List of variants reported as benign for Cerebral cavernous malformation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_194454.3(KRIT1):c.1980A>G (p.Val660=)	rs11542682	0.10861
NM_194456.1(KRIT1):c.*1385A>G	rs62467792	0.09950
NM_019004.2(ANKIB1):c.-614C>T	rs28365965	0.07914
NM_019004.2(ANKIB1):c.-553G>A	rs58075588	0.03112
NM_194456.1(KRIT1):c.*1444T>G	rs10240962	0.02684
NM_194454.3(KRIT1):c.*272G>A	rs28502064	0.02669
NM_194454.3(KRIT1):c.*320C>T	rs112567410	0.02314
NM_194454.3(KRIT1):c.*141C>T	rs117325194	0.00554
NM_194454.3(KRIT1):c.2044A>C (p.Lys682Gln)	rs138763545	0.00264
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=)	rs143710815	0.00238
NM_194454.3(KRIT1):c.846-5dup	rs373763254	0.00219
NM_194454.3(KRIT1):c.1245T>G (p.Ile415Met)	rs41278788	0.00194
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=)	rs140009885	0.00187
NM_194456.1(KRIT1):c.*1702A>G	rs192818018	0.00163
NM_194454.3(KRIT1):c.*132T>G	rs572414111	0.00138
NM_194454.3(KRIT1):c.*137del	rs543954194	0.00138
NM_194454.3(KRIT1):c.1819-12G>C	rs199748245	0.00097
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln)	rs34358665	0.00097
NM_194454.3(KRIT1):c.1146+8A>T	rs182762651	0.00093
NM_194454.3(KRIT1):c.2046G>A (p.Lys682=)	rs144960332	0.00080
NM_194454.3(KRIT1):c.1782A>G (p.Ala594=)	rs145605400	0.00054
NM_194454.3(KRIT1):c.2085T>A (p.Thr695=)	rs149437256	0.00051
NM_194454.3(KRIT1):c.1809T>C (p.His603=)	rs149754162	0.00011
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser)	rs752995216	0.00005
NM_194454.3(KRIT1):c.*378dup	rs34910226
NM_194454.3(KRIT1):c.-525G>T	rs571563061
NM_194454.3(KRIT1):c.1147-20dup
NM_194456.1(KRIT1):c.*1335T>C	rs17164414

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.