ClinVar Miner

List of variants in gene BRCA1 reported by BRCAlab, Lund University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 320
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_007294.4(BRCA1):c.5277+48_5277+59dup rs572766355 0.00187
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00017
NM_007294.4(BRCA1):c.81-65G>C rs80358117 0.00016
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn) rs55975699 0.00011
NM_007294.4(BRCA1):c.594-34T>C rs147314539 0.00010
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00008
NM_007294.4(BRCA1):c.5467+8G>A rs80358062 0.00007
NM_007294.4(BRCA1):c.593+3G>A rs80358013 0.00007
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770 0.00006
NM_007294.4(BRCA1):c.135-3T>C rs759417413 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.301+7G>A rs80358113 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955 0.00004
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457 0.00004
NM_007294.4(BRCA1):c.4676-8C>G rs80358021 0.00004
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr) rs80357182 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg) rs28897674 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe) rs80357394 0.00003
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys) rs397508902 0.00002
NM_007294.4(BRCA1):c.3041T>A (p.Met1014Lys) rs80357020 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln) rs80357264 0.00002
NM_007294.4(BRCA1):c.5332+4A>G rs80358166 0.00002
NM_007294.4(BRCA1):c.1030G>A (p.Ala344Thr) rs79727659 0.00001
NM_007294.4(BRCA1):c.1349A>G (p.Lys450Arg) rs778668550 0.00001
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964 0.00001
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys) rs80357445 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.1793T>G (p.Leu598Ter) rs80357118 0.00001
NM_007294.4(BRCA1):c.1840A>T (p.Lys614Ter) rs80357282 0.00001
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser) rs80356902 0.00001
NM_007294.4(BRCA1):c.20G>A (p.Arg7His) rs144792613 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.2609C>T (p.Ala870Val) rs1060502324 0.00001
NM_007294.4(BRCA1):c.2963C>T (p.Ser988Leu) rs397507206 0.00001
NM_007294.4(BRCA1):c.375C>T (p.Ile125=) rs1311672121 0.00001
NM_007294.4(BRCA1):c.4097-2A>G rs80358019 0.00001
NM_007294.4(BRCA1):c.4241T>C (p.Leu1414Pro) rs878854951 0.00001
NM_007294.4(BRCA1):c.4315C>T (p.Leu1439Phe) rs781260818 0.00001
NM_007294.4(BRCA1):c.4357+14G>T rs760989937 0.00001
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter) rs80357437 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.4730C>A (p.Ser1577Tyr) rs273901741 0.00001
NM_007294.4(BRCA1):c.4841C>T (p.Pro1614Leu) rs766305255 0.00001
NM_007294.4(BRCA1):c.4989G>T (p.Met1663Ile) rs748807039 0.00001
NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile) rs80357043 0.00001
NM_007294.4(BRCA1):c.5074+16T>C rs746775027 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.5193+58A>G rs1297237971 0.00001
NM_007294.4(BRCA1):c.5278-1G>C rs80358099 0.00001
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser) rs80357286 0.00001
NM_007294.4(BRCA1):c.5467+1G>A rs80358145 0.00001
NM_007294.4(BRCA1):c.5477A>T (p.Gln1826Leu) rs730881499 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.564A>G (p.Glu188=) rs768065826 0.00001
NM_007294.4(BRCA1):c.835C>T (p.His279Tyr) rs1380919500 0.00001
NC_000017.10:g.41184601_41203860del
NC_000017.10:g.41189111_41217097del
NC_000017.10:g.41189424_41200475del
NC_000017.10:g.41190710_41208488del
NC_000017.10:g.41230031_41253797del
NC_000017.10:g.41254111_41264129del
NC_000017.10:g.41263509_41273671del
NC_000017.11:g.43041660_43046086delinsCTGTG
NC_000017.11:g.43123461_43130816dup
NG_005905.2:g.152940_163021dup
NM_007294.4(BRCA1):c.*58C>T rs137892861
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.4(BRCA1):c.104T>C (p.Val35Ala) rs1235706456
NM_007294.4(BRCA1):c.1058G>A (p.Trp353Ter) rs80356908
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter) rs80356935
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.1116G>A (p.Trp372Ter) rs80357468
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu) rs80357253
NM_007294.4(BRCA1):c.1252G>T (p.Glu418Ter) rs80357083
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.134+2T>G rs80358131
NM_007294.4(BRCA1):c.135-8dup rs397507186
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer) rs80357969
NM_007294.4(BRCA1):c.1369G>T (p.Glu457Ter) rs2154451153
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs) rs80357714
NM_007294.4(BRCA1):c.143T>C (p.Met48Thr) rs1230532866
NM_007294.4(BRCA1):c.1462dup (p.Thr488fs) rs80357599
