ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 17q22(chr17:56809845-56811583)
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.215del (p.Tyr72fs) rs2142474090
NM_002878.4(RAD51D):c.24_27del (p.Cys9fs) rs2142480769
NM_002878.4(RAD51D):c.264-1G>A rs2091622013
NM_002878.4(RAD51D):c.754del (p.Thr252fs) rs2142412448
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
NM_058216.3(RAD51C):c.-13_14del (p.Met1_Thr5del) rs2143670048
NM_058216.3(RAD51C):c.405_571del rs2143742992
NM_058216.3(RAD51C):c.472dup (p.Ile158fs) rs2143746162
NM_058216.3(RAD51C):c.522_523insC (p.Ala175fs) rs2143748292
NM_058216.3(RAD51C):c.622_623del (p.Ile208fs) rs876659497
NM_058216.3(RAD51C):c.635del (p.Arg212fs) rs2143798753
NM_058216.3(RAD51C):c.656T>A (p.Leu219Ter) rs201529791
NM_058216.3(RAD51C):c.672dup (p.Leu225fs) rs2143800709
NM_058216.3(RAD51C):c.704dup (p.Val236fs) rs1567794476
NM_058216.3(RAD51C):c.706_837+2del rs2143849978
NM_058216.3(RAD51C):c.862del (p.Thr288fs) rs2143930413
NM_058216.3(RAD51C):c.945dup (p.His316fs) rs2143962519
NM_058216.3:c.1_705del
NM_058216.3:c.966_1027del
c.706-4423_1131+7851del;p.(Val236_Leu376delins11)

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