List of variants in gene KRIT1 reported as likely benign for Angiokeratoma corporis diffusum with arteriovenous fistulas

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

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_194454.3(KRIT1):c.846-5dup	rs373763254	0.00219
NM_194454.3(KRIT1):c.*132T>G	rs572414111	0.00138
NM_194454.3(KRIT1):c.*137del	rs543954194	0.00138
NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys)	rs370360812	0.00002
NM_194454.3(KRIT1):c.1938A>G (p.Thr646=)	rs369915828	0.00001
NM_194454.3(KRIT1):c.845+10C>G	rs372125478

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.