List of variants in gene KRIT1 reported as pathogenic by OMIM

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
KRIT1, 1-BP INS, 1374C
NM_194454.3(KRIT1):c.1362_1363del (p.Gln455fs)	rs1180476377
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)	rs267607203
NM_194454.3(KRIT1):c.1867dup (p.Arg623fs)	rs2131309179
NM_194454.3(KRIT1):c.1879C>T (p.Gln627Ter)	rs2131309013
NM_194454.3(KRIT1):c.1940del (p.Lys647fs)	rs2131308132
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)	rs137853139
NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu)	rs137853140
NM_194454.3(KRIT1):c.699del (p.Leu233fs)	rs2131660732
NM_194454.3(KRIT1):c.845+2T>C	rs1563302930
NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter)	rs267607204

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.