ClinVar Miner

List of variants in gene CDKL5 reported as uncertain significance for infancy electroclinical syndrome

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156 0.00012
NM_001323289.2(CDKL5):c.283-13A>G rs587783404 0.00011
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755 0.00005
NM_001323289.2(CDKL5):c.1116T>A (p.Ala372=) rs148302590 0.00004
NM_001323289.2(CDKL5):c.2567A>T (p.Asp856Val) rs770426025 0.00004
NM_001323289.2(CDKL5):c.1027A>G (p.Ser343Gly) rs371313385 0.00003
NM_001323289.2(CDKL5):c.1396C>T (p.Arg466Trp) rs1310879766 0.00002
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr) rs1356745875 0.00002
NM_001323289.2(CDKL5):c.1673G>A (p.Arg558His) rs763991639 0.00002
NM_001323289.2(CDKL5):c.238C>T (p.Arg80Cys) rs1466254546 0.00002
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met) rs1005844306 0.00002
NM_001323289.2(CDKL5):c.2464C>T (p.Arg822Cys) rs780609419 0.00002
NM_001323289.2(CDKL5):c.2502G>T (p.Gln834His) rs1334119558 0.00002
NM_001323289.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177 0.00002
NM_001323289.2(CDKL5):c.2714G>A (p.Gly905Asp) rs1475195158 0.00002
NM_001323289.2(CDKL5):c.844C>G (p.Pro282Ala) rs1926077779 0.00002
NM_001323289.2(CDKL5):c.1051G>A (p.Val351Ile) rs587783150 0.00001
NM_001323289.2(CDKL5):c.1076G>C (p.Gly359Ala) rs1207429249 0.00001
NM_001323289.2(CDKL5):c.1094G>A (p.Ser365Asn) rs1279388510 0.00001
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611 0.00001
NM_001323289.2(CDKL5):c.1230A>C (p.Glu410Asp) rs762247736 0.00001
NM_001323289.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766 0.00001
NM_001323289.2(CDKL5):c.1337C>T (p.Ser446Leu) rs1926273872 0.00001
NM_001323289.2(CDKL5):c.1397G>A (p.Arg466Gln) rs748907380 0.00001
NM_001323289.2(CDKL5):c.13A>G (p.Asn5Asp) rs767844474 0.00001
NM_001323289.2(CDKL5):c.1600A>G (p.Arg534Gly) rs749639424 0.00001
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln) rs1926294168 0.00001
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400 0.00001
NM_001323289.2(CDKL5):c.1909G>C (p.Ala637Pro) rs1330464637 0.00001
NM_001323289.2(CDKL5):c.2014A>T (p.Thr672Ser) rs1926449880 0.00001
NM_001323289.2(CDKL5):c.2107C>G (p.Leu703Val) rs776965205 0.00001
NM_001323289.2(CDKL5):c.2318A>G (p.Glu773Gly) rs1218990219 0.00001
NM_001323289.2(CDKL5):c.2377G>A (p.Val793Ile) rs754699773 0.00001
NM_001323289.2(CDKL5):c.2444G>T (p.Ser815Ile) rs1449425691 0.00001
NM_001323289.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459 0.00001
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694 0.00001
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu) rs587783157 0.00001
NM_001323289.2(CDKL5):c.375G>C (p.Trp125Cys) rs372825651 0.00001
NM_001323289.2(CDKL5):c.403+5G>A rs1342864362 0.00001
NM_001323289.2(CDKL5):c.473G>A (p.Arg158His) rs757402424 0.00001
NM_001323289.2(CDKL5):c.556G>A (p.Ala186Thr) rs765304446 0.00001
NM_001323289.2(CDKL5):c.743G>A (p.Arg248Gln) rs1064795857 0.00001
