ClinVar Miner

List of variants reported as uncertain significance for breast-ovarian cancer, familial, susceptibility to, 1 by Sharing Clinical Reports Project (SCRP)

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 229
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00008
NM_007294.4(BRCA1):c.1747A>G (p.Lys583Glu) rs80356928 0.00006
NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu) rs397507213 0.00006
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met) rs80357345 0.00005
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00004
NM_007294.4(BRCA1):c.4669G>C (p.Asp1557His) rs80356906 0.00004
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr) rs80357182 0.00003
NM_007294.4(BRCA1):c.2299A>G (p.Ser767Gly) rs80357194 0.00003
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg) rs80357079 0.00003
NM_007294.4(BRCA1):c.5075-6C>A rs397507240 0.00003
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171 0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408 0.00003
NM_007294.4(BRCA1):c.429A>C (p.Glu143Asp) rs397507228 0.00002
NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg) rs80356880 0.00001
NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr) rs80356863 0.00001
NM_007294.4(BRCA1):c.1384G>A (p.Gly462Arg) rs80357221 0.00001
NM_007294.4(BRCA1):c.1448T>C (p.Ile483Thr) rs80357489 0.00001
NM_007294.4(BRCA1):c.1532G>T (p.Gly511Val) rs397507188 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.1898C>T (p.Pro633Leu) rs398122647 0.00001
NM_007294.4(BRCA1):c.1907G>A (p.Cys636Tyr) rs398122649 0.00001
NM_007294.4(BRCA1):c.1920A>T (p.Gln640His) rs587782843 0.00001
NM_007294.4(BRCA1):c.2158G>A (p.Glu720Lys) rs80356875 0.00001
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu) rs80356912 0.00001
NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys) rs80357335 0.00001
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met) rs80357209 0.00001
NM_007294.4(BRCA1):c.2392C>T (p.Pro798Ser) rs398122658 0.00001
NM_007294.4(BRCA1):c.2551G>A (p.Glu851Lys) rs398122662 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_007294.4(BRCA1):c.2706A>C (p.Glu902Asp) rs398122665 0.00001
NM_007294.4(BRCA1):c.290C>G (p.Thr97Arg) rs431825393 0.00001
NM_007294.4(BRCA1):c.3155A>G (p.Asn1052Ser) rs398122672 0.00001
NM_007294.4(BRCA1):c.3169A>G (p.Ser1057Gly) rs80357479 0.00001
NM_007294.4(BRCA1):c.3564G>C (p.Arg1188Ser) rs879255484 0.00001
NM_007294.4(BRCA1):c.3625T>G (p.Leu1209Val) rs273900711 0.00001
NM_007294.4(BRCA1):c.3650C>G (p.Ser1217Cys) rs398122676 0.00001
NM_007294.4(BRCA1):c.3652A>G (p.Ser1218Gly) rs80356894 0.00001
NM_007294.4(BRCA1):c.373A>G (p.Ile125Val) rs587776489 0.00001
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu) rs80357254 0.00001
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly) rs397507225 0.00001
NM_007294.4(BRCA1):c.4417T>C (p.Ser1473Pro) rs398122686 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.5074+5A>T rs431825411 0.00001
NM_007294.4(BRCA1):c.5129G>A (p.Gly1710Glu) rs398122691 0.00001
NM_007294.4(BRCA1):c.5153-3T>C rs375639469 0.00001
