ClinVar Miner

List of variants reported as likely pathogenic for breast carcinoma by Invitae

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 460
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs) rs730881645 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter) rs879253880 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007194.4(CHEK2):c.1375+2T>A rs1483241325 0.00001
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) rs774175654 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.684-7_694del rs1555921323 0.00001
NM_007194.4(CHEK2):c.792+2T>C rs545982789 0.00001
NM_007194.4(CHEK2):c.792+5G>C rs876658514 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_024675.4(PALB2):c.3350+4A>C rs180177136 0.00001
NM_032043.3(BRIP1):c.1794+1G>A rs766516963 0.00001
NM_032043.3(BRIP1):c.1794+1G>C rs766516963 0.00001
NM_032043.3(BRIP1):c.2379+1G>A rs1555590286 0.00001
NM_032043.3(BRIP1):c.2777C>T (p.Ala926Val) rs1483709056 0.00001
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000 0.00001
NC_000002.11:g.(?_215557064)_(215646033_?)del
NC_000002.11:g.(?_215593400)_(215595242_?)del
NC_000002.11:g.(?_215595125)_(215595242_?)del
NC_000002.11:g.(?_215609781)_(215617289_?)dup
NC_000002.11:g.(?_215609781)_(215661851_?)dup
NC_000002.11:g.(?_215632196)_(215657179_?)del
NC_000002.11:g.(?_215635923)_(215645654_?)del
NC_000002.11:g.(?_215645274)_(215657179_?)dup
NC_000002.11:g.(?_215657001)_(215661861_?)dup
NC_000002.11:g.(?_215657011)_(215661851_?)dup
NC_000002.12:g.(?_214728666)_(214730518_?)del
NC_000002.12:g.(?_214730216)_(214769312_?)del
NC_000002.12:g.(?_214767472)_(214767664_?)dup
NC_000002.12:g.(?_214767472)_(214781519_?)dup
NC_000016.10:g.(?_23613994)_(23624104_?)del
NC_000016.10:g.(?_23613994)_(23626407_?)del
NC_000016.10:g.(?_23621352)_(23621488_?)del
NC_000016.10:g.(?_23621352)_(23624104_?)dup
NC_000016.10:g.(?_23621362)_(23623130_?)del
NC_000016.9:g.(?_23619175)_(23619343_?)dup
NC_000016.9:g.(?_23619175)_(23625422_?)del
NC_000016.9:g.(?_23625315)_(23625422_?)dup
NC_000016.9:g.(?_23632677)_(23637724_?)dup
NC_000016.9:g.(?_23637547)_(23637728_?)del
NC_000017.10:g.(?_59770781)_(59770883_?)dup
NC_000017.10:g.(?_59770785)_(59770879_?)dup
NC_000017.10:g.(?_59858191)_(59858864_?)dup
NC_000017.10:g.(?_59861621)_(59937278_?)dup
NC_000017.10:g.(?_59861625)_(59937274_?)dup
NC_000017.10:g.(?_59870948)_(59886128_?)dup
NC_000017.10:g.(?_59878604)_(59878845_?)del
NC_000017.10:g.(?_59878633)_(59883057_?)del
NC_000017.10:g.(?_59878633)_59883038del
NC_000017.10:g.(?_59924456)_(59926623_?)dup
NC_000017.10:g.(?_59924462)_(59926617_?)dup
NC_000017.11:g.(?_61808457)_(61808767_?)del
NC_000017.11:g.(?_61847091)_(61847230_?)del
NC_000017.11:g.(?_61861441)_(61861545_?)del
NC_000022.10:g.(?_29091105)_(29108015_?)dup
NC_000022.10:g.(?_29095816)_(29095935_?)dup
NC_000022.10:g.(?_29095816)_(29099564_?)del
NC_000022.10:g.(?_29099483)_(29099564_?)dup
NC_000022.10:g.(?_29099483)_(29115483_?)dup
