ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic for Hereditary cancer-predisposing syndrome

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Gene type:
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Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg) rs80356880 0.00001
NM_007294.4(BRCA1):c.4097-2A>G rs80358019 0.00001
NM_007294.4(BRCA1):c.4185+4105C>T rs1597853155 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_007294.3(BRCA1):c.5193+3_5193+15del rs273901752
NM_007294.3(BRCA1):c.5408delG
NM_007294.3:c.(134+1_135-1)_(593+1_594-1)dup
NM_007294.3:c.(4986+1_4987-1)_(5074+1_5075-1)dup
NM_007294.3:c.1569_1570insSVA
NM_007294.3:c.2692_2693insALU
NM_007294.4(BRCA1):c.100C>T (p.Pro34Ser) rs1064793357
NM_007294.4(BRCA1):c.101C>G (p.Pro34Arg) rs786203319
NM_007294.4(BRCA1):c.101C>T (p.Pro34Leu) rs786203319
NM_007294.4(BRCA1):c.1095del (p.Asp366fs) rs2154476432
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.4(BRCA1):c.121C>A (p.His41Asn) rs1060502353
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr) rs1060502353
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.132C>T (p.Cys44=) rs876658362
NM_007294.4(BRCA1):c.134+1G>T rs80358043
NM_007294.4(BRCA1):c.134+3_134+6del rs397508858
NM_007294.4(BRCA1):c.135-1G>A rs80358158
NM_007294.4(BRCA1):c.1399_1453dup (p.Ala485delinsGluGluGlyLysProProGlnLeuLysProCysAsnTer) rs2053936273
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.1499del (p.Asn500fs) rs397508874
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.4(BRCA1):c.208_212+22del rs1555597152
NM_007294.4(BRCA1):c.211A>T (p.Arg71Trp) rs80357382
NM_007294.4(BRCA1):c.212+1del rs786203526
NM_007294.4(BRCA1):c.212+2T>C rs80358026
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met) rs80356913
NM_007294.4(BRCA1):c.213-7A>G rs2054700180
NM_007294.4(BRCA1):c.231G>T (p.Thr77=) rs80356847
NM_007294.4(BRCA1):c.247G>T (p.Val83Phe) rs1060502343
NM_007294.4(BRCA1):c.25del (p.Glu9fs) rs2154578048
NM_007294.4(BRCA1):c.284T>C (p.Leu95Pro) rs2054675041
NM_007294.4(BRCA1):c.2857del (p.Cys953fs) rs397509019
NM_007294.4(BRCA1):c.286G>C (p.Asp96His) rs80357110
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.302-1G>A rs80358116
NM_007294.4(BRCA1):c.302-1G>C rs80358116
NM_007294.4(BRCA1):c.302-1G>T rs80358116
NM_007294.4(BRCA1):c.302-2A>C rs80358011
NM_007294.4(BRCA1):c.302-2A>G rs80358011
NM_007294.4(BRCA1):c.32T>G (p.Val11Gly) rs80357017
NM_007294.4(BRCA1):c.4097-1G>A rs80358070
NM_007294.4(BRCA1):c.4097-20_4134del rs2053440925
NM_007294.4(BRCA1):c.4116_4117del (p.Cys1372_Glu1373delinsTer) rs80357804
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His) rs80356857
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr) rs273900729
NM_007294.4(BRCA1):c.4297del (p.Ile1432_Ile1433insTer) rs2154151012
NM_007294.4(BRCA1):c.4357+1G>C rs80358027
NM_007294.4(BRCA1):c.4357+2T>G rs80358152
NM_007294.4(BRCA1):c.441+1G>A rs397509172
NM_007294.4(BRCA1):c.441+1G>C
NM_007294.4(BRCA1):c.441+2T>A rs397509173
NM_007294.4(BRCA1):c.441+2T>C rs397509173
NM_007294.4(BRCA1):c.4484+5G>T rs886040910
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.4526del (p.Tyr1509fs) rs2154020080
NM_007294.4(BRCA1):c.4675+3A>T rs80358082
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.4676-1G>A rs80358008
NM_007294.4(BRCA1):c.4676-1G>C rs80358008
NM_007294.4(BRCA1):c.4676-2A>G rs80358096
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.4970T>C (p.Leu1657Pro) rs1597830263
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.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.4987-1G>C rs730881495
NM_007294.4(BRCA1):c.4987-2A>C rs397509212
NM_007294.4(BRCA1):c.4987-2A>G rs397509212
NM_007294.4(BRCA1):c.4987-3C>A rs397509213
NM_007294.4(BRCA1):c.4987-5T>A rs397509214
NM_007294.4(BRCA1):c.4987-6T>A rs2052193063
NM_007294.4(BRCA1):c.4987-7A>G rs1025136518
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser) rs1567772408
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.4(BRCA1):c.5054_5074+3del
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.4(BRCA1):c.5066T>A (p.Met1689Lys) rs80357061
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg) rs80357034
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5074+3A>T rs80358181
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5075-1G>T rs1800747
NM_007294.4(BRCA1):c.5075-2del rs886040913
NM_007294.4(BRCA1):c.5075-8T>G rs397509221
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.5099C>T (p.Thr1700Ile) rs2051927197
NM_007294.4(BRCA1):c.5104A>C (p.Lys1702Gln) rs2051925024
NM_007294.4(BRCA1):c.5105A>T (p.Lys1702Ile) rs2051924695
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_007294.4(BRCA1):c.5114T>C (p.Leu1705Pro) rs397507242
NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg) rs886040864
NM_007294.4(BRCA1):c.5116G>C (p.Gly1706Arg) rs886040864
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5137G>T (p.Val1713Leu) rs1064793309