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu) rs398122695 0.00001
NM_007294.4(BRCA1):c.548-18T>G rs397507251 0.00001
NM_007294.4(BRCA1):c.548-3T>C rs397507252 0.00001
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln) rs273902776 0.00001
NM_007294.4(BRCA1):c.5566C>T (p.Pro1856Ser) rs80357274 0.00001
NM_007294.4(BRCA1):c.659C>G (p.Ser220Cys) rs431825418 0.00001
NM_007294.4(BRCA1):c.925A>G (p.Lys309Glu) rs879255498 0.00001
NM_007294.4(BRCA1):c.988G>A (p.Asp330Asn) rs397507259 0.00001
NM_007294.4(BRCA1):c.-13G>A rs431825383
NM_007294.4(BRCA1):c.-19-8T>C rs398122626
NM_007294.4(BRCA1):c.1001C>A (p.Pro334His) rs41286290
NM_007294.4(BRCA1):c.1033G>T (p.Asp345Tyr) rs80356961
NM_007294.4(BRCA1):c.1202G>A (p.Gly401Glu) rs397507184
NM_007294.4(BRCA1):c.1202G>C (p.Gly401Ala) rs397507184
NM_007294.4(BRCA1):c.1234G>A (p.Val412Ile) rs587776478
NM_007294.4(BRCA1):c.124A>G (p.Ile42Val) rs80357163
NM_007294.4(BRCA1):c.1256T>G (p.Val419Gly) rs398122628
NM_007294.4(BRCA1):c.1295T>C (p.Leu432Pro) rs369394098
NM_007294.4(BRCA1):c.135-15C>G rs397507185
NM_007294.4(BRCA1):c.135-8dup rs397507186
NM_007294.4(BRCA1):c.1379T>G (p.Ile460Arg) rs398122634
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr) rs397507187
NM_007294.4(BRCA1):c.142A>G (p.Met48Val) rs879255477
NM_007294.4(BRCA1):c.1460T>C (p.Val487Ala) rs748812609
NM_007294.4(BRCA1):c.1514A>T (p.Lys505Ile) rs879254266
NM_007294.4(BRCA1):c.1523C>T (p.Pro508Leu) rs398122637
NM_007294.4(BRCA1):c.1564G>A (p.Asp522Asn) rs80357453
NM_007294.4(BRCA1):c.1607C>G (p.Thr536Ser) rs398122638
NM_007294.4(BRCA1):c.160C>A (p.Gln54Lys) rs80356864
NM_007294.4(BRCA1):c.161A>G (p.Gln54Arg) rs397507189
NM_007294.4(BRCA1):c.1672A>C (p.Lys558Gln) rs397507190
NM_007294.4(BRCA1):c.1690A>T (p.Asn564Tyr) rs397507191
NM_007294.4(BRCA1):c.1799T>G (p.Ile600Ser) rs398122643
NM_007294.4(BRCA1):c.1826A>G (p.Asn609Ser) rs80357236
NM_007294.4(BRCA1):c.1828A>G (p.Arg610Gly) rs398122644
NM_007294.4(BRCA1):c.1844C>T (p.Ser615Phe) rs398122645
NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys) rs80357005
NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly) rs80357105
NM_007294.4(BRCA1):c.1975C>G (p.Pro659Ala) rs587776481
NM_007294.4(BRCA1):c.199G>A (p.Asp67Asn) rs80357102
NM_007294.4(BRCA1):c.2081G>A (p.Ser694Asn) rs431825388
NM_007294.4(BRCA1):c.212+4T>A rs398122652
NM_007294.4(BRCA1):c.2123C>T (p.Ser708Phe) rs80357182
NM_007294.4(BRCA1):c.216C>A (p.Ser72Arg) rs80356967
NM_007294.4(BRCA1):c.2281G>A (p.Glu761Lys) rs397507198
NM_007294.4(BRCA1):c.2296A>G (p.Ser766Gly) rs398122655
NM_007294.4(BRCA1):c.2299A>T (p.Ser767Cys) rs80357194
NM_007294.4(BRCA1):c.2302A>G (p.Ser768Gly) rs398122656
NM_007294.4(BRCA1):c.2338C>G (p.Gln780Glu) rs80356945
NM_007294.4(BRCA1):c.2342A>C (p.Glu781Ala) rs587776482
NM_007294.4(BRCA1):c.2389G>A (p.Glu797Lys) rs62625306
NM_007294.4(BRCA1):c.2423T>C (p.Phe808Ser) rs398122660
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly) rs397507201
NM_007294.4(BRCA1):c.2456C>G (p.Ser819Cys) rs192655097
NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp) rs397508970
NM_007294.4(BRCA1):c.2648C>T (p.Ala883Val) rs431825391
