ClinVar Miner

List of variants reported as likely pathogenic by Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002878.4(RAD51D):c.1_82del (p.Met1fs) rs2142480074
NM_002878.4(RAD51D):c.266_267del (p.Leu89fs) rs2142437431
NM_002878.4(RAD51D):c.564_567del (p.Val189fs) rs2142428876
NM_002878.4(RAD51D):c.580del (p.Thr194fs) rs2142421182
NM_002878.4(RAD51D):c.598del (p.Thr199_Val200insTer) rs2142420962
NM_002878.4(RAD51D):c.620C>A (p.Ser207Ter) rs370228071
NM_002878.4(RAD51D):c.857del (p.Ala286fs) rs2142411343
NM_058216.3(RAD51C):c.404+1G>C rs1555593939
NM_058216.3(RAD51C):c.572-1G>T rs1413872299
NM_058216.3(RAD51C):c.705+1G>T rs876658644
NM_058216.3(RAD51C):c.706-1G>A rs1555599090
NM_058216.3(RAD51C):c.801del (p.Gln267fs) rs2143853790
NM_058216.3(RAD51C):c.837+5G>T rs1567799952
NM_058216.3(RAD51C):c.966delG rs2144044105

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