ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.221G>T (p.Gly74Val) rs104894933 0.00001
NM_000330.4(RS1):c.199_206dup (p.Gly70fs) rs1927824776
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys) rs61752060
NM_000330.4(RS1):c.372_373insTAGCCAGTGG (p.Ile125Ter) rs2147191359
NM_000330.4(RS1):c.418G>A (p.Gly140Arg) rs61752156
NM_000330.4(RS1):c.422G>A (p.Arg141His) rs61752159
NM_000330.4(RS1):c.608C>T (p.Pro203Leu) rs104894930
NM_000330.4(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000330.4(RS1):c.626G>A (p.Arg209His) rs281865362

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.