NM_007294.4(BRCA1):c.2702T>C (p.Phe901Ser) rs397507202
NM_007294.4(BRCA1):c.2714A>G (p.Gln905Arg) rs397507203
NM_007294.4(BRCA1):c.2732G>A (p.Gly911Glu) rs431825392
NM_007294.4(BRCA1):c.2746A>T (p.Asn916Tyr) rs398122666
NM_007294.4(BRCA1):c.2754G>T (p.Lys918Asn) rs398122668
NM_007294.4(BRCA1):c.2798G>A (p.Gly933Asp) rs80356941
NM_007294.4(BRCA1):c.2917C>G (p.Leu973Val) rs80357080
NM_007294.4(BRCA1):c.2967T>A (p.Phe989Leu) rs876659270
NM_007294.4(BRCA1):c.2980T>A (p.Cys994Ser) rs144853230
NM_007294.4(BRCA1):c.3041T>C (p.Met1014Thr) rs80357020
NM_007294.4(BRCA1):c.3048T>G (p.Asn1016Lys) rs879255482
NM_007294.4(BRCA1):c.3151A>G (p.Thr1051Ala) rs398122671
NM_007294.4(BRCA1):c.3170G>A (p.Ser1057Asn) rs587776487
NM_007294.4(BRCA1):c.3178G>C (p.Glu1060Gln) rs80357424
NM_007294.4(BRCA1):c.3185G>T (p.Gly1062Val) rs397507211
NM_007294.4(BRCA1):c.3209C>G (p.Ala1070Gly) rs397507212
NM_007294.4(BRCA1):c.3354G>T (p.Gln1118His) rs80357334
NM_007294.4(BRCA1):c.3406C>A (p.Pro1136Thr) rs431825395
NM_007294.4(BRCA1):c.3433G>T (p.Val1145Phe) rs431825396
NM_007294.4(BRCA1):c.3437G>A (p.Cys1146Tyr) rs80357247
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp) rs587779368
NM_007294.4(BRCA1):c.3581C>T (p.Thr1194Ile) rs80357290
NM_007294.4(BRCA1):c.3642G>T (p.Glu1214Asp) rs398122675
NM_007294.4(BRCA1):c.3713C>G (p.Pro1238Arg) rs28897688
NM_007294.4(BRCA1):c.3720G>C (p.Gln1240His) rs876658341
NM_007294.4(BRCA1):c.3736A>G (p.Thr1246Ala) rs587776488
NM_007294.4(BRCA1):c.3774G>T (p.Glu1258Asp) rs431825399
NM_007294.4(BRCA1):c.3782T>C (p.Leu1261Ser) rs397507219
NM_007294.4(BRCA1):c.3798C>G (p.Ser1266Arg) rs200648498
NM_007294.4(BRCA1):c.3869A>C (p.Lys1290Thr) rs431825401
NM_007294.4(BRCA1):c.3877G>C (p.Ala1293Pro) rs397507223
NM_007294.4(BRCA1):c.3878C>T (p.Ala1293Val) rs80357213
NM_007294.4(BRCA1):c.3897G>T (p.Gln1299His) rs398122678
NM_007294.4(BRCA1):c.389A>G (p.Tyr130Cys) rs56055578
NM_007294.4(BRCA1):c.3903T>A (p.Ser1301Arg) rs273900719
NM_007294.4(BRCA1):c.3914A>T (p.Asp1305Val) rs431825402
NM_007294.4(BRCA1):c.3955G>A (p.Gly1319Ser) rs431825403
NM_007294.4(BRCA1):c.4075C>G (p.Gln1359Glu) rs80357456
NM_007294.4(BRCA1):c.4083G>A (p.Met1361Ile) rs374192364
NM_007294.4(BRCA1):c.4088C>T (p.Ser1363Leu) rs398122680
NM_007294.4(BRCA1):c.4096G>A (p.Gly1366Ser) rs431825405
NM_007294.4(BRCA1):c.4097-18C>A rs879255486
NM_007294.4(BRCA1):c.4186-3A>G rs398122683
NM_007294.4(BRCA1):c.4219C>G (p.Leu1407Val) rs397507227
NM_007294.4(BRCA1):c.4272G>C (p.Gln1424His) rs398122684
NM_007294.4(BRCA1):c.4273C>T (p.Pro1425Ser) rs768327850
NM_007294.4(BRCA1):c.4357+6T>C rs80358143
NM_007294.4(BRCA1):c.4402A>G (p.Asn1468Asp) rs80357022
NM_007294.4(BRCA1):c.4454C>T (p.Thr1485Ile) rs80356870
NM_007294.4(BRCA1):c.4456A>T (p.Ser1486Cys) rs397507232
NM_007294.4(BRCA1):c.4460A>G (p.Lys1487Arg) rs80357126
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.457A>G (p.Ser153Gly) rs28897674
NM_007294.4(BRCA1):c.4589A>C (p.Lys1530Thr) rs398122689
NM_007294.4(BRCA1):c.4657T>A (p.Leu1553Met) rs80357431
NM_007294.4(BRCA1):c.4777A>G (p.Ile1593Val) rs397509197
