phe675fs) rs1060501860
NM_001323289.2(CDKL5):c.2026del (p.His676fs) rs1926450614
NM_001323289.2(CDKL5):c.2046+1G>A rs786204976
NM_001323289.2(CDKL5):c.2047-1G>A rs267608650
NM_001323289.2(CDKL5):c.2072_2073del (p.His690_Ser691insTer) rs2147164676
NM_001323289.2(CDKL5):c.2091del (p.Glu699fs)
NM_001323289.2(CDKL5):c.2142del (p.Tyr716fs) rs1569220925
NM_001323289.2(CDKL5):c.2152+1G>T
NM_001323289.2(CDKL5):c.2152+2T>G
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.217G>A (p.Val73Met) rs2147139605
NM_001323289.2(CDKL5):c.2197_2204dup (p.Arg735fs) rs1926617807
NM_001323289.2(CDKL5):c.2201_2204dup (p.Arg735delinsSerTer) rs2147167570
NM_001323289.2(CDKL5):c.2227_2228del (p.Ser743fs) rs2147167604
NM_001323289.2(CDKL5):c.2247_2250dup (p.Lys751fs)
NM_001323289.2(CDKL5):c.2255_2259dup (p.Pro754fs)
NM_001323289.2(CDKL5):c.2256_2263del (p.Arg752fs) rs1926620965
NM_001323289.2(CDKL5):c.2276+1G>T
NM_001323289.2(CDKL5):c.2277G>A (p.Trp759Ter)
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.2326_2327del (p.Lys776fs) rs1602295727
NM_001323289.2(CDKL5):c.2343del (p.Arg781fs) rs62643614
NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter) rs1555954074
NM_001323289.2(CDKL5):c.2345C>G (p.Ser782Ter) rs1555954074
NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs) rs587783123
NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter) rs1926838663
NM_001323289.2(CDKL5):c.2374dup (p.Thr792fs) rs1602295779
NM_001323289.2(CDKL5):c.2376+2T>A
NM_001323289.2(CDKL5):c.2398del (p.Asp800fs)
NM_001323289.2(CDKL5):c.244del (p.Arg82fs) rs1555949041
NM_001323289.2(CDKL5):c.2463del (p.Trp821fs) rs2147175902
NM_001323289.2(CDKL5):c.2464del (p.Arg822fs)
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter) rs1602298653
NM_001323289.2(CDKL5):c.2529dup (p.His844fs)
NM_001323289.2(CDKL5):c.2579_2582dup (p.Leu862fs) rs2147178955
NM_001323289.2(CDKL5):c.258C>A (p.Tyr86Ter)
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_001323289.2(CDKL5):c.2606del (p.Asn869fs) rs2147178971
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2682_2683insGGAA (p.Pro895fs) rs1569225454
NM_001323289.2(CDKL5):c.2682dup (p.Pro895fs) rs1569225454
NM_001323289.2(CDKL5):c.2693_2694del (p.Arg898fs) rs2147179071
NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter) rs1602300816
NM_001323289.2(CDKL5):c.282+1G>A rs1569213054
NM_001323289.2(CDKL5):c.282+1G>T rs1569213054
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs) rs1602300837
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro) rs1925418549
NM_001323289.2(CDKL5):c.308del (p.Met103fs) rs2147142599
NM_001323289.2(CDKL5):c.372_385del (p.His124fs)
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser) rs1922605766
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter) rs267608472
NM_001323289.2(CDKL5):c.404-2A>G rs587783080
NM_001323289.2(CDKL5):c.404-6C>G
NM_001323289.2(CDKL5):c.412C>G (p.Pro138Ala) rs1925492354
NM_001323289.2(CDKL5):c.416A>C (p.Glu139Ala)
NM_001323289.2(CDKL5):c.424T>G (p.Leu142Val) rs1925493252
NM_001323289.2(CDKL5):c.450del (p.Lys150fs) rs2147144049
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_001323289.2(CDKL5):c.463+1G>A rs267608479
NM_001323289.2(CDKL5):c.463G>A (p.Gly155Ser)
NM_001323289.2(CDKL5):c.464-2A>C rs267608480
NM_001323289.2(CDKL5):c.464-3C>G
NM_001323289.2(CDKL5):c.469G>C (p.Ala157Pro) rs2147145500
NM_001323289.2(CDKL5):c.46del (p.Val18fs)
NM_001323289.2(CDKL5):c.503dup (p.Tyr168Ter)
NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs) rs786204987
NM_001323289.2(CDKL5):c.508G>T (p.Glu170Ter) rs1555950066
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.513C>G (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.515T>G (p.Val172Gly)
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter) rs2147145565
NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys) rs786204989
NM_001323289.2(CDKL5):c.532C>G (p.Arg178Gly) rs267608493
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.533G>T (p.Arg178Leu)
NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp) rs1602230515
NM_001323289.2(CDKL5):c.549_552del (p.Leu184fs) rs587783111
NM_001323289.2(CDKL5):c.554+4A>G rs2147145614
NM_001323289.2(CDKL5):c.554+5G>A rs1925577525
NM_001323289.2(CDKL5):c.578A>C (p.Asp193Ala) rs267608500
NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly) rs1569215594
NM_001323289.2(CDKL5):c.585G>A (p.Trp195Ter) rs2147147996
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg) rs267608418
NM_001323289.2(CDKL5):c.593G>A (p.Gly198Asp) rs1925696959
NM_001323289.2(CDKL5):c.604G>T (p.Gly202Trp) rs2147148032
NM_001323289.2(CDKL5):c.609G>C (p.Glu203Asp)
NM_001323289.2(CDKL5):c.614_617dup (p.Asp206fs) rs1555950465
NM_001323289.2(CDKL5):c.61G>A (p.Glu21Lys)
NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu) rs1569215629
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_001323289.2(CDKL5):c.692del (p.Pro231fs)
NM_001323289.2(CDKL5):c.712_713dup (p.Tyr239fs)
NM_001323289.2(CDKL5):c.725del (p.Pro242fs) rs1555950494
NM_001323289.2(CDKL5):c.744+1G>A rs1925705674
NM_001323289.2(CDKL5):c.749del (p.Pro250fs) rs2147153531
NM_001323289.2(CDKL5):c.74G>T (p.Gly25Val)
NM_001323289.2(CDKL5):c.781dup (p.Arg261fs)
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter) rs1555951146
NM_001323289.2(CDKL5):c.812T>C (p.Leu271Pro)
NM_001323289.2(CDKL5):c.830T>C (p.Leu277Ser) rs2147156094
NM_001323289.2(CDKL5):c.844_856delinsA (p.Pro282_Tyr286delinsAsn) rs2147156107
NM_001323289.2(CDKL5):c.854G>A (p.Arg285Lys) rs1064795672
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter) rs1569218019
NM_001323289.2(CDKL5):c.877_881dup (p.His294fs) rs1926080344
NM_001323289.2(CDKL5):c.878dup (p.Asn293fs) rs1926080187
NM_001323289.2(CDKL5):c.934A>T (p.Lys312Ter)
NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)
NM_001323289.2(CDKL5):c.993_994dup (p.Ser332fs) rs2147160115

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