ClinVar Miner

List of variants reported as likely benign by RettBASE

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.283-43G>A rs267608448 0.00061
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_001323289.2(CDKL5):c.2152+48C>T rs267608652 0.00006
NM_000330.4(RS1):c.184+3190C>A rs267608667 0.00002
NM_000330.4(RS1):c.185-3207G>A rs587783161 0.00002
NM_000330.4(RS1):c.184+3218A>C rs267608666 0.00001
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631 0.00001
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001323289.2(CDKL5):c.1382A>G (p.Asn461Ser) rs267608629
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.403+27A>G rs786204959
NM_001323289.2(CDKL5):c.403+49_403+53del rs267608473
NM_001323289.2(CDKL5):c.464-40_464-37del rs267608481
NM_001323289.2(CDKL5):c.978-49_978-41del rs267608554

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.