ClinVar Miner

List of variants in gene combination RAD51D, RAD51L3-RFFL reported as likely pathogenic by Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge

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Total variants: 7
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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

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