ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 352
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs) rs80357914 0.00003
NM_007294.4(BRCA1):c.1054G>T (p.Glu352Ter) rs80357472 0.00001
NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter) rs397508838 0.00001
NM_007294.4(BRCA1):c.135-1G>T rs80358158 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064 0.00001
NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter) rs80357355 0.00001
NM_007294.4(BRCA1):c.213-11T>G rs80358061 0.00001
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.302-2del rs273899695 0.00001
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter) rs80357134 0.00001
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter) rs80356989 0.00001
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs) rs80357981 0.00001
NM_007294.4(BRCA1):c.4357+1G>A rs80358027 0.00001
NM_007294.4(BRCA1):c.4485-1G>A rs80358189 0.00001
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter) rs80357437 0.00001
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter) rs80357366 0.00001
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter) rs80357418 0.00001
NM_007294.4(BRCA1):c.514del (p.Gln172fs) rs80357872 0.00001
NM_007294.4(BRCA1):c.5278-1G>C rs80358099 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474 0.00001
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val) rs80357069 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5467+1G>A rs80358145 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter) rs80357629 0.00001
NM_007294.4(BRCA1):c.791_794del (p.Ser264fs) rs80357707 0.00001
NC_000017.10:g.(41197820_41199659)_(41199721_41201137)del
NC_000017.10:g.(41197820_41199659)_(41276133_41277287)del
NC_000017.10:g.(41197820_41199659)_(41277501_?)del
NC_000017.10:g.(41199721_41201137)_(41203135_41209068)del
NC_000017.10:g.(41201212_41203079)_(41203135_41209068)del
NC_000017.10:g.(41203135_41209068)_(41209153_41215349)del
NC_000017.10:g.(41209153_41215349)_(41219713_41222944)del
NC_000017.10:g.(41209153_41215349)_(41277501_?)del
NC_000017.10:g.(41215391_41215890)_(41215969_41219624)del
NC_000017.10:g.(41215969_41219624)_(41226539_41228504)del
NC_000017.10:g.(41219713_41222944)_(41223256_41226347)del
NC_000017.10:g.(41219713_41222944)_(41226539_41228504)del
NC_000017.10:g.(41228632_41234420)_(41234593_41242960)del
NC_000017.10:g.(41228632_41234420)_(41234593_41242960)dup
NC_000017.10:g.(41251898_41256138)_(41258551_41267742)del
NC_000017.10:g.(41256974_41258472)_(41258551_41267742)del
NC_000017.10:g.(41256974_41258472)_(41267797_41276033)del
NC_000017.10:g.(41267797_41276033)_(41277501_?)del
NC_000017.10:g.(?_41196311)_(41199721_41201137)del
NC_000017.10:g.(?_41196311)_(41203135_41209068)del
NC_000017.10:g.(?_41196311)_(41277382_?)del
NC_000017.11:g.(43047704_43049120)_(43049195_43051062)del
NC_000017.11:g.(43051118_43057051)_(43063952_43067607)dup
NC_000017.11:g.(43051118_43057051)_(43076615_43082403)del
NC_000017.11:g.(43057136_43063332)_(43063952_43067607)del
NC_000017.11:g.(43057136_43063332)_(43063952_43067607)dup
NC_000017.11:g.(43063952_43067607)_(43067696_43070927)del
NC_000017.11:g.(43063952_43067607)_(43071239_43074330)del
NC_000017.11:g.(43063952_43067607)_(43076615_43082403)del
NC_000017.11:g.(43071239_43074330)_(43082576_43090943)del
NC_000017.11:g.(43071239_43074330)_(43115780_43124016)del
NC_000017.11:g.(43074522_43076487)_(43076615_43082403)del
NC_000017.11:g.(43082576_43090943)_(43097290_43099774)del
NC_000017.11:g.(43099881_43104121)_(43125484_?)del
NC_000017.11:g.(43106534_43115725)_(43115780_43124016)del
NC_000017.11:g.(43106534_43115725)_(43115780_43124016)dup
NC_000017.11:g.(43115780_43124016)_(43124116_43125270)del
NC_000017.11:g.(?_43044294)_(43045803_43047642)del
NC_000017.11:g.(?_43044294)_(43124116_43125270)del
NC_000017.11:g.(?_43044294)_(43125484_?)del
NM_007294.3(BRCA1):c.4358-?_5277+?del
NM_007294.4(BRCA1):c.1016del (p.Lys339fs) rs80357569
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.4(BRCA1):c.101del (p.Pro34fs) rs80357750
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter) rs80357215
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs) rs80359875
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter) rs80357468
NM_007294.4(BRCA1):c.1141A>T (p.Lys381Ter) rs80357385
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter) rs886040898
NM_007294.4(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.1297del (p.Ala433fs) rs80357794
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1326T>A (p.Cys442Ter) rs397508854
NM_007294.4(BRCA1):c.133_134+3delinsT rs397508856
NM_007294.4(BRCA1):c.1340_1341insG (p.His448fs) rs80357597
NM_007294.4(BRCA1):c.135-1G>A rs80358158
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer) rs80357969
NM_007294.4(BRCA1):c.1374del (p.Asp458fs) rs397508862
NM_007294.4(BRCA1):c.1377_1378del (p.Lys459fs) rs398122633
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs) rs80357714
NM_007294.4(BRCA1):c.1386del (p.Thr464fs) rs80357722
NM_007294.4(BRCA1):c.1389_1390delinsG (p.Thr464fs) rs273897659
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.1432_1441dup (p.Leu481delinsHisTer)
NM_007294.4(BRCA1):c.143del (p.Met48fs) rs80357637
NM_007294.4(BRCA1):c.144del (p.Met48fs) rs80357682
NM_007294.4(BRCA1):c.1462dup (p.Thr488fs) rs80357599
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1508del (p.Lys503fs) rs80357506
