ClinVar Miner

List of variants reported for Cerebral cavernous malformation by Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.262+1138G>A rs560870062 0.00470
NM_194454.3(KRIT1):c.-2-308C>T rs567181702 0.00183
NM_194454.3(KRIT1):c.1144dup (p.Arg382fs) rs1554518386
NM_194454.3(KRIT1):c.729+211T>A rs1344083775
NM_194454.3(KRIT1):c.729+2T>C rs1554528541

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.