ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 188
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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.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
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.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.4097-2A>G rs80358019 0.00001
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter) rs80357437 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile) rs80357043 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.5278-1G>C rs80358099 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
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
NG_005905.2:g.152940_163021dup
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
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.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.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.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.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.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.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.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.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.2110_2111del (p.Asn704fs) rs80357814
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
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.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.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.329dup (p.Glu111fs) rs80357604
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.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>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4358-1729_4986+736dup
NM_007294.4(BRCA1):c.4391del (p.Pro1464fs) rs80357916
NM_007294.4(BRCA1):c.441+249_594-535del
NM_007294.4(BRCA1):c.4410del (p.Gly1471fs)
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.45dup (p.Asn16Ter) rs730881457
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4676-1528_4986+792del
NM_007294.4(BRCA1):c.4676-2A>C rs80358096
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.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.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5030_5033dup (p.Asn1678_Leu1679insTer) rs80357580
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) rs80357133
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.5153-1G>C rs80358137
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter) rs80357239
NM_007294.4(BRCA1):c.5157del (p.Thr1720fs)
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.5213_5278-2753delinsT
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
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.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.5468-364_*630del
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter) rs80356914
NM_007294.4(BRCA1):c.5553dup (p.Thr1852fs) rs397509297
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
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.798_799del (p.Ser267fs) rs80357724
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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