NM_007294.4(BRCA1):c.4807_4821del (p.Pro1603_Val1607del) rs80359888
NM_007294.4(BRCA1):c.4987A>T (p.Met1663Leu) rs80357117
NM_007294.4(BRCA1):c.5050A>C (p.Thr1684Pro) rs879255491
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5075A>T (p.Asp1692Val) rs397509222
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp) rs863224763
NM_007294.4(BRCA1):c.5114T>C (p.Leu1705Pro) rs397507242
NM_007294.4(BRCA1):c.5122G>A (p.Ala1708Thr) rs397507243
NM_007294.4(BRCA1):c.5191G>A (p.Glu1731Lys) rs397507244
NM_007294.4(BRCA1):c.5197G>A (p.Asp1733Asn) rs398122693
NM_007294.4(BRCA1):c.5205A>T (p.Glu1735Asp) rs431825412
NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys) rs397507245
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5254G>A (p.Ala1752Thr) rs80357074
NM_007294.4(BRCA1):c.5276A>G (p.Lys1759Arg) rs431825415
NM_007294.4(BRCA1):c.5277+4A>G rs397509251
NM_007294.4(BRCA1):c.5285G>T (p.Arg1762Met) rs398122694
NM_007294.4(BRCA1):c.5302T>G (p.Cys1768Gly) rs431825416
NM_007294.4(BRCA1):c.5318C>T (p.Thr1773Ile) rs80357428
NM_007294.4(BRCA1):c.5330C>T (p.Thr1777Ile) rs398122696
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg) rs80357474
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5390C>T (p.Ser1797Leu) rs879255492
NM_007294.4(BRCA1):c.5401G>A (p.Gly1801Ser) rs587776492
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_007294.4(BRCA1):c.5407-10G>A rs273901767
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala) rs80357149
NM_007294.4(BRCA1):c.5425_5430del (p.Val1809_Val1810del) rs80358348
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg) rs80357040
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser) rs398122698
NM_007294.4(BRCA1):c.5473G>A (p.Gly1825Arg) rs398122700
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro) rs80356996
NM_007294.4(BRCA1):c.5565_5573del (p.Gln1857_Pro1859del) rs397507253
NM_007294.4(BRCA1):c.5571_5579del (p.Gln1857_Pro1859del) rs775417240
NM_007294.4(BRCA1):c.607G>A (p.Glu203Lys) rs398122703
NM_007294.4(BRCA1):c.617A>C (p.Gln206Pro) rs879255494
NM_007294.4(BRCA1):c.646A>G (p.Ile216Val) rs398122704
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.665A>G (p.Lys222Arg) rs398122705
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr) rs431825419
NM_007294.4(BRCA1):c.671-1G>C rs80358020
NM_007294.4(BRCA1):c.695A>T (p.Asp232Val) rs398122708
NM_007294.4(BRCA1):c.745A>T (p.Thr249Ser) rs397507256
NM_007294.4(BRCA1):c.754C>T (p.Arg252Cys) rs273902786
NM_007294.4(BRCA1):c.827C>A (p.Thr276Lys) rs80357436
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro) rs80357266
NM_007294.4(BRCA1):c.861CAG[1] (p.Ser289del) rs879255497
NM_007294.4(BRCA1):c.889A>G (p.Met297Val) rs80357196
NM_007294.4(BRCA1):c.890T>A (p.Met297Lys) rs80356924
NM_007294.4(BRCA1):c.956A>G (p.Asn319Ser) rs397507258
NM_007294.4(BRCA1):c.964G>A (p.Ala322Thr) rs80357252
NM_007294.4(BRCA1):c.998C>T (p.Thr333Ile) rs431825420
NP_009225.1(BRCA1):p.Arg1645Ser
NP_009225.1(BRCA1):p.Lys970Asn
NP_009225.1(BRCA1):p.Ser316Arg
NP_009225.1(BRCA1):p.Trp1718Cys

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