ClinVar Miner

List of variants in gene CDKL5 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_001323289.2(CDKL5):c.1064G>A (p.Arg355Gln) rs189400843 0.00006
NM_001323289.2(CDKL5):c.1019G>A (p.Arg340Lys) rs780119476 0.00005
NM_001323289.2(CDKL5):c.1060C>T (p.Pro354Ser) rs1064794591 0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=) rs727503846 0.00005
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144 0.00005
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571 0.00004
NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His) rs759083770 0.00004
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_001323289.2(CDKL5):c.282+19A>G rs781452978 0.00003
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr) rs1356745875 0.00002
NM_001323289.2(CDKL5):c.2277-4T>C rs1064794369 0.00002
NM_001323289.2(CDKL5):c.238C>T (p.Arg80Cys) rs1466254546 0.00002
NM_001323289.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177 0.00002
NM_001323289.2(CDKL5):c.2572C>T (p.Arg858Cys) rs773760466 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.1094G>A (p.Ser365Asn) rs1279388510 0.00001
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611 0.00001
NM_001323289.2(CDKL5):c.13A>G (p.Asn5Asp) rs767844474 0.00001
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln) rs1555949009 0.00001
NM_001323289.2(CDKL5):c.2069A>G (p.His690Arg) rs945311782 0.00001
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606 0.00001
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847 0.00001
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694 0.00001
NM_001323289.2(CDKL5):c.556G>A (p.Ala186Thr) rs765304446 0.00001
NM_001323289.2(CDKL5):c.913C>T (p.Arg305Cys) rs1064794671 0.00001
GRCh37/hg19 Xp22.13(chrX:18452033-18465282)x1
NM_001323289.2(CDKL5):c.1014C>G (p.His338Gln)
NM_001323289.2(CDKL5):c.107A>G (p.His36Arg)
NM_001323289.2(CDKL5):c.1102A>G (p.Asn368Asp)
NM_001323289.2(CDKL5):c.1118G>C (p.Gly373Ala)
NM_001323289.2(CDKL5):c.1144A>G (p.Lys382Glu)
NM_001323289.2(CDKL5):c.11C>G (p.Pro4Arg)
NM_001323289.2(CDKL5):c.126_128del (p.Lys43del) rs2147132248
NM_001323289.2(CDKL5):c.1288G>A (p.Gly430Arg)
NM_001323289.2(CDKL5):c.1300C>T (p.Leu434Phe)
NM_001323289.2(CDKL5):c.133A>G (p.Lys45Glu) rs2147132256
NM_001323289.2(CDKL5):c.1404C>G (p.Ser468Arg) rs1926278693
NM_001323289.2(CDKL5):c.1406A>C (p.Tyr469Ser)
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.1456G>A (p.Ala486Thr) rs867535910
NM_001323289.2(CDKL5):c.146-11T>G rs2147139512
NM_001323289.2(CDKL5):c.1463G>A (p.Ser488Asn) rs1602286432
NM_001323289.2(CDKL5):c.1500C>A (p.Asn500Lys) rs587783152
NM_001323289.2(CDKL5):c.1535G>A (p.Ser512Asn) rs1602286533
NM_001323289.2(CDKL5):c.1577C>T (p.Ser526Phe)
NM_001323289.2(CDKL5):c.1745C>T (p.Ser582Phe) rs1378912528
NM_001323289.2(CDKL5):c.178G>A (p.Glu60Lys) rs1925262394
NM_001323289.2(CDKL5):c.1795A>G (p.Thr599Ala) rs761662406
NM_001323289.2(CDKL5):c.1832A>G (p.His611Arg)
NM_001323289.2(CDKL5):c.1850G>A (p.Arg617His)
NM_001323289.2(CDKL5):c.1850G>T (p.Arg617Leu) rs2147161251
NM_001323289.2(CDKL5):c.1856A>G (p.Lys619Arg) rs1926304236
NM_001323289.2(CDKL5):c.1888A>C (p.Ser630Arg)
NM_001323289.2(CDKL5):c.1895G>A (p.Gly632Glu)
NM_001323289.2(CDKL5):c.1945-5T>C rs1064796245
NM_001323289.2(CDKL5):c.1952A>G (p.Glu651Gly)
NM_001323289.2(CDKL5):c.1969A>G (p.Met657Val)
NM_001323289.2(CDKL5):c.2011G>A (p.Gly671Ser)
NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=) rs1602289218
NM_001323289.2(CDKL5):c.2054T>G (p.Val685Gly)
NM_001323289.2(CDKL5):c.2060A>G (p.His687Arg)
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_001323289.2(CDKL5):c.2153-2A>G
NM_001323289.2(CDKL5):c.2165G>A (p.Arg722His) rs2147167525
NM_001323289.2(CDKL5):c.2236G>A (p.Gly746Arg) rs1926619731
NM_001323289.2(CDKL5):c.2277-13T>A rs1413641177
NM_001323289.2(CDKL5):c.2280A>G (p.Lys760=)
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
NM_001323289.2(CDKL5):c.2377-1178T>C
NM_001323289.2(CDKL5):c.239G>A (p.Arg80His) rs776025230
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_001323289.2(CDKL5):c.2518C>T (p.Arg840Cys)
NM_001323289.2(CDKL5):c.2522A>G (p.Lys841Arg)
NM_001323289.2(CDKL5):c.2533C>T (p.Leu845Phe)
NM_001323289.2(CDKL5):c.2683C>T (p.Pro895Ser)
NM_001323289.2(CDKL5):c.2696C>A (p.Pro899Gln) rs2147179076
NM_001323289.2(CDKL5):c.272A>G (p.Tyr91Cys) rs1064797360
NM_001323289.2(CDKL5):c.2782G>C (p.Glu928Gln)
NM_001323289.2(CDKL5):c.2787G>T (p.Gln929His)
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs) rs1602300837
NM_001323289.2(CDKL5):c.2822A>G (p.Tyr941Cys) rs1291397963
NM_001323289.2(CDKL5):c.29T>C (p.Met10Thr)
NM_001323289.2(CDKL5):c.322C>G (p.Pro108Ala)
NM_001323289.2(CDKL5):c.365C>T (p.Ala122Val)
NM_001323289.2(CDKL5):c.370C>T (p.His124Tyr)
NM_001323289.2(CDKL5):c.392T>C (p.Ile131Thr) rs2147142715
NM_001323289.2(CDKL5):c.403G>A (p.Asp135Asn) rs1064794919
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val) rs1569214316
NM_001323289.2(CDKL5):c.436A>C (p.Asn146His) rs2147144038
NM_001323289.2(CDKL5):c.458A>T (p.Asp153Val) rs786204985
NM_001323289.2(CDKL5):c.463+5G>T rs886042303
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.493A>G (p.Asn165Asp)
NM_001323289.2(CDKL5):c.496G>A (p.Ala166Thr) rs2147145524
NM_001323289.2(CDKL5):c.541G>A (p.Glu181Lys) rs794727912
NM_001323289.2(CDKL5):c.703A>G (p.Met235Val) rs1925703356
NM_001323289.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_001323289.2(CDKL5):c.781A>G (p.Arg261Gly) rs1555951145
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.825+5G>A rs1555951149
NM_001323289.2(CDKL5):c.852C>G (p.Asp284Glu)
NM_001323289.2(CDKL5):c.855A>T (p.Arg285Ser) rs267608532
NM_001323289.2(CDKL5):c.893A>G (p.Gln298Arg)
NM_001323289.2(CDKL5):c.941A>G (p.Lys314Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.