ClinVar Miner

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

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Total variants: 36
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HGVS dbSNP
NC_000017.10:g.(?_33426811)_(33430563_?)del
NC_000017.10:g.(?_33427962)_(33430573_?)del
NC_000017.10:g.(?_33430263)_(33446642_?)del
NC_000017.10:g.(?_33433399)_(33434472_?)del
NC_000017.10:g.(?_33445510)_(33445648_?)del
NC_000017.10:g.(?_33445510)_(33446642_?)del
NC_000017.10:g.(?_33445514)_(33446638_?)del
NM_002878.3(RAD51D):c.141C>A (p.Tyr47Ter)
NM_002878.3(RAD51D):c.141C>G (p.Tyr47Ter)
NM_002878.3(RAD51D):c.148del (p.Leu50fs) rs1555570301
NM_002878.3(RAD51D):c.185C>A (p.Ser62Ter) rs374357106
NM_002878.3(RAD51D):c.210_229del (p.Tyr72fs) rs1555570266
NM_002878.3(RAD51D):c.216C>A (p.Tyr72Ter) rs148690585
NM_002878.3(RAD51D):c.243_244insGG (p.Leu82fs)
NM_002878.3(RAD51D):c.270_271dup (p.Lys91fs) rs753862052
NM_002878.3(RAD51D):c.326dup (p.Gly110fs) rs730882119
NM_002878.3(RAD51D):c.330dup (p.Ser111Ter) rs786202434
NM_002878.3(RAD51D):c.343C>T (p.Gln115Ter) rs1555568473
NM_002878.3(RAD51D):c.351T>A (p.Cys117Ter) rs1555568382
NM_002878.3(RAD51D):c.357_360del (p.Cys119fs) rs876658297
NM_002878.3(RAD51D):c.363del (p.Ala122fs) rs730881935
NM_002878.3(RAD51D):c.451C>T (p.Gln151Ter) rs587781756
NM_002878.3(RAD51D):c.461_462insTT (p.Gln155fs) rs1555568296
NM_002878.3(RAD51D):c.463C>T (p.Gln155Ter) rs1555568293
NM_002878.3(RAD51D):c.478C>T (p.Gln160Ter) rs1057521922
NM_002878.3(RAD51D):c.547C>T (p.Gln183Ter) rs587782695
NM_002878.3(RAD51D):c.556C>T (p.Arg186Ter) rs387906843
NM_002878.3(RAD51D):c.576+1G>A rs781161543
NM_002878.3(RAD51D):c.649_655delinsTGAGGTT (p.Gly217_Gln219delinsTer) rs587781527
NM_002878.3(RAD51D):c.685C>T (p.Gln229Ter) rs1555567529
NM_002878.3(RAD51D):c.694C>T (p.Arg232Ter) rs587780104
NM_002878.3(RAD51D):c.748del (p.His250fs) rs587780105
NM_002878.3(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_002878.3(RAD51D):c.803G>A (p.Trp268Ter) rs750219200
NM_002878.3(RAD51D):c.81del (p.Val28fs) rs1064793952
NM_002878.3(RAD51D):c.94_95del (p.Val32fs) rs786203137

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