ClinVar Miner

List of variants reported as 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: 98
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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.576+1G>A rs781161543 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 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.655C>T (p.Gln219Ter) rs771007945 0.00001
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter) rs750219200 0.00001
NC_000017.10:g.(?_33427972)_(33430573_?)del
NC_000017.10:g.(?_33427972)_(33434476_?)del
NC_000017.10:g.(?_33430263)_(33430573_?)del
NC_000017.10:g.(?_33430267)_(33446638_?)del
NC_000017.10:g.(?_33443985)_(33446632_?)del
NC_000017.10:g.(?_33446541)_(33446632_?)del
NC_000017.11:g.(?_35099792)_(35103544_?)del
NC_000017.11:g.(?_35100943)_(35103554_?)del
NC_000017.11:g.(?_35100943)_(35119623_?)del
NC_000017.11:g.(?_35100953)_(35119613_?)del
NC_000017.11:g.(?_35103244)_(35119613_?)del
NC_000017.11:g.(?_35103244)_(35119623_?)del
NC_000017.11:g.(?_35106376)_(35107457_?)del
NC_000017.11:g.(?_35106380)_(35107453_?)del
NC_000017.11:g.(?_35116966)_(35118629_?)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)
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.148_157del (p.Ala49_Leu50insTer)
NM_002878.4(RAD51D):c.148del (p.Leu50fs) rs1555570301
NM_002878.4(RAD51D):c.166del (p.Val56fs)
NM_002878.4(RAD51D):c.167dup (p.Leu57fs) rs2142474668
NM_002878.4(RAD51D):c.16del (p.Val6fs)
NM_002878.4(RAD51D):c.177_204dup (p.Ala69fs) rs2142474239
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.19G>T (p.Gly7Ter) rs1064795913
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.217G>T (p.Glu73Ter)
NM_002878.4(RAD51D):c.243_244insGG (p.Leu82fs) rs1597876652
NM_002878.4(RAD51D):c.250_251del (p.Thr84fs)
NM_002878.4(RAD51D):c.256del (p.Ile86fs) rs2142473574
NM_002878.4(RAD51D):c.268_269delinsT (p.Asp90fs)
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.27C>A (p.Cys9Ter) rs200487648
NM_002878.4(RAD51D):c.287dup (p.Leu97fs) rs1597863362
NM_002878.4(RAD51D):c.302_303del (p.Glu101fs) rs2142436967
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.351T>A (p.Cys117Ter) rs1555568382
NM_002878.4(RAD51D):c.357_360del (p.Cys119fs) rs876658297
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.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.523del (p.Ile175fs)
NM_002878.4(RAD51D):c.529C>T (p.Gln177Ter)
NM_002878.4(RAD51D):c.52del (p.Gln18fs)
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.565_568del (p.Val189fs) rs2091603173
NM_002878.4(RAD51D):c.571C>T (p.Gln191Ter)
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
NM_002878.4(RAD51D):c.577-2A>G rs1555567649
NM_002878.4(RAD51D):c.590C>G (p.Ser197Ter)
NM_002878.4(RAD51D):c.610del (p.Val204fs)
NM_002878.4(RAD51D):c.612del (p.Val205fs) rs2091564839
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.746del (p.Asn249fs) rs2091536198
NM_002878.4(RAD51D):c.748del (p.His250fs) rs587780105
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
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
NM_002878.4(RAD51D):c.99del (p.Ala34fs) rs2091789001

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