ClinVar Miner

List of variants in gene CHEK2 reported as pathogenic for Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Malignant tumor of prostate; Colorectal cancer

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	rs587781269	0.00003
NM_007194.4(CHEK2):c.593-1G>T	rs786203229

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