NM_001323289.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908 0.00001
NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547 0.00001
NM_001323289.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244 0.00001
NC_000023.10:g.(?_18525053)_(18616753_?)dup
NC_000023.10:g.(?_18525053)_(18623008_?)dup
NC_000023.10:g.(?_18525055)_(18528974_?)dup
NC_000023.10:g.(?_18599991)_(18600090_?)dup
NM_001323289.2(CDKL5):c.100-3C>G rs2147132216
NM_001323289.2(CDKL5):c.1012C>T (p.His338Tyr)
NM_001323289.2(CDKL5):c.1033G>A (p.Asp345Asn)
NM_001323289.2(CDKL5):c.103A>C (p.Thr35Pro) rs1924898828
NM_001323289.2(CDKL5):c.103A>G (p.Thr35Ala)
NM_001323289.2(CDKL5):c.1049G>A (p.Ser350Asn)
NM_001323289.2(CDKL5):c.1102A>G (p.Asn368Asp)
NM_001323289.2(CDKL5):c.1166A>T (p.Gln389Leu)
NM_001323289.2(CDKL5):c.1188T>A (p.Asp396Glu)
NM_001323289.2(CDKL5):c.1196A>G (p.Asn399Ser) rs267608611
NM_001323289.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_001323289.2(CDKL5):c.1230A>T (p.Glu410Asp)
NM_001323289.2(CDKL5):c.1273C>T (p.Pro425Ser) rs1926271094
NM_001323289.2(CDKL5):c.1288G>A (p.Gly430Arg)
NM_001323289.2(CDKL5):c.1291A>G (p.Thr431Ala)
NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn) rs1555951997
NM_001323289.2(CDKL5):c.1297T>C (p.Tyr433His)
NM_001323289.2(CDKL5):c.1314C>A (p.Ser438Arg)
NM_001323289.2(CDKL5):c.1328A>T (p.Asn443Ile)
NM_001323289.2(CDKL5):c.1344G>A (p.Met448Ile) rs1555952013
NM_001323289.2(CDKL5):c.135G>T (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_001323289.2(CDKL5):c.1404C>G (p.Ser468Arg) rs1926278693
NM_001323289.2(CDKL5):c.1463G>C (p.Ser488Thr)
NM_001323289.2(CDKL5):c.1477A>T (p.Ser493Cys) rs2147160801
NM_001323289.2(CDKL5):c.1540A>G (p.Ser514Gly)
NM_001323289.2(CDKL5):c.1552C>T (p.Pro518Ser)
NM_001323289.2(CDKL5):c.1592C>T (p.Thr531Ile)
NM_001323289.2(CDKL5):c.1602A>C (p.Arg534Ser) rs1385183228
NM_001323289.2(CDKL5):c.1613C>A (p.Thr538Lys)
NM_001323289.2(CDKL5):c.1657G>A (p.Gly553Arg)
NM_001323289.2(CDKL5):c.1667A>G (p.Asp556Gly) rs2147160978
NM_001323289.2(CDKL5):c.1689A>T (p.Arg563Ser) rs2147161018
NM_001323289.2(CDKL5):c.16A>G (p.Ile6Val)
NM_001323289.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_001323289.2(CDKL5):c.1745C>T (p.Ser582Phe) rs1378912528
NM_001323289.2(CDKL5):c.1766A>G (p.His589Arg) rs2147161126
NM_001323289.2(CDKL5):c.178G>C (p.Glu60Gln) rs1925262394
NM_001323289.2(CDKL5):c.1799G>T (p.Ser600Ile) rs2147161196
NM_001323289.2(CDKL5):c.179A>G (p.Glu60Gly)
NM_001323289.2(CDKL5):c.17T>C (p.Ile6Thr)
NM_001323289.2(CDKL5):c.1803C>G (p.Pro601=)
NM_001323289.2(CDKL5):c.1837A>G (p.Met613Val)
NM_001323289.2(CDKL5):c.1874T>G (p.Leu625Trp)
NM_001323289.2(CDKL5):c.1883G>A (p.Ser628Asn) rs2147161274
NM_001323289.2(CDKL5):c.1888A>C (p.Ser630Arg)
NM_001323289.2(CDKL5):c.1891A>G (p.Ile631Val) rs1569219817
NM_001323289.2(CDKL5):c.1922G>T (p.Ser641Ile) rs1602287027
NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe) rs1057524785
