ClinVar Miner

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

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_002878.4(RAD51D):c.167T>G (p.Val56Gly) rs745307359 0.00033
GRCh37/hg19 17q22(chr17:56809845-56811583)
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.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.266_267del (p.Leu89fs) rs2142437431
NM_002878.4(RAD51D):c.269A>G (p.Asp90Gly) rs2142437395
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.709C>T (p.Leu237=) rs1555567510
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
NM_058216.3(RAD51C):c.-13_14del (p.Met1_Thr5del) rs2143670048
NM_058216.3(RAD51C):c.1009G>T (p.Val337Leu) rs2049473367
NM_058216.3(RAD51C):c.13A>T (p.Thr5Ser) rs1314517659
NM_058216.3(RAD51C):c.308T>A (p.Phe103Tyr) rs2143723981
NM_058216.3(RAD51C):c.310T>C (p.Cys104Arg) rs2047952776
NM_058216.3(RAD51C):c.348C>G (p.Pro116=) rs2047955792
NM_058216.3(RAD51C):c.388G>A (p.Gly130Arg) rs773293999
NM_058216.3(RAD51C):c.398A>G (p.Gln133Arg) rs2143727988
NM_058216.3(RAD51C):c.404+1G>C rs1555593939
NM_058216.3(RAD51C):c.405_571del rs2143742992
NM_058216.3(RAD51C):c.425T>C (p.Val142Ala) rs2143744027
NM_058216.3(RAD51C):c.467T>G (p.Val156Gly) rs1435180142
NM_058216.3(RAD51C):c.472A>T (p.Ile158Phe) rs771888635
NM_058216.3(RAD51C):c.472dup (p.Ile158fs) rs2143746162
NM_058216.3(RAD51C):c.489T>G (p.Ser163Arg) rs876659719
NM_058216.3(RAD51C):c.522_523insC (p.Ala175fs) rs2143748292
NM_058216.3(RAD51C):c.572-1G>T rs1413872299
NM_058216.3(RAD51C):c.586T>C (p.Leu196=) rs2143796827
NM_058216.3(RAD51C):c.613C>A (p.Leu205Ile) rs2143797916
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.65C>T (p.Ala22Val) rs2143676047
NM_058216.3(RAD51C):c.672dup (p.Leu225fs) rs2143800709
NM_058216.3(RAD51C):c.704dup (p.Val236fs) rs1567794476
NM_058216.3(RAD51C):c.705+1G>T rs876658644
NM_058216.3(RAD51C):c.706-1G>A rs1555599090
NM_058216.3(RAD51C):c.706_837+2del rs2143849978
NM_058216.3(RAD51C):c.708_837+2del
NM_058216.3(RAD51C):c.752A>G (p.Asp251Gly) rs2048496443
NM_058216.3(RAD51C):c.801G>A (p.Gln267=) rs2048499866
NM_058216.3(RAD51C):c.801del (p.Gln267fs) rs2143853790
NM_058216.3(RAD51C):c.837+5G>T rs1567799952
NM_058216.3(RAD51C):c.862del (p.Thr288fs) rs2143930413
NM_058216.3(RAD51C):c.871G>A (p.Asp291Asn) rs2143930779
NM_058216.3(RAD51C):c.882G>C (p.Gln294His) rs2143931255
NM_058216.3(RAD51C):c.89C>A (p.Ala30Glu) rs1000113630
NM_058216.3(RAD51C):c.945dup (p.His316fs) rs2143962519
NM_058216.3(RAD51C):c.947A>G (p.His316Arg) rs2143962686
NM_058216.3(RAD51C):c.966delG rs2144044105
NM_058216.3:c.1_571del
NM_058216.3:c.1_705del
NM_058216.3:c.838_965dup
NM_058216.3:c.905_966del
NM_058216.3:c.966_1027del
c.706-4423_1131+7851del;p.(Val236_Leu376delins11)

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