NC_000022.10:g.(?_29099493)_(29099554_?)dup
NC_000022.10:g.(?_29105984)_(29115483_?)dup
NC_000022.10:g.(?_29105988)_(29106053_?)del
NC_000022.10:g.(?_29105988)_(29108011_?)dup
NC_000022.10:g.(?_29120157)_(29121086_?)del
NC_000022.10:g.(?_29120955)_(29121365_?)dup
NC_000022.11:g.(?_28687743)_(28687986_?)del
NC_000022.11:g.(?_28687887)_(28687996_?)del
NC_000022.11:g.(?_28687891)_(28689221_?)del
NC_000022.11:g.(?_28689125)_(28696997_?)del
NC_000022.11:g.(?_28689129)_(28696993_?)del
NC_000022.11:g.(?_28699838)_(28703566_?)del
NC_000022.11:g.(?_28709996)_(28710069_?)del
NC_000022.11:g.(?_28709996)_(28712027_?)dup
NC_000022.11:g.(?_28709996)_(28725377_?)dup
NC_000022.11:g.(?_28719385)_(28725377_?)dup
NM_000465.4(BARD1):c.1306_1314+7del rs1694934695
NM_000465.4(BARD1):c.1314+1G>A rs753785671
NM_000465.4(BARD1):c.1396-13A>G
NM_000465.4(BARD1):c.1396-1G>A rs2106077292
NM_000465.4(BARD1):c.1396-1G>C
NM_000465.4(BARD1):c.1565_1568+298del rs2106075317
NM_000465.4(BARD1):c.1568+1G>A rs2106076135
NM_000465.4(BARD1):c.1568+1G>T
NM_000465.4(BARD1):c.1569-1G>A rs1574756672
NM_000465.4(BARD1):c.1569-2A>C rs1693509336
NM_000465.4(BARD1):c.1569-2A>G rs1693509336
NM_000465.4(BARD1):c.158+1G>A
NM_000465.4(BARD1):c.158+1G>T rs1553628351
NM_000465.4(BARD1):c.159T>G (p.Cys53Trp) rs201708813
NM_000465.4(BARD1):c.1676_1677+23del rs1553616339
NM_000465.4(BARD1):c.1677+1G>C rs1060501310
NM_000465.4(BARD1):c.1677+5G>A rs587780019
NM_000465.4(BARD1):c.1678-1_1678del rs1553615184
NM_000465.4(BARD1):c.1678-1_1684del
NM_000465.4(BARD1):c.1678-3C>G rs1693089932
NM_000465.4(BARD1):c.1810+1G>A rs876659894
NM_000465.4(BARD1):c.1810+2T>G rs1234033325
NM_000465.4(BARD1):c.1810+3G>T rs1310430913
NM_000465.4(BARD1):c.1811-1G>A rs879253952
NM_000465.4(BARD1):c.1811-1G>C rs879253952
NM_000465.4(BARD1):c.1811-2A>G rs1693044156
NM_000465.4(BARD1):c.1865_1903+274del rs1693019491
NM_000465.4(BARD1):c.1903+1G>A rs876660237
NM_000465.4(BARD1):c.1903+1G>T rs876660237
NM_000465.4(BARD1):c.1903+2T>C rs1574737047
NM_000465.4(BARD1):c.1904-1G>A
NM_000465.4(BARD1):c.1904-2A>T rs864622239
NM_000465.4(BARD1):c.1904-2del rs876659560
NM_000465.4(BARD1):c.1970del (p.Pro657fs) rs786203739
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) rs730881422
NM_000465.4(BARD1):c.2001+1G>A rs768490891
NM_000465.4(BARD1):c.2001+1G>C rs768490891
NM_000465.4(BARD1):c.2001+3A>G rs1553612461
NM_000465.4(BARD1):c.2003T>A (p.Leu668Ter) rs2105988065
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter) rs1328046615
NM_000465.4(BARD1):c.2024del (p.Cys675fs) rs2105987971
NM_000465.4(BARD1):c.2036T>A (p.Leu679Ter) rs1692227690
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs) rs1553612222
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter) rs1559372578
NM_000465.4(BARD1):c.2058_2061del (p.His686fs) rs2105987749
NM_000465.4(BARD1):c.2063dup (p.Asp689fs) rs1064796026
NM_000465.4(BARD1):c.2078dup (p.Leu694fs) rs1553612205
NM_000465.4(BARD1):c.2099del (p.Gly700fs) rs1553612184
