List of variants studied for cerebral cavernous malformation 2 by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000007.14:g.(45018761_45019059)_(45095530_45095828)del
NM_001029835.2(CCM2):c.401T>C (p.Leu134Pro)
NM_001029835.2(CCM2):c.428T>G (p.Leu143Arg)
NM_001029835.2(CCM2):c.430G>C (p.Ala144Pro)
NM_001029835.2(CCM2):c.656T>C (p.Leu219Pro)
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs)	rs1562921605
NM_031443.4(CCM2):c.169_172del (p.Arg57fs)	rs1562882045
NM_031443.4(CCM2):c.1A>G (p.Met1Val)	rs137852842
NM_031443.4(CCM2):c.23del (p.Gly8fs)	rs1562848466
NM_031443.4(CCM2):c.288+1G>A	rs1562906981
NM_031443.4(CCM2):c.30+5_30+6delinsTT	rs797044623
NM_031443.4(CCM2):c.319C>T (p.Gln107Ter)	rs137852841
NM_031443.4(CCM2):c.346T>C (p.Ser116Pro)	rs1562907616
NM_031443.4(CCM2):c.593T>G (p.Leu198Arg)	rs137852843
NM_031443.4(CCM2):c.610-1G>A	rs1562913873

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.