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter) rs80357427
NM_007294.4(BRCA1):c.1543G>T (p.Glu515Ter) rs886037990
NM_007294.4(BRCA1):c.1556del (p.Lys519fs) rs80357662
NM_007294.4(BRCA1):c.1568del (p.Leu523fs) rs1555591543
NM_007294.4(BRCA1):c.1571C>T (p.Ala524Val) rs80357333
NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter) rs142074233
NM_007294.4(BRCA1):c.160C>T (p.Gln54Ter) rs80356864
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.4(BRCA1):c.1675G>A (p.Gly559Ser) rs1555591384
NM_007294.4(BRCA1):c.1689_1690delinsCCCC (p.Gln563fs)
NM_007294.4(BRCA1):c.1707_1716del (p.Pro570fs)
NM_007294.4(BRCA1):c.1772del (p.Ile591fs) rs80357901
NM_007294.4(BRCA1):c.1795_1798del (p.Asn599fs) rs886039968
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del) rs587781614
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.1895G>A (p.Ser632Asn) rs80356983
NM_007294.4(BRCA1):c.190T>A (p.Cys64Ser) rs80357064
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
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.1978G>A (p.Val660Ile) rs876660889
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2017G>T (p.Glu673Ter) rs80357391
NM_007294.4(BRCA1):c.2019del (p.Glu673fs) rs80357626
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
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.2120G>C (p.Gly707Ala)
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2174del (p.Ser725fs) rs397508944
NM_007294.4(BRCA1):c.2184del (p.Glu729fs)
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter) rs80357234
NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs) rs80357654
NM_007294.4(BRCA1):c.2269del (p.Val757fs) rs80357583
NM_007294.4(BRCA1):c.2283_2284del (p.Arg762fs) rs80357657
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.2389_2390del (p.Glu797fs) rs80357695
NM_007294.4(BRCA1):c.2393del (p.Pro798fs) rs80357850
NM_007294.4(BRCA1):c.2403del (p.Cys801fs)
NM_007294.4(BRCA1):c.2453del (p.Cys818fs)
NM_007294.4(BRCA1):c.2492A>G (p.Tyr831Cys)
NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter) rs397508983
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter) rs886038001
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter) rs80356925
NM_007294.4(BRCA1):c.260T>A (p.Leu87Ter) rs886040054
NM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs) rs397508986
NM_007294.4(BRCA1):c.2670del (p.Ser891fs) rs80357659
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs) rs80357636
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter) rs80357223
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.4(BRCA1):c.2808_2809del (p.Asp936fs)
NM_007294.4(BRCA1):c.2882del (p.Asn961fs) rs886040082
NM_007294.4(BRCA1):c.2898del (p.Thr967fs) rs886038005
NM_007294.4(BRCA1):c.2903C>A (p.Pro968Gln)
NM_007294.4(BRCA1):c.2906_2908delinsCT (p.Asn969fs) rs886040084
NM_007294.4(BRCA1):c.290_291del (p.Thr97fs) rs80357738
NM_007294.4(BRCA1):c.2910del (p.Lys970fs) rs80357893
NM_007294.4(BRCA1):c.2921T>A (p.Leu974Ter) rs80356872
NM_007294.4(BRCA1):c.2947del (p.Leu983fs) rs876659108
NM_007294.4(BRCA1):c.2982dup (p.Lys995Ter)
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer) rs80357617
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.4(BRCA1):c.303T>A (p.Tyr101Ter) rs80356936
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs) rs80357856
NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter) rs80357004
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs) rs80357647
NM_007294.4(BRCA1):c.30del (p.Val11fs)
NM_007294.4(BRCA1):c.3136G>T (p.Glu1046Ter) rs1555588329
NM_007294.4(BRCA1):c.3143del (p.Gly1048fs) rs886040100
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.4(BRCA1):c.3182del (p.Ile1061fs) rs886040101
NM_007294.4(BRCA1):c.31G>C (p.Val11Leu) rs1555601019
NM_007294.4(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.4(BRCA1):c.364G>T (p.Val122Phe)
NM_007294.4(BRCA1):c.406del (p.Arg136fs) rs80357709
NM_007294.4(BRCA1):c.4123G>T (p.Glu1375Ter) rs80357397
NM_007294.4(BRCA1):c.4158_4162del (p.Ser1387fs) rs397509142
NM_007294.4(BRCA1):c.4162C>T (p.Gln1388Ter) rs876660601
NM_007294.4(BRCA1):c.4163A>G (p.Gln1388Arg) rs1246721860
NM_007294.4(BRCA1):c.4185+11TG[7] rs273900723
NM_007294.4(BRCA1):c.4186-1787_4358-1668dup
NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter) rs80357011
NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter) rs397509151
NM_007294.4(BRCA1):c.4217dup (p.Leu1407fs) rs2154159696
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter) rs80357305
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4284_4285delinsG (p.Ser1428fs) rs886040221
NM_007294.4(BRCA1):c.4285dup (p.Tyr1429fs) rs1555584118