NM_000465.4(BARD1):c.2099dup (p.Gln701fs)
NM_000465.4(BARD1):c.2101C>T (p.Gln701Ter) rs587782348
NM_000465.4(BARD1):c.2109del (p.Ser704fs) rs2105987421
NM_000465.4(BARD1):c.2122_2124delinsCC (p.Lys708fs) rs1692217798
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs) rs1692216921
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr) rs1064793959
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter) rs1553612164
NM_000465.4(BARD1):c.2144dup (p.Thr716fs) rs1574703115
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) rs786203811
NM_000465.4(BARD1):c.215+1G>A rs2106145519
NM_000465.4(BARD1):c.215+2T>A
NM_000465.4(BARD1):c.215+2T>C rs1559441760
NM_000465.4(BARD1):c.2157_2166del (p.Val720fs)
NM_000465.4(BARD1):c.216-1G>A rs876658905
NM_000465.4(BARD1):c.216-1G>C
NM_000465.4(BARD1):c.216-2A>G rs2106135562
NM_000465.4(BARD1):c.2166C>A (p.Tyr722Ter) rs2105987094
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
NM_000465.4(BARD1):c.2203C>T (p.Gln735Ter)
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter) rs2105986813
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
NM_000465.4(BARD1):c.2218G>T (p.Glu740Ter) rs1692204026
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter) rs1259296823
NM_000465.4(BARD1):c.2235del (p.His746fs) rs2105986664
NM_000465.4(BARD1):c.2261_2262del (p.Lys754fs) rs1574702099
NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter) rs786202118
NM_000465.4(BARD1):c.2279C>A (p.Ser760Ter) rs730881425
NM_000465.4(BARD1):c.2286G>A (p.Trp762Ter)
NM_000465.4(BARD1):c.2291_2294del (p.Ile764fs)
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.363_364+1del rs2106134415
NM_000465.4(BARD1):c.364+1G>T rs2106134408
NM_000465.4(BARD1):c.365-1G>T rs1559426428
NM_000465.4(BARD1):c.365-24_371del rs2106112761
NM_000465.4(BARD1):c.365-2A>T
NM_000465.4(BARD1):c.365-3315_793del
NM_007194.3(CHEK2):c.320-?_592+?dup273
NM_007194.4(CHEK2):c.1008+1G>A rs1555915298
NM_007194.4(CHEK2):c.1008+1G>C rs1555915298
NM_007194.4(CHEK2):c.1008+1G>T rs1555915298
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1009-1G>A rs1555914382
NM_007194.4(CHEK2):c.1009-2A>C rs766158073
NM_007194.4(CHEK2):c.1009-2A>G rs766158073
NM_007194.4(CHEK2):c.1009-2A>T rs766158073
NM_007194.4(CHEK2):c.1009-2_1011del
NM_007194.4(CHEK2):c.1095+1G>A rs768172525
NM_007194.4(CHEK2):c.1095+1G>C
NM_007194.4(CHEK2):c.1095+1G>T rs768172525
NM_007194.4(CHEK2):c.1095+2T>A rs1569115687
NM_007194.4(CHEK2):c.1095+2T>C rs1569115687
NM_007194.4(CHEK2):c.1095+2T>G rs1569115687
NM_007194.4(CHEK2):c.1096-1G>A rs1060502716
NM_007194.4(CHEK2):c.1096-1G>C rs1060502716
NM_007194.4(CHEK2):c.1096-1G>T rs1060502716
NM_007194.4(CHEK2):c.1096-1_1096delinsCG
NM_007194.4(CHEK2):c.1096-2A>C
NM_007194.4(CHEK2):c.1096-2A>G rs2145807398
NM_007194.4(CHEK2):c.1259+1G>A rs121908707
NM_007194.4(CHEK2):c.1259+1G>T rs121908707
NM_007194.4(CHEK2):c.1259+2T>C rs1555913631
NM_007194.4(CHEK2):c.1259+2del rs1555913632
NM_007194.4(CHEK2):c.1260-24_1263del rs1601720308