NM_001323289.2(CDKL5):c.1948G>A (p.Gly650Arg) rs1602289171
NM_001323289.2(CDKL5):c.1961C>T (p.Pro654Leu)
NM_001323289.2(CDKL5):c.1982G>T (p.Arg661Ile)
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=) rs1602289218
NM_001323289.2(CDKL5):c.2048G>A (p.Gly683Asp)
NM_001323289.2(CDKL5):c.2057A>T (p.Tyr686Phe) rs2047709269
NM_001323289.2(CDKL5):c.2066C>T (p.Pro689Leu) rs1326292288
NM_001323289.2(CDKL5):c.206A>C (p.Gln69Pro)
NM_001323289.2(CDKL5):c.2070C>G (p.His690Gln) rs2147164673
NM_001323289.2(CDKL5):c.2074G>A (p.Asp692Asn) rs2147164679
NM_001323289.2(CDKL5):c.2083A>G (p.Thr695Ala)
NM_001323289.2(CDKL5):c.2099A>G (p.Asn700Ser)
NM_001323289.2(CDKL5):c.2129G>A (p.Arg710Lys)
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser) rs1925264314
NM_001323289.2(CDKL5):c.2152+5G>T rs1926476615
NM_001323289.2(CDKL5):c.2153-64_2153-5delinsG rs1926607521
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
NM_001323289.2(CDKL5):c.216T>G (p.Ile72Met)
NM_001323289.2(CDKL5):c.2171A>G (p.Asp724Gly)
NM_001323289.2(CDKL5):c.2171A>T (p.Asp724Val) rs1926616572
NM_001323289.2(CDKL5):c.2195T>A (p.Val732Glu) rs1926617510
NM_001323289.2(CDKL5):c.2213_2215del (p.Ser738del) rs1926618813
NM_001323289.2(CDKL5):c.2219C>T (p.Pro740Leu) rs2147167595
NM_001323289.2(CDKL5):c.2236G>A (p.Gly746Arg) rs1926619731
NM_001323289.2(CDKL5):c.2296A>T (p.Ser766Cys)
NM_001323289.2(CDKL5):c.2307_2309dup (p.Gln770dup) rs1555954068
NM_001323289.2(CDKL5):c.2332G>A (p.Gly778Arg)
NM_001323289.2(CDKL5):c.2354A>C (p.Lys785Thr)
NM_001323289.2(CDKL5):c.236T>C (p.Phe79Ser) rs2147139630
NM_001323289.2(CDKL5):c.2371C>G (p.Gln791Glu)
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
NM_001323289.2(CDKL5):c.2376+4dup rs34335533
NM_001323289.2(CDKL5):c.2376+9A>G
NM_001323289.2(CDKL5):c.2384A>C (p.Asn795Thr) rs863225067
NM_001323289.2(CDKL5):c.2387C>G (p.Ser796Cys)
NM_001323289.2(CDKL5):c.2393G>A (p.Ser798Asn)
NM_001323289.2(CDKL5):c.239G>A (p.Arg80His) rs776025230
NM_001323289.2(CDKL5):c.241C>G (p.Arg81Gly) rs1925266779
NM_001323289.2(CDKL5):c.2422A>G (p.Ile808Val)
NM_001323289.2(CDKL5):c.2437A>G (p.Thr813Ala) rs1927002061
NM_001323289.2(CDKL5):c.2479T>C (p.Ser827Pro)
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2530C>A (p.His844Asn)
NM_001323289.2(CDKL5):c.2545T>G (p.Ser849Ala)
NM_001323289.2(CDKL5):c.2548A>G (p.Asn850Asp)
NM_001323289.2(CDKL5):c.2551C>A (p.His851Asn)
NM_001323289.2(CDKL5):c.2555C>G (p.Pro852Arg) rs587783156
NM_001323289.2(CDKL5):c.2570C>G (p.Pro857Arg)
NM_001323289.2(CDKL5):c.2611T>G (p.Phe871Val) rs2147178975
NM_001323289.2(CDKL5):c.2680G>C (p.Ala894Pro) rs763110247
NM_001323289.2(CDKL5):c.2680G>T (p.Ala894Ser)
NM_001323289.2(CDKL5):c.2683C>A (p.Pro895Thr)
NM_001323289.2(CDKL5):c.2695C>G (p.Pro899Ala)
NM_001323289.2(CDKL5):c.26T>C (p.Val9Ala) rs1569197962
NM_001323289.2(CDKL5):c.2704C>A (p.Gln902Lys)
NM_001323289.2(CDKL5):c.2713G>A (p.Gly905Ser)
