ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
Download table as spreadsheet
HGVS dbSNP
NM_007294.3(BRCA1):c.*1271T>C rs1555574034
NM_007294.3(BRCA1):c.110C>G (p.Thr37Arg) rs80356880
NM_007294.3(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.3(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.3(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.3(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.3(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.3(BRCA1):c.134+2T>C rs80358131
NM_007294.3(BRCA1):c.135-1G>A rs80358158
NM_007294.3(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.3(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.3(BRCA1):c.212G>T (p.Arg71Met) rs80356913
NM_007294.3(BRCA1):c.301+1G>A rs587782173
NM_007294.3(BRCA1):c.301+1G>C rs587782173
NM_007294.3(BRCA1):c.301+1G>T rs587782173
NM_007294.3(BRCA1):c.302-1G>T rs80358116
NM_007294.3(BRCA1):c.302-2A>G rs80358011
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4185+2_4185+22delinsA rs273900724
NM_007294.3(BRCA1):c.4185G>C (p.Gln1395His) rs80356857
NM_007294.3(BRCA1):c.4357+1G>C rs80358027
NM_007294.3(BRCA1):c.4357+2T>G rs80358152
NM_007294.3(BRCA1):c.441+1G>A rs397509172
NM_007294.3(BRCA1):c.441+2T>A rs397509173
NM_007294.3(BRCA1):c.441+2T>C rs397509173
NM_007294.3(BRCA1):c.441G>C (p.Leu147Phe) rs748876625
NM_007294.3(BRCA1):c.4485-1G>A rs80358189
NM_007294.3(BRCA1):c.4485-2A>G rs80358054
NM_007294.3(BRCA1):c.4675+3A>T rs80358082
NM_007294.3(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.3(BRCA1):c.4676-1G>A rs80358008
NM_007294.3(BRCA1):c.4676-1G>C rs80358008
NM_007294.3(BRCA1):c.4676-2A>G rs80358096
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.3(BRCA1):c.4986+3G>C rs80358023
NM_007294.3(BRCA1):c.4986+4A>T rs80358087
NM_007294.3(BRCA1):c.4986+6T>G rs80358086
NM_007294.3(BRCA1):c.4987-1G>C rs730881495
NM_007294.3(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.3(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.3(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.3(BRCA1):c.5074+2T>C rs80358089
NM_007294.3(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_007294.3(BRCA1):c.5075-2del rs886040913
NM_007294.3(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.3(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.3(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.3(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.3(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.3(BRCA1):c.5152+2T>C rs886040914
NM_007294.3(BRCA1):c.5153-16_5156delinsAATA rs587781526
NM_007294.3(BRCA1):c.5153-2A>G rs786202545
NM_007294.3(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.3(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5194-2A>C rs80358069
NM_007294.3(BRCA1):c.5194-2A>G rs80358069
NM_007294.3(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.3(BRCA1):c.5252G>C (p.Arg1751Pro) rs80357442
NM_007294.3(BRCA1):c.5254G>C (p.Ala1752Pro) rs80357074
NM_007294.3(BRCA1):c.5277G>T (p.Lys1759Asn) rs80356854
NM_007294.3(BRCA1):c.5278-2A>T rs397509253
NM_007294.3(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.3(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.3(BRCA1):c.5332+1G>T rs80358041
NM_007294.3(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.3(BRCA1):c.5333-2A>T rs397509264
NM_007294.3(BRCA1):c.5362G>T (p.Gly1788Cys) rs397509271
NM_007294.3(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.3(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.3(BRCA1):c.5406+5G>C rs80358073
NM_007294.3(BRCA1):c.5406+5G>T rs80358073
NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.3(BRCA1):c.5467+2T>C rs80358009
NM_007294.3(BRCA1):c.547+1G>A rs80358030
NM_007294.3(BRCA1):c.547+1G>T rs80358030
NM_007294.3(BRCA1):c.547+2T>A rs80358047
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.3(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.3(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.3(BRCA1):c.671-1G>T rs80358020
NM_007294.3(BRCA1):c.671-2A>C rs80358108
NM_007294.3(BRCA1):c.80+1G>C rs80358010
NM_007294.3(BRCA1):c.80+5G>A rs80358045
NM_007294.3(BRCA1):c.80+5G>T rs80358045
NM_007294.3(BRCA1):c.81-1G>A rs80358018
NM_007294.3(BRCA1):c.81-2A>G rs397509326
NM_007294.3(BRCA1):c.81-5_81-1delinsACCTTGA rs1555599292
NM_007297.4(BRCA1):c.71+1del rs786203526
NM_007299.4(BRCA1):c.*92dup rs397507254
NM_007299.4(BRCA1):c.1895T>C (p.Val632Ala) rs45553935

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.