ClinVar Miner

List of variants in gene CDKL5 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_001323289.2(CDKL5):c.1108_1109dup (p.Asn370fs) rs886043742
NM_001323289.2(CDKL5):c.1111del (p.Ala372fs) rs1555951958
NM_001323289.2(CDKL5):c.1152C>G (p.Tyr384Ter) rs794727064
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.1365_1366insA (p.Gly456fs) rs886044424
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.145+17A>G rs199814742
NM_001323289.2(CDKL5):c.1553del (p.Pro518fs) rs886042899
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.1891_1916del (p.Ile631fs) rs794727063
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_001323289.2(CDKL5):c.212del (p.Asn71fs) rs886043296
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606
NM_001323289.2(CDKL5):c.2157A>T (p.Pro719=) rs200333632
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.2243A>G (p.Asn748Ser) rs748459878
NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=) rs727503846
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val) rs1569214316
NM_001323289.2(CDKL5):c.463+5G>T rs886042303
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001323289.2(CDKL5):c.541G>A (p.Glu181Lys) rs794727912
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001323289.2(CDKL5):c.555-19C>G rs75057928
NM_001323289.2(CDKL5):c.713del (p.Phe238fs) rs1555950486
NM_001323289.2(CDKL5):c.800A>G (p.Asn267Ser) rs794726990
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992

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.