NM_007294.4(BRCA1):c.1510del (p.Arg504fs) rs80357908
NM_007294.4(BRCA1):c.1512dup (p.Lys505Ter) rs398122636
NM_007294.4(BRCA1):c.1518del (p.Arg507fs) rs80357947
NM_007294.4(BRCA1):c.1523del (p.Pro508fs) rs80357782
NM_007294.4(BRCA1):c.1556del (p.Lys519fs) rs80357662
NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter) rs142074233
NM_007294.4(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter) rs397508903
NM_007294.4(BRCA1):c.1812del (p.Ala605fs) rs80357927
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs) rs80357585
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs) rs80357516
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.1921dup (p.Ile641fs) rs397507194
NM_007294.4(BRCA1):c.1938_1947del (p.Ser646fs) rs397508920
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.1959_1960delinsG (p.Lys654fs) rs2053853194
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.4(BRCA1):c.1969C>T (p.Gln657Ter) rs397508926
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2001dup (p.Leu668fs) rs80357521
NM_007294.4(BRCA1):c.2019del (p.Glu673fs) rs80357626
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.4(BRCA1):c.2070_2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2075_2076del (p.His692fs) rs397508936
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs) rs80357880
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs) rs80357814
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.212+1G>A rs80358042
NM_007294.4(BRCA1):c.212+1G>C rs80358042
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs) rs80357871
NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys) rs80356913
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2157dup (p.Glu720fs) rs80357715
NM_007294.4(BRCA1):c.2162_2163del (p.Phe721fs) rs1555590319
NM_007294.4(BRCA1):c.2194G>T (p.Glu732Ter) rs80357426
NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter) rs397508949
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter) rs80357234
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter) rs80357574
NM_007294.4(BRCA1):c.2217dup (p.Val740fs) rs80357802
NM_007294.4(BRCA1):c.2241del (p.Asp749fs) rs80357650
NM_007294.4(BRCA1):c.2269del (p.Val757fs) rs80357583
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter) rs80357449
NM_007294.4(BRCA1):c.2296_2297del (p.Glu765_Ser766insTer) rs80357780
NM_007294.4(BRCA1):c.2299del (p.Ser767fs) rs80357786
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.4(BRCA1):c.2341G>T (p.Glu781Ter)
NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs) rs80357695
NM_007294.4(BRCA1):c.2396del (p.Asn799fs) rs886040033
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2443del (p.Ile815fs) rs80357598
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2513del (p.Asn838fs) rs80357863
NM_007294.4(BRCA1):c.2517_2518del (p.His839fs) rs397508974
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.4(BRCA1):c.2568T>G (p.Tyr856Ter) rs80356832
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter) rs80356925
NM_007294.4(BRCA1):c.2611_2612del (p.Pro871fs) rs80357962
NM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs) rs397508986
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs) rs80357636
NM_007294.4(BRCA1):c.2694del (p.Val899fs) rs80357549
NM_007294.4(BRCA1):c.2719_2722del (p.Glu907fs) rs80357731
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer) rs80357540
NM_007294.4(BRCA1):c.2767_2770del (p.Val923fs) rs80357661
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter) rs80357223
NM_007294.4(BRCA1):c.2802del (p.Asp936fs) rs2053694038
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.4(BRCA1):c.280C>T (p.Gln94Ter) rs886037972
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.4(BRCA1):c.2835dup (p.Ile946fs) rs80357519
NM_007294.4(BRCA1):c.2860_2864del (p.Leu954fs) rs1597867185
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter) rs80357295
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_007294.4(BRCA1):c.2868del (p.Gln957fs) rs80357929
NM_007294.4(BRCA1):c.2889_2890del (p.Gly964fs) rs80357890
NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs) rs398122670
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) rs80357115
NM_007294.4(BRCA1):c.2940del (p.Pro981fs) rs80357876
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs) rs80357829
NM_007294.4(BRCA1):c.2999del (p.Glu1000fs) rs80357991
NM_007294.4(BRCA1):c.2T>G (p.Met1Arg) rs80357111
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs) rs80357601
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer) rs80357617
NM_007294.4(BRCA1):c.302-1G>C rs80358116
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs) rs80357510
NM_007294.4(BRCA1):c.303T>G (p.Tyr101Ter) rs80356936
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs) rs80357647
NM_007294.4(BRCA1):c.3096_3098delinsGT (p.Arg1032_Glu1033insTer) rs2154342721
NM_007294.4(BRCA1):c.3108dup (p.Lys1037Ter) rs80357841
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.4(BRCA1):c.3196G>T (p.Glu1066Ter) rs1555588220
NM_007294.4(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer) rs1064793054
NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter) rs80357207
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter) rs80357259
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer) rs80357787
NM_007294.4(BRCA1):c.4163dup (p.Ser1389fs) rs80357788
