ClinVar Miner

List of variants in gene combination RAD51D, RAD51L3-RFFL reported as pathogenic for Breast-ovarian cancer, familial, susceptibility to, 4

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Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00003
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00003
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter) rs587781756 0.00002
NM_002878.4(RAD51D):c.576+1G>A rs781161543 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_002878.4(RAD51D):c.461_462insTT (p.Gln155fs) rs1555568296 0.00001
NM_002878.4(RAD51D):c.564del (p.Val189fs) rs786202750 0.00001
NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter) rs775365939 0.00001
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter) rs771007945 0.00001
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter) rs750219200 0.00001
NC_000017.11:g.(?_35099792)_(35103544_?)del
NC_000017.11:g.(?_35100943)_(35103554_?)del
NC_000017.11:g.(?_35103244)_(35119623_?)del
NC_000017.11:g.(?_35106380)_(35107453_?)del
NC_000017.11:g.(?_35118491)_(35118629_?)del
NC_000017.11:g.(?_35118491)_(35119623_?)del
NC_000017.11:g.(?_35118495)_(35119619_?)del
NM_002878.4(RAD51D):c.106del (p.Leu36fs) rs2509185640
NM_002878.4(RAD51D):c.109del (p.Glu37fs) rs2091788666
NM_002878.4(RAD51D):c.121C>T (p.Gln41Ter) rs2142477410
NM_002878.4(RAD51D):c.131_144+24del rs1064795716
NM_002878.4(RAD51D):c.140_141insAA (p.Tyr47Ter) rs587782736
NM_002878.4(RAD51D):c.141C>A (p.Tyr47Ter) rs771077929
NM_002878.4(RAD51D):c.141C>G (p.Tyr47Ter) rs771077929
NM_002878.4(RAD51D):c.144+1G>T rs2142477107
NM_002878.4(RAD51D):c.146_263+1del rs2142473486
NM_002878.4(RAD51D):c.148_157del (p.Ala49_Leu50insTer) rs2509182483
NM_002878.4(RAD51D):c.148del (p.Leu50fs) rs1555570301
NM_002878.4(RAD51D):c.166del (p.Val56fs) rs2509182386
NM_002878.4(RAD51D):c.167dup (p.Leu57fs) rs2142474668
NM_002878.4(RAD51D):c.16del (p.Val6fs) rs2509189361
NM_002878.4(RAD51D):c.170del (p.Leu57fs) rs2509182326
NM_002878.4(RAD51D):c.177_204dup (p.Ala69fs) rs2142474239
NM_002878.4(RAD51D):c.178C>T (p.Gln60Ter) rs1555570285
NM_002878.4(RAD51D):c.185C>A (p.Ser62Ter) rs374357106
NM_002878.4(RAD51D):c.185_200del (p.Ser62fs) rs786202179
NM_002878.4(RAD51D):c.195del (p.Pro65_Val66insTer)
NM_002878.4(RAD51D):c.195dup (p.Val66fs) rs2509181990
NM_002878.4(RAD51D):c.19G>T (p.Gly7Ter) rs1064795913
NM_002878.4(RAD51D):c.200_218del (p.Asn67fs) rs2509181684
NM_002878.4(RAD51D):c.210_229del (p.Tyr72fs) rs1555570266
NM_002878.4(RAD51D):c.210_229dup (p.Thr77delinsIleSerThrArgAsnTer) rs1555570266
NM_002878.4(RAD51D):c.215del (p.Tyr72fs) rs2142474090
NM_002878.4(RAD51D):c.216C>A (p.Tyr72Ter) rs148690585
NM_002878.4(RAD51D):c.216C>G (p.Tyr72Ter) rs148690585
NM_002878.4(RAD51D):c.216_218del (p.Tyr72_Glu73delinsTer) rs2509181675
NM_002878.4(RAD51D):c.217G>T (p.Glu73Ter) rs369946779
NM_002878.4(RAD51D):c.223del (p.Glu74_Leu75insTer) rs2509181607
NM_002878.4(RAD51D):c.226_238del (p.Lys76fs) rs2509181434
NM_002878.4(RAD51D):c.23_27delinsA (p.Leu8fs) rs2091798919
NM_002878.4(RAD51D):c.243_244insGG (p.Leu82fs) rs1597876652
NM_002878.4(RAD51D):c.245_246delinsACTGGCACC (p.Leu82fs) rs2509181363
NM_002878.4(RAD51D):c.24_27del (p.Cys9fs) rs2142480769
NM_002878.4(RAD51D):c.250_251del (p.Thr84fs) rs2509181292
NM_002878.4(RAD51D):c.256del (p.Ile86fs) rs2142473574
NM_002878.4(RAD51D):c.264-1G>A rs2091622013
NM_002878.4(RAD51D):c.268_269delinsT (p.Asp90fs) rs2509143386
NM_002878.4(RAD51D):c.26_27delinsAA (p.Cys9Ter) rs2509189216
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs) rs753862052
NM_002878.4(RAD51D):c.273del (p.Lys91fs) rs2509143339
NM_002878.4(RAD51D):c.277_280del (p.Leu93fs) rs2509143271
NM_002878.4(RAD51D):c.27C>A (p.Cys9Ter) rs200487648
NM_002878.4(RAD51D):c.287dup (p.Leu97fs) rs1597863362
