ClinVar Miner

List of variants reported as not provided for cerebral cavernous malformation 2 by Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031443.4(CCM2):c.30+2639G>A rs181735976 0.00195
NM_031443.4(CCM2):c.288+179G>C rs137874552 0.00184
NM_031443.4(CCM2):c.31-18122A>T rs182880220 0.00172
NM_031443.4(CCM2):c.204+2040T>C rs564132631 0.00012
NM_031443.4(CCM2):c.31-14922C>T rs776682467 0.00009
NM_031443.3(CCM2):c.-613A>G rs1554353188
NM_031443.4(CCM2):c.205-11866_205-11863del rs547206569
NM_031443.4(CCM2):c.30+4465C>T rs1554354900

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.