ClinVar Miner

List of variants in gene combination RAD51D, RAD51L3-RFFL reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 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.442C>T (p.Gln148Ter) rs773906955 0.00001
NM_002878.4(RAD51D):c.461_462insTT (p.Gln155fs) rs1555568296 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
NM_002878.4(RAD51D):c.-82_82+91del
NM_002878.4(RAD51D):c.131_144+24del rs1064795716
NM_002878.4(RAD51D):c.140_141insAA (p.Tyr47Ter) rs587782736
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.1A>G (p.Met1Val) rs561425038
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_002878.4(RAD51D):c.210_229dup (p.Thr77delinsIleSerThrArgAsnTer) rs1555570266
NM_002878.4(RAD51D):c.213_214del (p.Tyr72fs)
NM_002878.4(RAD51D):c.216C>A (p.Tyr72Ter) rs148690585
NM_002878.4(RAD51D):c.223del (p.Glu74_Leu75insTer)
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs) rs753862052
NM_002878.4(RAD51D):c.273del (p.Lys91fs)
NM_002878.4(RAD51D):c.277_280del (p.Leu93fs)
NM_002878.4(RAD51D):c.287dup (p.Leu97fs) rs1597863362
NM_002878.4(RAD51D):c.293delinsCC (p.Tyr98fs)
NM_002878.4(RAD51D):c.2T>G (p.Met1Arg) rs1064794619
NM_002878.4(RAD51D):c.2dup (p.Met1fs) rs772306012
NM_002878.4(RAD51D):c.301G>T (p.Glu101Ter)
NM_002878.4(RAD51D):c.309del (p.Glu104fs)
NM_002878.4(RAD51D):c.315del (p.Ile105fs)
NM_002878.4(RAD51D):c.317_320del (p.Val106fs)
NM_002878.4(RAD51D):c.326dup (p.Gly110fs) rs730882119
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter) rs786202434
NM_002878.4(RAD51D):c.343C>T (p.Gln115Ter) rs1555568473
NM_002878.4(RAD51D):c.350_351del (p.Cys117fs) rs2142434009
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.382del (p.Leu128fs)
NM_002878.4(RAD51D):c.385C>T (p.Gln129Ter) rs1597862732
NM_002878.4(RAD51D):c.388C>T (p.Gln130Ter)
NM_002878.4(RAD51D):c.433del (p.Arg145fs)
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.483del (p.Glu162fs) rs1597861892
NM_002878.4(RAD51D):c.506del (p.Val169fs) rs2091604825
NM_002878.4(RAD51D):c.51_52delinsG (p.Ile17fs)
NM_002878.4(RAD51D):c.547C>T (p.Gln183Ter) rs587782695
NM_002878.4(RAD51D):c.564_568delinsA (p.Val189fs)
NM_002878.4(RAD51D):c.564del (p.Val189fs) rs786202750
NM_002878.4(RAD51D):c.574C>T (p.Gln192Ter) rs2091602962
NM_002878.4(RAD51D):c.57dup (p.Leu20fs)
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.693_694delinsTT (p.Arg232Ter)
NM_002878.4(RAD51D):c.693_726del (p.Arg232fs) rs1597858243
NM_002878.4(RAD51D):c.694_715delinsTGAGAGCTGAAGACCCTGGCCT (p.Arg232_Arg239delinsTer)
NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter) rs1555567197
NM_002878.4(RAD51D):c.748del (p.His250fs) rs587780105
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.81del (p.Val28fs) rs1064793952
NM_002878.4(RAD51D):c.85del (p.Val29fs) rs1057517586
NM_002878.4(RAD51D):c.94_95del (p.Val32fs) rs786203137

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