NM_007194.4(CHEK2):c.1375+1G>A rs759706360
NM_007194.4(CHEK2):c.1375+1G>C rs759706360
NM_007194.4(CHEK2):c.1375+1G>T
NM_007194.4(CHEK2):c.1375+1_1375+2del rs876660801
NM_007194.4(CHEK2):c.1375+2T>C rs1483241325
NM_007194.4(CHEK2):c.1375+2T>G
NM_007194.4(CHEK2):c.1376-1G>A rs876659287
NM_007194.4(CHEK2):c.1376-1G>C rs876659287
NM_007194.4(CHEK2):c.1376-2A>G rs2145786737
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1461+1G>C rs886039629
NM_007194.4(CHEK2):c.1461+1G>T rs886039629
NM_007194.4(CHEK2):c.1461+2T>C rs779844113
NM_007194.4(CHEK2):c.1461+2del rs1601715755
NM_007194.4(CHEK2):c.1461+5G>A rs769841229
NM_007194.4(CHEK2):c.1462-2del
NM_007194.4(CHEK2):c.1473del (p.Met491fs)
NM_007194.4(CHEK2):c.1488del (p.Asp497fs)
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) rs2052245881
NM_007194.4(CHEK2):c.1499_1523del (p.Ser500fs) rs2145748708
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs) rs587782707
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter) rs587782489
NM_007194.4(CHEK2):c.1520_1523dup (p.Pro509fs) rs2145748685
NM_007194.4(CHEK2):c.1521_1524dup (p.Pro509fs)
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter) rs886039512
NM_007194.4(CHEK2):c.1528dup (p.Gln510fs) rs2052240942
NM_007194.4(CHEK2):c.1533del (p.Val511_Leu512insTer) rs2145748275
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
NM_007194.4(CHEK2):c.1540del (p.Gln514fs) rs2145748046
NM_007194.4(CHEK2):c.1543-1G>A rs2052190289
NM_007194.4(CHEK2):c.1543-1G>C rs2052190289
NM_007194.4(CHEK2):c.1543-2A>C rs1160973224
NM_007194.4(CHEK2):c.1543-2A>G
NM_007194.4(CHEK2):c.1544del (p.Pro515fs) rs1555911640
NM_007194.4(CHEK2):c.1546del (p.Ser516fs) rs1555911636
NM_007194.4(CHEK2):c.1546dup (p.Ser516fs) rs1555911636
NM_007194.4(CHEK2):c.1547del (p.Ser516fs) rs1555911635
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.319+1G>C rs765080766
NM_007194.4(CHEK2):c.319+1G>T rs765080766
NM_007194.4(CHEK2):c.319+2T>C
NM_007194.4(CHEK2):c.319+2T>G rs587782401
NM_007194.4(CHEK2):c.320-1G>C rs864622613
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.320-2A>G rs1336652138
NM_007194.4(CHEK2):c.320-2del
NM_007194.4(CHEK2):c.444_444+1del rs1064793780
NM_007194.4(CHEK2):c.445-1G>A rs587782830
NM_007194.4(CHEK2):c.445-2A>G rs1569158075
NM_007194.4(CHEK2):c.445-2A>T
NM_007194.4(CHEK2):c.445-8_446del rs2146062270
NM_007194.4(CHEK2):c.469_592+808del rs2053903140
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.592+1G>A rs1601822722
NM_007194.4(CHEK2):c.593-1G>A rs786203229
NM_007194.4(CHEK2):c.593-1G>C rs786203229
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.593-2A>C
NM_007194.4(CHEK2):c.593-2A>G rs2146007633
NM_007194.4(CHEK2):c.593-2A>T
NM_007194.4(CHEK2):c.683+1G>A rs786203650
NM_007194.4(CHEK2):c.683+1G>C rs786203650
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+2T>A rs781021132
NM_007194.4(CHEK2):c.683+2T>C rs781021132
NM_007194.4(CHEK2):c.683+2T>G
