ClinVar Miner

List of variants in gene CDKL5 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 188
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HGVS dbSNP
GRCh37/hg19 Xp22.13(chrX:18442534-18529433)x0
GRCh37/hg19 Xp22.13(chrX:18597661-18600349)x1
NM_001323289.2(CDKL5):c.-163+10C>T rs1057520478
NM_001323289.2(CDKL5):c.-163+13G>A rs913326290
NM_001323289.2(CDKL5):c.-174G>A rs1555928752
NM_001323289.2(CDKL5):c.-18A>G rs1483246379
NM_001323289.2(CDKL5):c.-5T>A rs79219416
NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter) rs1057518203
NM_001323289.2(CDKL5):c.1007_1014del (p.Gln336fs) rs1064793381
NM_001323289.2(CDKL5):c.1019G>A (p.Arg340Lys) rs780119476
NM_001323289.2(CDKL5):c.1051G>A (p.Val351Ile) rs587783150
NM_001323289.2(CDKL5):c.1060C>T (p.Pro354Ser) rs1064794591
NM_001323289.2(CDKL5):c.1064G>A (p.Arg355Gln) rs189400843
NM_001323289.2(CDKL5):c.1098C>T (p.Phe366=) rs777079786
NM_001323289.2(CDKL5):c.1122T>A (p.Ala374=) rs141452495
NM_001323289.2(CDKL5):c.113T>G (p.Ile38Ser) rs1555947847
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_001323289.2(CDKL5):c.1211_1212dup (p.Leu405fs) rs1555951981
NM_001323289.2(CDKL5):c.121A>T (p.Ile41Phe) rs587783071
NM_001323289.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620
NM_001323289.2(CDKL5):c.1324C>T (p.Gln442Ter) rs587783151
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419
NM_001323289.2(CDKL5):c.1345_1363del (p.Glu449fs) rs587783113
NM_001323289.2(CDKL5):c.1354C>T (p.Gln452Ter) rs1602286285
NM_001323289.2(CDKL5):c.13A>G (p.Asn5Asp) rs767844474
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.145+17A>G rs199814742
NM_001323289.2(CDKL5):c.145+6T>G rs753819165
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.146-19A>G rs1057523365
NM_001323289.2(CDKL5):c.1471G>A (p.Ala491Thr) rs1555952046
NM_001323289.2(CDKL5):c.1500C>A (p.Asn500Lys) rs587783152
NM_001323289.2(CDKL5):c.1526C>T (p.Ala509Val) rs779325312
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=) rs369561849
NM_001323289.2(CDKL5):c.1546del (p.Tyr516fs) rs1555952063
NM_001323289.2(CDKL5):c.1548C>T (p.Tyr516=) rs751789670
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.1670C>G (p.Ser557Ter) rs587783145
NM_001323289.2(CDKL5):c.1671dup (p.Arg558fs) rs587783115
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804
NM_001323289.2(CDKL5):c.1730T>C (p.Met577Thr) rs749822712
NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys) rs372629988
NM_001323289.2(CDKL5):c.1776_1777del (p.Ser593fs) rs1064793376
NM_001323289.2(CDKL5):c.1777del (p.Ser593fs) rs1064793376
NM_001323289.2(CDKL5):c.1795A>G (p.Thr599Ala) rs761662406
NM_001323289.2(CDKL5):c.1795dup (p.Thr599fs) rs587783116
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154
NM_001323289.2(CDKL5):c.1885_1886dup (p.Leu629fs) rs587783117
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_001323289.2(CDKL5):c.1909del (p.Ala637fs) rs587783118
NM_001323289.2(CDKL5):c.192T>G (p.Leu64=) rs145496868
NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe) rs1057524785
NM_001323289.2(CDKL5):c.1942_1944+2delinsA rs1555952163
NM_001323289.2(CDKL5):c.1944+2T>G rs587783155
NM_001323289.2(CDKL5):c.1944+6G>A rs1602287049