NM_002878.4(RAD51D):c.294_295del (p.Thr99fs) rs2509143037
NM_002878.4(RAD51D):c.29del (p.Pro10fs) rs2509189180
NM_002878.4(RAD51D):c.302_303del (p.Glu101fs) rs2142436967
NM_002878.4(RAD51D):c.313del (p.Ile105fs) rs2509142747
NM_002878.4(RAD51D):c.315del (p.Ile105fs) rs2509142706
NM_002878.4(RAD51D):c.326dup (p.Gly110fs) rs730882119
NM_002878.4(RAD51D):c.32dup (p.Leu12fs)
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter) rs786202434
NM_002878.4(RAD51D):c.340dup (p.Thr114fs) rs1567728649
NM_002878.4(RAD51D):c.343C>T (p.Gln115Ter) rs1555568473
NM_002878.4(RAD51D):c.346-1G>C rs1555568386
NM_002878.4(RAD51D):c.351T>A (p.Cys117Ter) rs1555568382
NM_002878.4(RAD51D):c.357_360del (p.Cys119fs) rs876658297
NM_002878.4(RAD51D):c.376del (p.His126fs) rs2509138759
NM_002878.4(RAD51D):c.382dup (p.Leu128fs) rs2142433535
NM_002878.4(RAD51D):c.385C>T (p.Gln129Ter) rs1597862732
NM_002878.4(RAD51D):c.392del (p.Asn131fs) rs2142433388
NM_002878.4(RAD51D):c.402T>A (p.Tyr134Ter)
NM_002878.4(RAD51D):c.402T>G (p.Tyr134Ter) rs1419080369
NM_002878.4(RAD51D):c.433del (p.Arg145fs) rs2509137893
NM_002878.4(RAD51D):c.43G>T (p.Glu15Ter) rs775510420
NM_002878.4(RAD51D):c.442C>T (p.Gln148Ter) rs773906955
NM_002878.4(RAD51D):c.447_450del (p.Leu150fs) rs2509137669
NM_002878.4(RAD51D):c.463C>T (p.Gln155Ter) rs1555568293
NM_002878.4(RAD51D):c.478C>T (p.Gln160Ter) rs1057521922
NM_002878.4(RAD51D):c.482dup (p.Glu162fs) rs2142429748
NM_002878.4(RAD51D):c.486del (p.Ala163fs) rs2142429702
NM_002878.4(RAD51D):c.502C>T (p.Gln168Ter) rs2142429527
NM_002878.4(RAD51D):c.506del (p.Val169fs) rs2091604825
NM_002878.4(RAD51D):c.509_512delinsATT (p.Val170fs) rs2509135478
NM_002878.4(RAD51D):c.51_52delinsG (p.Ile17fs) rs2142480422
NM_002878.4(RAD51D):c.523del (p.Ile175fs) rs2509135407
NM_002878.4(RAD51D):c.529C>T (p.Gln177Ter) rs2142429256
NM_002878.4(RAD51D):c.52C>T (p.Gln18Ter) rs2509188925
NM_002878.4(RAD51D):c.52del (p.Gln18fs) rs2142480422
NM_002878.4(RAD51D):c.52dup (p.Gln18fs) rs2142480422
NM_002878.4(RAD51D):c.547C>T (p.Gln183Ter) rs587782695
NM_002878.4(RAD51D):c.550G>T (p.Glu184Ter) rs200009601
NM_002878.4(RAD51D):c.564_568delinsA (p.Val189fs) rs2509135094
NM_002878.4(RAD51D):c.565_568del (p.Val189fs) rs2091603173
NM_002878.4(RAD51D):c.571C>T (p.Gln191Ter) rs2142428821
NM_002878.4(RAD51D):c.576+1G>T rs781161543
NM_002878.4(RAD51D):c.576+2T>C rs2142428757
NM_002878.4(RAD51D):c.577-1G>A rs2142421220
NM_002878.4(RAD51D):c.577-2A>G rs1555567649
NM_002878.4(RAD51D):c.584del (p.Gly195fs) rs2509130611
NM_002878.4(RAD51D):c.590C>G (p.Ser197Ter) rs2091565327
NM_002878.4(RAD51D):c.605del (p.Val202fs) rs2509130471
NM_002878.4(RAD51D):c.610del (p.Val204fs) rs2509130428
NM_002878.4(RAD51D):c.612del (p.Val205fs) rs2091564839
NM_002878.4(RAD51D):c.623dup (p.Thr209fs) rs1555567610
NM_002878.4(RAD51D):c.649_655delinsTGAGGTT (p.Gly217_Gln219delinsTer) rs587781527
NM_002878.4(RAD51D):c.671T>A (p.Leu224Ter) rs1567726305
NM_002878.4(RAD51D):c.685C>T (p.Gln229Ter) rs1555567529
NM_002878.4(RAD51D):c.694_697dup (p.Glu233fs) rs2142418516
NM_002878.4(RAD51D):c.6_13dup (p.Arg5fs) rs1555570506
NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter) rs1555567197
NM_002878.4(RAD51D):c.746del (p.Asn249fs) rs2091536198
NM_002878.4(RAD51D):c.748del (p.His250fs) rs587780105
NM_002878.4(RAD51D):c.754del (p.Thr252fs) rs2142412448
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_002878.4(RAD51D):c.772_778del (p.Gly258fs) rs1064795045
NM_002878.4(RAD51D):c.793G>T (p.Gly265Ter)
NM_002878.4(RAD51D):c.81del (p.Val28fs) rs1064793952
NM_002878.4(RAD51D):c.85del (p.Val29fs) rs1057517586
NM_002878.4(RAD51D):c.898del (p.Arg300fs) rs786202251
NM_002878.4(RAD51D):c.94_95del (p.Val32fs) rs786203137
NM_002878.4(RAD51D):c.99del (p.Ala34fs) rs2091789001

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