NM_007194.4(CHEK2):c.684-1G>A rs1298667185
NM_007194.4(CHEK2):c.684-1G>C rs1298667185
NM_007194.4(CHEK2):c.684-1del rs2145953393
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.684-2A>T rs2053419665
NM_007194.4(CHEK2):c.684-3_684-2del
NM_007194.4(CHEK2):c.684-5_684-2delinsC rs2053419709
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.792+2T>A rs545982789
NM_007194.4(CHEK2):c.792+2T>G rs545982789
NM_007194.4(CHEK2):c.792+2_792+17del
NM_007194.4(CHEK2):c.792_792+1del rs774831804
NM_007194.4(CHEK2):c.846+1G>A rs864622149
NM_007194.4(CHEK2):c.846+2T>A rs1601777275
NM_007194.4(CHEK2):c.846+2T>C rs1601777275
NM_007194.4(CHEK2):c.846+2T>G
NM_007194.4(CHEK2):c.847-14_847-2delinsGG rs1555917041
NM_007194.4(CHEK2):c.847-1G>A rs878854926
NM_007194.4(CHEK2):c.847-1G>T
NM_007194.4(CHEK2):c.847-2A>G rs1601753141
NM_007194.4(CHEK2):c.847-2A>T
NM_007194.4(CHEK2):c.847-2_857del rs2145878627
NM_007194.4(CHEK2):c.891_908+3del rs2145876703
NM_007194.4(CHEK2):c.903_908+26del rs2145876249
NM_007194.4(CHEK2):c.908+1G>A rs587781699
NM_007194.4(CHEK2):c.908+1G>C rs587781699
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007194.4(CHEK2):c.908+2T>C rs1601752066
NM_007194.4(CHEK2):c.909-1G>A rs886039721
NM_007194.4(CHEK2):c.909-1G>C rs886039721
NM_007194.4(CHEK2):c.909-1G>T rs886039721
NM_007194.4(CHEK2):c.909-2A>G rs1555915589
NM_024675.3(PALB2):c.1685-?_2748+?dup
NM_024675.3(PALB2):c.2587-?_2748+?del
NM_024675.3(PALB2):c.3114-?_3201+?dup88
NM_024675.3(PALB2):c.3114-?_3350+?del
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro) rs141047069
NM_024675.4(PALB2):c.108+2T>G
NM_024675.4(PALB2):c.1356_2586+201del
NM_024675.4(PALB2):c.1684+1G>A rs1555461148
NM_024675.4(PALB2):c.1684+1G>T rs1555461148
NM_024675.4(PALB2):c.1684+2T>A
NM_024675.4(PALB2):c.1685-2A>G rs754660432
NM_024675.4(PALB2):c.1685-3_1685-2insCTTATTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCGATCTCCTGACCTCGCGATCCGACCACCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGACCAGCC
NM_024675.4(PALB2):c.211+1G>A rs1555462026
NM_024675.4(PALB2):c.211+1G>T rs1555462026
NM_024675.4(PALB2):c.211+2T>C rs1967098495
NM_024675.4(PALB2):c.2514+1G>A rs886039729
NM_024675.4(PALB2):c.2514+1G>C rs886039729
NM_024675.4(PALB2):c.2515-1G>A rs587776417
NM_024675.4(PALB2):c.2515-1G>C rs587776417
NM_024675.4(PALB2):c.2586+1_2586+2delinsTA
NM_024675.4(PALB2):c.2749-1G>A rs1060502804
NM_024675.4(PALB2):c.2749-1G>C rs1060502804
NM_024675.4(PALB2):c.2749-1G>T rs1060502804
NM_024675.4(PALB2):c.2749-2A>C rs1555459747
NM_024675.4(PALB2):c.2749-2A>G rs1555459747
NM_024675.4(PALB2):c.2835-1G>A rs515726099
NM_024675.4(PALB2):c.2996+1G>T rs886039626
NM_024675.4(PALB2):c.2996+2T>C rs1966797789
NM_024675.4(PALB2):c.3113+1G>A rs1597079557
NM_024675.4(PALB2):c.3113+5G>A rs876659463
NM_024675.4(PALB2):c.3114-1G>A rs886039619
NM_024675.4(PALB2):c.3114-2A>G
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3202-2A>C rs1060499827
NM_024675.4(PALB2):c.3202-2A>G rs1060499827
