List of variants in gene CHEK2 reported as uncertain significance for Li-Fraumeni syndrome 2

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)	rs200050883	0.00034
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)	rs141568342	0.00015
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)	rs121908706	0.00007
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)	rs121908701	0.00006
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)	rs141776984	0.00004
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala)	rs374395284	0.00004
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)	rs587782268	0.00002
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val)	rs876659950	0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)	rs575910805	0.00002
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg)	rs72552323	0.00001
NM_007194.4(CHEK2):c.1141A>C (p.Met381Leu)	rs375130261
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu)	rs1060502713
NM_007194.4(CHEK2):c.1461+5G>A	rs769841229
NM_007194.4(CHEK2):c.300G>T (p.Gln100His)
NM_007194.4(CHEK2):c.665T>A (p.Met222Lys)	rs775134484

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.