NM_001323289.2(CDKL5):c.1945-5T>C rs1064796245
NM_001323289.2(CDKL5):c.2038A>T (p.Lys680Ter) rs1569220754
NM_001323289.2(CDKL5):c.2046+16A>G rs1157430431
NM_001323289.2(CDKL5):c.2046+3A>G rs751000827
NM_001323289.2(CDKL5):c.2069A>G (p.His690Arg) rs945311782
NM_001323289.2(CDKL5):c.2086G>A (p.Ala696Thr) rs374518046
NM_001323289.2(CDKL5):c.2095G>T (p.Glu699Ter) rs886041673
NM_001323289.2(CDKL5):c.2106C>T (p.His702=) rs1057520416
NM_001323289.2(CDKL5):c.2107C>G (p.Leu703Val) rs776965205
NM_001323289.2(CDKL5):c.2109A>T (p.Leu703=) rs761789190
NM_001323289.2(CDKL5):c.211A>G (p.Asn71Asp) rs587783072
NM_001323289.2(CDKL5):c.2148_2149del (p.Tyr716_Arg717delinsTer) rs587783119
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606
NM_001323289.2(CDKL5):c.2152+172C>A rs79558557
NM_001323289.2(CDKL5):c.2152+195G>A rs373744056
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_001323289.2(CDKL5):c.2205_2206del (p.Arg735fs) rs587783120
NM_001323289.2(CDKL5):c.220G>T (p.Glu74Ter) rs587783073
NM_001323289.2(CDKL5):c.2231_2265del (p.Ser744fs) rs1064796503
NM_001323289.2(CDKL5):c.2254dup (p.Arg752fs) rs587783121
NM_001323289.2(CDKL5):c.2276+9T>G rs1555953298
NM_001323289.2(CDKL5):c.2277-4T>C rs1064794369
NM_001323289.2(CDKL5):c.2305G>T (p.Glu769Ter) rs886041872
NM_001323289.2(CDKL5):c.2323_2326del (p.Glu775fs) rs267608654
NM_001323289.2(CDKL5):c.234_238dup (p.Arg80fs) rs1555949033
NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs) rs587783123
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_001323289.2(CDKL5):c.2374dup (p.Thr792fs) rs1602295779
NM_001323289.2(CDKL5):c.2376+118T>A rs3752484
NM_001323289.2(CDKL5):c.2376+158A>G rs144309559
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144
NM_001323289.2(CDKL5):c.2469del (p.Glu824fs) rs587783124
NM_001323289.2(CDKL5):c.248del (p.Gly83fs) rs587783109
NM_001323289.2(CDKL5):c.2496+3G>A rs1057523074
NM_001323289.2(CDKL5):c.2497-10T>G rs1057522389
NM_001323289.2(CDKL5):c.250A>T (p.Lys84Ter) rs587783074
NM_001323289.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177
NM_001323289.2(CDKL5):c.2522dup (p.Leu842fs) rs886042014
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu) rs1064795982
NM_001323289.2(CDKL5):c.2549del (p.Asn850fs) rs587783125
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156
NM_001323289.2(CDKL5):c.2572C>T (p.Arg858Cys) rs773760466
NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His) rs759083770
NM_001323289.2(CDKL5):c.258C>G (p.Tyr86Ter) rs1085307470
NM_001323289.2(CDKL5):c.2593_2616delinsG (p.Gln865fs) rs1555955237
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_001323289.2(CDKL5):c.2608dup (p.Ser870fs) rs587783126
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2671C>T (p.Gln891Ter) rs587783159
NM_001323289.2(CDKL5):c.2679C>T (p.Pro893=) rs777919249
NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr) rs763110247
NM_001323289.2(CDKL5):c.2733G>A (p.Trp911Ter) rs1555955268
NM_001323289.2(CDKL5):c.282+2T>G rs587783075
NM_001323289.2(CDKL5):c.282+4del rs587783110
NM_001323289.2(CDKL5):c.283-12T>C rs188879559
NM_001323289.2(CDKL5):c.283-13A>G rs587783404
NM_001323289.2(CDKL5):c.283-99C>A rs4825261
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755