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4358-1729_4986+736dup
NM_007294.4(BRCA1):c.4358-2717G>A
NM_007294.4(BRCA1):c.4391del (p.Pro1464fs) rs80357916
NM_007294.4(BRCA1):c.441+13G>A rs1057520408
NM_007294.4(BRCA1):c.441+249_594-535del
NM_007294.4(BRCA1):c.4410del (p.Gly1471fs)
NM_007294.4(BRCA1):c.442-7T>A rs886040909
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.4495dup (p.Ser1499fs)
NM_007294.4(BRCA1):c.4508C>G (p.Ser1503Ter) rs80357437
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4567_4568dup (p.Ser1524fs)
NM_007294.4(BRCA1):c.4597G>T (p.Asp1533Tyr) rs899108857
NM_007294.4(BRCA1):c.45dup (p.Asn16Ter) rs730881457
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.4676-1528_4986+792del
NM_007294.4(BRCA1):c.4676-2A>C rs80358096
NM_007294.4(BRCA1):c.4676A>T (p.Glu1559Val) rs2153902423
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4745del (p.Asp1582fs) rs80357907
NM_007294.4(BRCA1):c.4842_4845dup (p.Ala1616fs)
NM_007294.4(BRCA1):c.4885dup (p.Glu1629fs) rs886040254
NM_007294.4(BRCA1):c.4897A>G (p.Ser1633Gly) rs1555580711
NM_007294.4(BRCA1):c.4942A>T (p.Lys1648Ter) rs747694453
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.4987-16T>G
NM_007294.4(BRCA1):c.49G>C (p.Ala17Pro) rs1402064476
NM_007294.4(BRCA1):c.5002T>G (p.Phe1668Val) rs587781472
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5030_5033dup (p.Asn1678_Leu1679insTer) rs80357580
NM_007294.4(BRCA1):c.5041A>C (p.Thr1681Pro) rs876659314
NM_007294.4(BRCA1):c.5056C>G (p.His1686Asp) rs1555579648
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) rs80357133
NM_007294.4(BRCA1):c.5073A>T (p.Thr1691=) rs80356853
NM_007294.4(BRCA1):c.5074+1G>A rs80358053
NM_007294.4(BRCA1):c.5075-1461_5194-2073dup
NM_007294.4(BRCA1):c.5075-2A>C rs80358066
NM_007294.4(BRCA1):c.5084_5091del (p.Glu1694_Phe1695insTer)
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg) rs80357222
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter) rs80356947
NM_007294.4(BRCA1):c.5152+1G>T rs80358094
NM_007294.4(BRCA1):c.5152+5G>C rs80358165
NM_007294.4(BRCA1):c.5153-1G>C rs80358137
NM_007294.4(BRCA1):c.5153-40T>C
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter) rs80357239
NM_007294.4(BRCA1):c.5157del (p.Thr1720fs)
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.4(BRCA1):c.5173G>T (p.Glu1725Ter) rs80357291
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5185C>T (p.Leu1729=) rs1207677103
NM_007294.4(BRCA1):c.5193+20A>G rs1567768516
NM_007294.4(BRCA1):c.5193+39_5193+42del
NM_007294.4(BRCA1):c.5193G>A (p.Glu1731=) rs876660702
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5213_5278-2753delinsT
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5275_5276delinsTG (p.Lys1759Trp) rs786204116
NM_007294.4(BRCA1):c.5277+1_5277+6del rs1060502356
NM_007294.4(BRCA1):c.5278-2del rs878853285
NM_007294.4(BRCA1):c.5278-502_*756del
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.4(BRCA1):c.5332+2T>A rs80358182
NM_007294.4(BRCA1):c.5332+32C>T
NM_007294.4(BRCA1):c.5333-36_5406+400del rs1555574977
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs) rs80357590
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5406+398_5468-803del
NM_007294.4(BRCA1):c.5407-1G>A rs80358029
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.5465del (p.His1822fs)
NM_007294.4(BRCA1):c.5468-2A>G rs398122699
NM_007294.4(BRCA1):c.5468-364_*630del
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.548-11A>T
NM_007294.4(BRCA1):c.548-34T>C rs1442560766
NM_007294.4(BRCA1):c.5488G>A (p.Ala1830Thr) rs80357393
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter) rs80356914
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.5553dup (p.Thr1852fs) rs397509297
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.4(BRCA1):c.5578del (p.His1860fs) rs397507254
NM_007294.4(BRCA1):c.638G>T (p.Arg213Met)
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.671-1G>A rs80358020
NM_007294.4(BRCA1):c.67G>C (p.Glu23Gln) rs372047427
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.766A>T (p.Arg256Trp) rs587781833
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.80+15G>C rs771594437
NM_007294.4(BRCA1):c.80+5G>A rs80358045
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.81-1588_134+1725del
NM_007294.4(BRCA1):c.81-1G>A rs80358018
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.848_850delinsAAG (p.Leu283_Gln284delinsTer)
NM_007294.4(BRCA1):c.915del (p.Phe304_Cys305insTer)
NM_007294.4(BRCA1):c.928C>T (p.Gln310Ter) rs397509338
NM_007294.4(BRCA1):c.930del (p.Gln310fs) rs80357689
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
Single allele

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