NM_024675.4(PALB2):c.3350+2C>G rs1555458171
NM_024675.4(PALB2):c.3351-2A>G rs1060502764
NM_024675.4(PALB2):c.48+1G>A rs515726118
NM_024675.4(PALB2):c.48+1G>T rs515726118
NM_032043.2(BRIP1):c.2493-?_2575+?dup
NM_032043.2(BRIP1):c.505_506insAlu
NM_032043.2(BRIP1):c.919-?_1140+?del
NM_032043.3(BRIP1):c.1140+1G>A rs1555607628
NM_032043.3(BRIP1):c.1141-2A>C
NM_032043.3(BRIP1):c.1141-2A>T rs769583916
NM_032043.3(BRIP1):c.1340+1G>A rs1555607022
NM_032043.3(BRIP1):c.1340+2_1340+5del rs2077945546
NM_032043.3(BRIP1):c.1340+5G>C rs869312791
NM_032043.3(BRIP1):c.1341-2A>C
NM_032043.3(BRIP1):c.1473+1G>A rs748274524
NM_032043.3(BRIP1):c.1473+1G>C rs748274524
NM_032043.3(BRIP1):c.1473+1G>T rs748274524
NM_032043.3(BRIP1):c.1474-2A>G rs1603337052
NM_032043.3(BRIP1):c.1628+1G>C rs1438975574
NM_032043.3(BRIP1):c.1629-17_1652del
NM_032043.3(BRIP1):c.1629-1G>A rs1060501757
NM_032043.3(BRIP1):c.1629-1G>C rs1060501757
NM_032043.3(BRIP1):c.1629-1G>T rs1060501757
NM_032043.3(BRIP1):c.1794+2T>G
NM_032043.3(BRIP1):c.1795-1G>A rs1368457771
NM_032043.3(BRIP1):c.1795-1G>C
NM_032043.3(BRIP1):c.1795-2del
NM_032043.3(BRIP1):c.1878A>C (p.Glu626Asp) rs1567812484
NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp) rs1567812484
NM_032043.3(BRIP1):c.1935+1G>A
NM_032043.3(BRIP1):c.1936-1G>A rs1555601204
NM_032043.3(BRIP1):c.1936-1G>C rs1555601204
NM_032043.3(BRIP1):c.1936-2A>G rs878855143
NM_032043.3(BRIP1):c.205+2T>G rs1060501763
NM_032043.3(BRIP1):c.205+5G>A rs2078948368
NM_032043.3(BRIP1):c.205+5G>T rs2078948368
NM_032043.3(BRIP1):c.2097+1G>C rs786202941
NM_032043.3(BRIP1):c.2097+1G>T rs786202941
NM_032043.3(BRIP1):c.2097+2T>A rs2077532634
NM_032043.3(BRIP1):c.2257+1G>A rs2077029293
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032043.3(BRIP1):c.2258-1G>C
NM_032043.3(BRIP1):c.2370_2379+20del rs2144674380
NM_032043.3(BRIP1):c.2379+1G>T rs1555590286
NM_032043.3(BRIP1):c.2380-1G>A rs1567756032
NM_032043.3(BRIP1):c.2380-2A>C rs2144384449
NM_032043.3(BRIP1):c.2380-45_2402delinsTTGACCATTTGAATGGT rs2061856480
NM_032043.3(BRIP1):c.2492+1G>C rs1567755539
NM_032043.3(BRIP1):c.2492+1G>T
NM_032043.3(BRIP1):c.2492+1del rs1603293314
NM_032043.3(BRIP1):c.2492+2T>C
NM_032043.3(BRIP1):c.2492_2492+5del rs1603293306
NM_032043.3(BRIP1):c.2493-1G>A rs786203451
NM_032043.3(BRIP1):c.2493-2A>G rs1603280621
NM_032043.3(BRIP1):c.2493-3_2493-1del
NM_032043.3(BRIP1):c.2575+1G>C
NM_032043.3(BRIP1):c.2575+1G>T rs1567737536
NM_032043.3(BRIP1):c.2575G>A (p.Gly859Arg) rs2061476512
NM_032043.3(BRIP1):c.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.2576-1G>T rs587782539
NM_032043.3(BRIP1):c.2576-2A>G rs869312763
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
NM_032043.3(BRIP1):c.2905+1G>A rs876660203
NM_032043.3(BRIP1):c.2920dup (p.Leu974fs)
NM_032043.3(BRIP1):c.2968_2971del (p.Ser990fs)
NM_032043.3(BRIP1):c.2978dup (p.Asn994fs) rs2144092520
NM_032043.3(BRIP1):c.2995A>T (p.Arg999Ter)
NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)
