ClinVar Miner

List of variants reported as pathogenic for Breast and colorectal cancer, susceptibility to by University of Washington Department of Laboratory Medicine, University of Washington

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.3(CHEK2):c.909-?_1095+?del

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