NM_001323289.2(CDKL5):c.351T>A (p.Tyr117Ter) rs587783077
NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter) rs267608453
NM_001323289.2(CDKL5):c.356T>G (p.Leu119Arg) rs587783078
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.383del (p.Lys128fs) rs1602271715
NM_001323289.2(CDKL5):c.393T>G (p.Ile131Met) rs1085307934
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter) rs267608472
NM_001323289.2(CDKL5):c.403G>C (p.Asp135His) rs1064794919
NM_001323289.2(CDKL5):c.404-16del rs748656624
NM_001323289.2(CDKL5):c.404-2A>G rs587783080
NM_001323289.2(CDKL5):c.404-3C>A rs587783079
NM_001323289.2(CDKL5):c.404-9A>G rs1037467164
NM_001323289.2(CDKL5):c.413C>T (p.Pro138Leu) rs587783081
NM_001323289.2(CDKL5):c.419A>G (p.Asn140Ser) rs1057524663
NM_001323289.2(CDKL5):c.427dup (p.Ile143fs) rs1555949752
NM_001323289.2(CDKL5):c.449A>G (p.Lys150Arg) rs587783083
NM_001323289.2(CDKL5):c.462T>C (p.Phe154=) rs898874642
NM_001323289.2(CDKL5):c.463+269_463+273del rs766847265
NM_001323289.2(CDKL5):c.480G>A (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.524G>T (p.Arg175Ile) rs1064794734
NM_001323289.2(CDKL5):c.526T>A (p.Trp176Arg) 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.542A>C (p.Glu181Ala) rs587783085
NM_001323289.2(CDKL5):c.549_552del (p.Leu184fs) rs587783111
NM_001323289.2(CDKL5):c.555-2A>G rs1555950455
NM_001323289.2(CDKL5):c.577G>A (p.Asp193Asn) rs587783086
NM_001323289.2(CDKL5):c.590T>G (p.Val197Gly) rs1057521806
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.626C>G (p.Pro209Arg) rs587783088
NM_001323289.2(CDKL5):c.629del (p.Leu210fs) rs1555950470
NM_001323289.2(CDKL5):c.65-13C>T rs532222548
NM_001323289.2(CDKL5):c.65-1G>A rs1555940533
NM_001323289.2(CDKL5):c.663dup (p.Thr222fs) rs1602276166
NM_001323289.2(CDKL5):c.681A>G (p.Leu227=) rs1057522628
NM_001323289.2(CDKL5):c.693del (p.Ser232fs) rs886041764
NM_001323289.2(CDKL5):c.697G>T (p.Glu233Ter) rs1569215664
NM_001323289.2(CDKL5):c.700C>T (p.Gln234Ter) rs587783089
NM_001323289.2(CDKL5):c.73G>A (p.Gly25Arg) rs587783130
NM_001323289.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_001323289.2(CDKL5):c.747T>C (p.Phe249=) rs1249923057
NM_001323289.2(CDKL5):c.766C>T (p.Gln256Ter) rs1555951142
NM_001323289.2(CDKL5):c.768dup (p.Ser257fs) rs1131691926
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter) rs1555951146
NM_001323289.2(CDKL5):c.808dup (p.Leu270fs) rs587783112
NM_001323289.2(CDKL5):c.825+180G>A rs369394603
NM_001323289.2(CDKL5):c.825+5G>A rs1555951149
NM_001323289.2(CDKL5):c.826-1G>C rs587783149
NM_001323289.2(CDKL5):c.846A>G (p.Pro282=) rs773523708
NM_001323289.2(CDKL5):c.854G>A (p.Arg285Lys) rs1064795672
NM_001323289.2(CDKL5):c.858C>A (p.Tyr286Ter) rs766511365
NM_001323289.2(CDKL5):c.871T>C (p.Cys291Arg) rs1131691376
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala) rs751995225
NM_001323289.2(CDKL5):c.907_908insCC (p.Leu303fs) rs1602282705
NM_001323289.2(CDKL5):c.913C>T (p.Arg305Cys) rs1064794671
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_001323289.2(CDKL5):c.950A>G (p.His317Arg) rs756537286
NM_001323289.2(CDKL5):c.967T>C (p.Leu323=) rs527360143
NM_001323289.2(CDKL5):c.99+5G>A rs587783131

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