ClinVar Miner

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

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Total variants: 3

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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.1263del (p.Ser422fs)	rs587780174
NM_007194.4(CHEK2):c.593-1G>T	rs786203229

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