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe) rs1567769244
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg) rs80357094
NM_007294.4(BRCA1):c.5152+2T>C rs886040914
NM_007294.4(BRCA1):c.5152+4A>G rs397509232
NM_007294.4(BRCA1):c.5152+5G>A rs80358165
NM_007294.4(BRCA1):c.5152+5G>T rs80358165
NM_007294.4(BRCA1):c.5152+6T>C rs80358074
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly) rs1567769155
NM_007294.4(BRCA1):c.5153-16_5156delinsAATA rs587781526
NM_007294.4(BRCA1):c.5153-2A>G rs786202545
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5156T>G (p.Val1719Gly) rs1247437511
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr) rs80357104
NM_007294.4(BRCA1):c.5194-2A>C rs80358069
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile) rs80356957
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu) rs869320780
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly) rs45553935
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del) rs80358347
NM_007294.4(BRCA1):c.5215G>C (p.Asp1739His) rs80357283
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5217T>G (p.Asp1739Glu) rs80357340
NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp) rs80357146
NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg) rs397507245
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.5252G>C (p.Arg1751Pro) rs80357442
NM_007294.4(BRCA1):c.5254G>A (p.Ala1752Thr) rs80357074
NM_007294.4(BRCA1):c.5277+1_5277+6del rs1060502356
NM_007294.4(BRCA1):c.5277+1del rs273901754
NM_007294.4(BRCA1):c.5277+2T>G rs2051494815
NM_007294.4(BRCA1):c.5278-2A>G rs397509253
NM_007294.4(BRCA1):c.5278-2A>T rs397509253
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.4(BRCA1):c.5288G>T (p.Gly1763Val) rs80357007
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs) rs587781825
NM_007294.4(BRCA1):c.5323A>G (p.Met1775Val) rs2051198464
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.4(BRCA1):c.5324_5332+5del
NM_007294.4(BRCA1):c.5332+2T>A rs80358182
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5333-1G>C rs80358126
NM_007294.4(BRCA1):c.5333-2A>T rs397509264
NM_007294.4(BRCA1):c.5333-6T>G rs397509266
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg) rs80357474
NM_007294.4(BRCA1):c.5352dup (p.Gln1785fs) rs80357744
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys) rs397509271
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.4(BRCA1):c.5366C>T (p.Ala1789Val) rs2051085308
NM_007294.4(BRCA1):c.536_547+166delinsT rs2054281859
NM_007294.4(BRCA1):c.536_547+209delinsTCACCTTGAAGAATCTTACTTTAAAAAGGGAGCAAAAGAGGCCAGGCATGGT
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5402_5406+14del rs2051069083
NM_007294.4(BRCA1):c.5406+1_5406+3del rs397509277
NM_007294.4(BRCA1):c.5406+4A>G rs397509279
NM_007294.4(BRCA1):c.5406+5G>A rs80358073
NM_007294.4(BRCA1):c.5406del (p.Gly1803fs)
NM_007294.4(BRCA1):c.5407-10G>A rs273901767
NM_007294.4(BRCA1):c.5407-1G>C rs80358029
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala) rs80357149
NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe) rs28897698
NM_007294.4(BRCA1):c.5426T>A (p.Val1809Asp) rs80357216
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg) rs80357040
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5467+1_5467+16del rs2152760370
NM_007294.4(BRCA1):c.5467G>C (p.Ala1823Pro) rs80357212
NM_007294.4(BRCA1):c.5468-2A>G rs398122699
NM_007294.4(BRCA1):c.5468-2A>T rs398122699
NM_007294.4(BRCA1):c.547+1G>T rs80358030
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5503dup (p.Arg1835fs) rs397509291
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
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.5522G>A (p.Ser1841Asn) rs80357368
NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr) rs80357368
NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.4(BRCA1):c.5528C>A (p.Ala1843Glu) rs730881447
NM_007294.4(BRCA1):c.5545G>T (p.Glu1849Ter) rs2050864747
NM_007294.4(BRCA1):c.5558A>C (p.Tyr1853Ser) rs80357258
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro) rs80356996
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs) rs886039675
NM_007294.4(BRCA1):c.56A>C (p.Gln19Pro) rs2055725680
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.671-1G>C rs80358020
NM_007294.4(BRCA1):c.671-1G>T rs80358020
NM_007294.4(BRCA1):c.671-2A>C rs80358108
NM_007294.4(BRCA1):c.671-2A>G rs80358108
NM_007294.4(BRCA1):c.74C>T (p.Pro25Leu) rs876660096
NM_007294.4(BRCA1):c.779A>G (p.Lys260Arg) rs2054049431
NM_007294.4(BRCA1):c.80+1G>A rs80358010
NM_007294.4(BRCA1):c.80+5G>T rs80358045
NM_007294.4(BRCA1):c.80G>A (p.Cys27Tyr) rs1064793052
NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe) rs1064793052
NM_007294.4(BRCA1):c.81-2A>C rs397509326
NM_007294.4(BRCA1):c.81-2A>G rs397509326
NM_007294.4(BRCA1):c.81-6T>A rs80358179
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro) rs80357266

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