ClinVar Miner

List of variants in gene CDKL5 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_001323289.2(CDKL5):c.1456G>A (p.Ala486Thr) rs867535910
NM_001323289.2(CDKL5):c.1463G>A (p.Ser488Asn)
NM_001323289.2(CDKL5):c.1535G>A (p.Ser512Asn)
NM_001323289.2(CDKL5):c.272A>G (p.Tyr91Cys) rs1064797360
NM_001323289.2(CDKL5):c.2876C>G (p.Ala959Gly)
NM_001323289.2(CDKL5):c.403G>A (p.Asp135Asn)
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.611T>G (p.Leu204Arg)
NM_001323289.2(CDKL5):c.781A>G (p.Arg261Gly) rs1555951145

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.