List of variants in gene CHEK2 reported as pathogenic for Malignant tumor of breast

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
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	rs555607708	0.00181
NM_007194.4(CHEK2):c.319+2T>A	rs587782401	0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	rs587781269	0.00003
NG_008150.2:g.14927_51132dup
NM_007194.4(CHEK2):c.1324del (p.Ser442fs)	rs2145794195
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer)	rs766416564
NM_007194.4(CHEK2):c.591del (p.Val198fs)	rs587782245
NM_007194.4(CHEK2):c.793-110_846+2del	rs2145932387
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)	rs1474786480

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.