ClinVar Miner

List of variants studied for Breast-ovarian cancer, familial, susceptibility to, 4 by Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002878.4(RAD51D):c.167T>G (p.Val56Gly) rs745307359 0.00033
NM_001142571.1:c.637_1047del
NM_001142571.1:c.963_1047del
NM_002878.4(RAD51D):c.144+1G>T rs2142477107
NM_002878.4(RAD51D):c.146_263+1del rs2142473486
NM_002878.4(RAD51D):c.1_82del (p.Met1fs) rs2142480074
NM_002878.4(RAD51D):c.24_27del (p.Cys9fs) rs2142480769
NM_002878.4(RAD51D):c.264-1G>A rs2091622013
NM_002878.4(RAD51D):c.266_267del (p.Leu89fs) rs2142437431
NM_002878.4(RAD51D):c.269A>G (p.Asp90Gly) rs2142437395
NM_002878.4(RAD51D):c.580del (p.Thr194fs) rs2142421182
NM_002878.4(RAD51D):c.598del (p.Thr199_Val200insTer) rs2142420962
NM_002878.4(RAD51D):c.718G>C (p.Asp240His) rs2091560282
NM_002878.4(RAD51D):c.754del (p.Thr252fs) rs2142412448
NM_002878.4(RAD51D):c.812T>C (p.Val271Ala) rs2142411798
NM_002878.4(RAD51D):c.857del (p.Ala286fs) rs2142411343
NM_002878.4(RAD51D):c.906_*1del (p.Thr303fs) rs2142408532
NM_002878.4(RAD51D):c.971A>T (p.Gln324Leu) rs2091527352
NM_002878.4:c.1_263del
NM_002878.4:c.1_987del
NM_002878.4:c.740_987del
NM_002878.4:c.82_577-1del

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