NM_001323289.2(CDKL5):c.274G>C (p.Val92Leu) rs2147139679
NM_001323289.2(CDKL5):c.282+3A>G
NM_001323289.2(CDKL5):c.282+5G>A rs1925269123
NM_001323289.2(CDKL5):c.282+5G>C
NM_001323289.2(CDKL5):c.283-8A>G
NM_001323289.2(CDKL5):c.2883A>T (p.Ter961Tyr)
NM_001323289.2(CDKL5):c.317G>A (p.Gly106Glu)
NM_001323289.2(CDKL5):c.362A>G (p.Lys121Arg) rs2147142685
NM_001323289.2(CDKL5):c.376T>G (p.Cys126Gly)
NM_001323289.2(CDKL5):c.377G>C (p.Cys126Ser) rs1925423604
NM_001323289.2(CDKL5):c.378C>G (p.Cys126Trp) rs1569213910
NM_001323289.2(CDKL5):c.37T>A (p.Phe13Ile) rs2147092100
NM_001323289.2(CDKL5):c.388_390del (p.Asp130del)
NM_001323289.2(CDKL5):c.398A>C (p.His133Pro) rs1925424843
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val) rs1569214316
NM_001323289.2(CDKL5):c.407T>G (p.Ile136Arg)
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro) rs1925493091
NM_001323289.2(CDKL5):c.436A>C (p.Asn146His) rs2147144038
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp) rs2147144038
NM_001323289.2(CDKL5):c.440A>T (p.Asp147Val)
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001323289.2(CDKL5):c.460T>C (p.Phe154Leu) rs2147144071
NM_001323289.2(CDKL5):c.46C>G (p.Leu16Val)
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.574G>A (p.Val192Met) rs998686458
NM_001323289.2(CDKL5):c.601_603del (p.Leu201del) rs2147148016
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_001323289.2(CDKL5):c.64+3A>G
NM_001323289.2(CDKL5):c.64+4A>G
NM_001323289.2(CDKL5):c.656A>G (p.Gln219Arg)
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.678G>A (p.Val226=)
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_001323289.2(CDKL5):c.680T>C (p.Leu227Pro) rs267608515
NM_001323289.2(CDKL5):c.719G>T (p.Ser240Ile)
NM_001323289.2(CDKL5):c.728G>A (p.Arg243His)
NM_001323289.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_001323289.2(CDKL5):c.745-3C>G rs2147153520
NM_001323289.2(CDKL5):c.745-3C>T
NM_001323289.2(CDKL5):c.767A>G (p.Gln256Arg)
NM_001323289.2(CDKL5):c.794T>C (p.Ile265Thr) rs1925958833
NM_001323289.2(CDKL5):c.800A>G (p.Asn267Ser) rs794726990
NM_001323289.2(CDKL5):c.803G>A (p.Ser268Asn) rs1925959502
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001323289.2(CDKL5):c.825+5G>A rs1555951149
NM_001323289.2(CDKL5):c.827A>G (p.Asn276Ser)
NM_001323289.2(CDKL5):c.844_855del (p.Pro282_Arg285del) rs2147156103
NM_001323289.2(CDKL5):c.856T>A (p.Tyr286Asn) rs2147156130
NM_001323289.2(CDKL5):c.863C>G (p.Thr288Arg)
NM_001323289.2(CDKL5):c.86A>C (p.Lys29Thr)
NM_001323289.2(CDKL5):c.871T>C (p.Cys291Arg) rs1131691376
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.887C>A (p.Thr296Lys)
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001323289.2(CDKL5):c.934A>G (p.Lys312Glu) rs1569218064
NM_001323289.2(CDKL5):c.951T>A (p.His317Gln)
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_001323289.2(CDKL5):c.99+9A>G rs1602233003

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