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4185+2_4185+22delinsA rs273900724
NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=) rs80356857
NM_007294.4(BRCA1):c.4250del (p.Val1417fs) rs587782879
NM_007294.4(BRCA1):c.4253del (p.Val1417_Leu1418insTer) rs2154155295
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4335_4338dup (p.Gln1447fs) rs397509164
NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter) rs80357067
NM_007294.4(BRCA1):c.4379del (p.Ser1460fs) rs786203149
NM_007294.4(BRCA1):c.4382_4388dup (p.Tyr1463Ter) rs1567779838
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) rs273900730
NM_007294.4(BRCA1):c.4392del (p.Pro1464_Ile1465insTer) rs1064793577
NM_007294.4(BRCA1):c.4484+1G>T rs80358063
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter) rs747539984
NM_007294.4(BRCA1):c.4508C>G (p.Ser1503Ter) rs80357437
NM_007294.4(BRCA1):c.4516del (p.Asp1506fs) rs273900736
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter) rs786202631
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4533_4534del (p.His1511fs) rs80357534
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.4(BRCA1):c.45del (p.Asn16fs) rs730881457
NM_007294.4(BRCA1):c.45dup (p.Asn16Ter) rs730881457
NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs) rs80357915
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter) rs80356992
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs) rs80357561
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer) rs80357718
NM_007294.4(BRCA1):c.4768del (p.Val1590fs) rs2153864590
NM_007294.4(BRCA1):c.485_486del (p.Val162fs) rs80357708
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+4A>C rs80358087
NM_007294.4(BRCA1):c.4986+4A>T rs80358087
NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter) rs876658947
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs) rs80357623
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5071dup (p.Thr1691fs) rs80357672
NM_007294.4(BRCA1):c.5074+1G>A rs80358053
NM_007294.4(BRCA1):c.5074+1G>T rs80358053
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs) rs80357760
NM_007294.4(BRCA1):c.5091_5092del (p.Cys1697_Glu1698delinsTer) rs80357710
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter) rs80356974
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) rs80357997
NM_007294.4(BRCA1):c.5152+1G>A rs80358094
NM_007294.4(BRCA1):c.5152+1G>C rs80358094
NM_007294.4(BRCA1):c.5152+5G>A rs80358165
NM_007294.4(BRCA1):c.5153-1G>C rs80358137
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter) rs80357239
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter) rs878854957
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5182del (p.Met1728fs) rs34570933
NM_007294.4(BRCA1):c.5193+1G>T rs80358004
NM_007294.4(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5194-1G>A rs80358173
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.520del (p.Gln174fs) rs80357639
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5239C>T (p.Gln1747Ter) rs80357367
NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter) rs397509247
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5277+1del rs273901754
NM_007294.4(BRCA1):c.5278-1G>T rs80358099
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs) rs587781825
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs) rs80357823
NM_007294.4(BRCA1):c.5332+1G>A rs80358041
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs) rs80357590
NM_007294.4(BRCA1):c.5345G>A (p.Trp1782Ter) rs80357219
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter) rs80356969
NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp) rs786203663
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs) rs879254116
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter) rs80357055
NM_007294.4(BRCA1):c.5398del (p.Gly1801fs) rs1064794662
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys) rs80356929
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5407-1G>C rs80358029
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr) rs80357212
NM_007294.4(BRCA1):c.5468-1G>A rs80358048
NM_007294.4(BRCA1):c.547+1G>T rs80358030
NM_007294.4(BRCA1):c.5476C>T (p.Gln1826Ter) rs587782887
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter) rs80357307
NM_007294.4(BRCA1):c.5533dup (p.Tyr1845fs) rs397509294
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter) rs80356873
NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter) rs397509295
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.697_698del (p.Val233fs) rs80357747
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs) rs80357696
NM_007294.4(BRCA1):c.754del (p.Arg252fs) rs1555593195
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.80+1G>A rs80358010
NM_007294.4(BRCA1):c.81-1G>A rs80358018
NM_007294.4(BRCA1):c.81-2del rs273902791
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.83_84del (p.Leu28fs) rs80357728
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter) rs397509330
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter) rs730881468
NM_007294.4(BRCA1):c.882del (p.Asp295fs) rs80357587
NM_007294.4(BRCA1):c.923del (p.Ser308fs) rs80357953
NM_007294.4(BRCA1):c.928C>T (p.Gln310Ter) rs397509338
NM_007294.4(BRCA1):c.929del (p.Gln310fs) rs80357844
NM_007294.4(BRCA1):c.963G>A (p.Trp321Ter) rs886040335
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772

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