ClinVar Miner

List of variants reported as likely pathogenic for breast-ovarian cancer, familial, susceptibility to, 4 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_002878.4(RAD51D):c.619T>C (p.Ser207Pro) rs372365287 0.00001
NM_002878.4(RAD51D):c.739-1G>A rs1555567202 0.00001
NC_000017.10:g.(?_33427972)_(33428065_?)del
NC_000017.10:g.(?_33427972)_(33428404_?)del
NC_000017.11:g.(?_35100943)_(35101046_?)del
NC_000017.11:g.(?_35100947)_(35101042_?)del
NM_002878.3(RAD51D):c.739-?_*1161del
NM_002878.4(RAD51D):c.144+1_144+11delinsCC rs1555570397
NM_002878.4(RAD51D):c.145-2A>G rs2142474941
NM_002878.4(RAD51D):c.145-2_163del
NM_002878.4(RAD51D):c.263+1G>A rs1555570242
NM_002878.4(RAD51D):c.263+1G>T
NM_002878.4(RAD51D):c.263+2T>C rs200564819
NM_002878.4(RAD51D):c.264-2A>C rs1555568514
NM_002878.4(RAD51D):c.345+2T>C rs876659394
NM_002878.4(RAD51D):c.346-1G>C rs1555568386
NM_002878.4(RAD51D):c.480+1G>A rs1597862471
NM_002878.4(RAD51D):c.480+1G>T rs1597862471
NM_002878.4(RAD51D):c.480+2T>C rs2142432010
NM_002878.4(RAD51D):c.481-1G>A rs2091605445
NM_002878.4(RAD51D):c.481-1G>T
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp) rs370228071
NM_002878.4(RAD51D):c.623dup (p.Thr209fs) rs1555567610
NM_002878.4(RAD51D):c.641dup (p.Leu215fs) rs1409088398
NM_002878.4(RAD51D):c.667+1G>T rs1597858666
NM_002878.4(RAD51D):c.668-1G>A rs2142418872
NM_002878.4(RAD51D):c.668-2A>C rs1567726325
NM_002878.4(RAD51D):c.668-2_670del rs2091561681
NM_002878.4(RAD51D):c.728dup (p.Met243fs) rs1060502958
NM_002878.4(RAD51D):c.738+1G>A rs1567726124
NM_002878.4(RAD51D):c.738+1G>T
NM_002878.4(RAD51D):c.738+2T>C
NM_002878.4(RAD51D):c.752del (p.Ile251fs) rs1597856236
NM_002878.4(RAD51D):c.766del (p.Asp256fs) rs1597856162
NM_002878.4(RAD51D):c.772_778del (p.Gly258fs) rs1064795045
NM_002878.4(RAD51D):c.774dup (p.Arg259fs) rs1555567170
NM_002878.4(RAD51D):c.801del (p.Trp268fs) rs2142411904
NM_002878.4(RAD51D):c.82+1G>A rs786202788
NM_002878.4(RAD51D):c.82+2T>G rs1597878498
NM_002878.4(RAD51D):c.823_841dup (p.Ile281fs)
NM_002878.4(RAD51D):c.83-1G>A rs2091789413
NM_002878.4(RAD51D):c.83-2A>G rs2091789428
NM_002878.4(RAD51D):c.854del (p.Gly285fs) rs1597855883
NM_002878.4(RAD51D):c.864dup (p.Gly289fs)
NM_002878.4(RAD51D):c.886del (p.Ala296fs) rs761589376
NM_002878.4(RAD51D):c.896_*505del597 (p.Ser299_Ter329delinsXaa)
NM_002878.4(RAD51D):c.898del (p.Arg300fs) rs786202251
NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter) rs1060502959
NM_002878.4(RAD51D):c.904-2A>T rs1403784434

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