ClinVar Miner

List of variants in gene RASA1 reported as likely benign for Capillary malformation-arteriovenous malformation 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_002890.3(RASA1):c.-198G>T rs149279711 0.00708
NM_002890.3(RASA1):c.304G>T (p.Val102Leu) rs115606026 0.00315
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693 0.00016
NM_002890.3(RASA1):c.260C>G (p.Thr87Arg) rs553059467 0.00002
NM_002890.3(RASA1):c.-128GTT[2] rs371042291
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu) rs769463654

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.