NM_032043.3(BRIP1):c.3015dup (p.Asn1006Ter) rs1603275598
NM_032043.3(BRIP1):c.3022_3047del (p.Leu1008fs)
NM_032043.3(BRIP1):c.3023_3024insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGTAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGATACTAATTCTTT (p.Leu1008fs) rs2144091036
NM_032043.3(BRIP1):c.3023dup (p.Leu1008fs) rs2144091008
NM_032043.3(BRIP1):c.3028C>T (p.Gln1010Ter)
NM_032043.3(BRIP1):c.3039del (p.Gly1014fs) rs2144090521
NM_032043.3(BRIP1):c.3053del (p.Lys1018fs) rs2144090014
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter) rs1603275526
NM_032043.3(BRIP1):c.3117_3118del (p.Lys1040fs)
NM_032043.3(BRIP1):c.3127del (p.Ser1043fs) rs2061318961
NM_032043.3(BRIP1):c.3136_3137del (p.Val1046fs)
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter) rs1603275438
NM_032043.3(BRIP1):c.3167del (p.Ser1055_Ser1056insTer)
NM_032043.3(BRIP1):c.3187del (p.Ser1063fs)
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter) rs777213170
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer) rs1603275367
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter) rs786202927
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.3(BRIP1):c.3289G>T (p.Glu1097Ter) rs770509300
NM_032043.3(BRIP1):c.3310G>T (p.Glu1104Ter) rs1555572698
NM_032043.3(BRIP1):c.3324_3325insT (p.Ser1109Ter)
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter) rs1060501774
NM_032043.3(BRIP1):c.3340C>T (p.Gln1114Ter) rs1555572681
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs) rs1603275179
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs) rs1426528935
NM_032043.3(BRIP1):c.3386_3387del (p.Ser1129fs) rs2144077998
NM_032043.3(BRIP1):c.3387_3388insTT (p.Ile1130fs) rs2061309076
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.3(BRIP1):c.379+1G>A rs1437158047
NM_032043.3(BRIP1):c.379+1G>T rs1437158047
NM_032043.3(BRIP1):c.379+2T>C rs2145825816
NM_032043.3(BRIP1):c.380-1G>C rs2145767071
NM_032043.3(BRIP1):c.507+1G>T rs2145761239
NM_032043.3(BRIP1):c.507+2T>A
NM_032043.3(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.508-2A>C rs876659707
NM_032043.3(BRIP1):c.508-2A>T rs876659707
NM_032043.3(BRIP1):c.627+1G>A rs587780833
NM_032043.3(BRIP1):c.627+2T>A rs2078745026
NM_032043.3(BRIP1):c.628-1G>A rs1219435870
NM_032043.3(BRIP1):c.628-2A>G rs995056553
NM_032043.3(BRIP1):c.628-2A>T rs995056553
NM_032043.3(BRIP1):c.628-2_628-1insACATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTTCTCTACATCCTCTCCAGCTTCTGTTGTTTCCTGACTGTTTAATGATCACCATTCTAACTGGTGTGAGAG
NM_032043.3(BRIP1):c.628-5_629del rs1555609402
NM_032043.3(BRIP1):c.73_93+14del rs2145863122
NM_032043.3(BRIP1):c.918+2790_1121del
NM_032043.3(BRIP1):c.919-1G>A
NM_032043.3(BRIP1):c.93+1G>A rs587782047
NM_032043.3(BRIP1):c.93+1G>T rs587782047
NM_032043.3(BRIP1):c.93+2T>C rs775755739
NM_032043.3(BRIP1):c.93+2del
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.94-1G>A
PALB2:c.2515-1G>T rs587776417
Single allele

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