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: 43
Download table as spreadsheet
HGVS dbSNP
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu) rs1064795982
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val) rs1569214316
NM_003159.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_003159.2(CDKL5):c.1019G>A (p.Arg340Lys) rs780119476
NM_003159.2(CDKL5):c.1051G>A (p.Val351Ile) rs587783150
NM_003159.2(CDKL5):c.1060C>T (p.Pro354Ser) rs1064794591
NM_003159.2(CDKL5):c.1064G>A (p.Arg355Gln) rs189400843
NM_003159.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_003159.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766
NM_003159.2(CDKL5):c.13A>G (p.Asn5Asp) rs767844474
NM_003159.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_003159.2(CDKL5):c.1456G>A (p.Ala486Thr) rs867535910
NM_003159.2(CDKL5):c.1500C>A (p.Asn500Lys) rs587783152
NM_003159.2(CDKL5):c.1795A>G (p.Thr599Ala) rs761662406
NM_003159.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.1945-5T>C rs1064796245
NM_003159.2(CDKL5):c.2069A>G (p.His690Arg) rs945311782
NM_003159.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_003159.2(CDKL5):c.2152+10C>G rs763466606
NM_003159.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_003159.2(CDKL5):c.2265A>T (p.Ala755=) rs727503846
NM_003159.2(CDKL5):c.2277-4T>C rs1064794369
NM_003159.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847
NM_003159.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144
NM_003159.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177
NM_003159.2(CDKL5):c.2572C>T (p.Arg858Cys) rs773760466
NM_003159.2(CDKL5):c.2573G>A (p.Arg858His) rs759083770
NM_003159.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_003159.2(CDKL5):c.272A>G (p.Tyr91Cys) rs1064797360
NM_003159.2(CDKL5):c.463+5G>T rs886042303
NM_003159.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_003159.2(CDKL5):c.541G>A (p.Glu181Lys) rs794727912
NM_003159.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_003159.2(CDKL5):c.781A>G (p.Arg261Gly) rs1555951145
NM_003159.2(CDKL5):c.800A>G (p.Asn267Ser) rs794726990
NM_003159.2(CDKL5):c.825+5G>A rs1555951149
NM_003159.2(CDKL5):c.913C>T (p.Arg305Cys) rs1064794671
NM_003159.2(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.