ClinVar Miner

List of variants in gene combination CERT1, POLK reported as uncertain significance for Intellectual disability, autosomal dominant 34

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130105.1(CERT1):c.67G>A (p.Val23Ile) rs1268269861
NM_001379029.1(CERT1):c.-121del rs893362976
NM_001379029.1(CERT1):c.-140C>A rs993938595
NM_001379029.1(CERT1):c.-236C>A
NM_001379029.1(CERT1):c.-281del
NM_001379029.1(CERT1):c.-41A>T rs757255215

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.