ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
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.135-1G>A rs80358158
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.25del (p.Glu9fs) rs2154578048
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
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.4484+5G>T rs886040910
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
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.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.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5075-2del rs886040913
NM_007294.4(BRCA1):c.5116G>C (p.Gly1706Arg) rs886040864
NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe) rs1567769244
NM_007294.4(BRCA1):c.5152+2T>C rs886040914
NM_007294.4(BRCA1):c.5152+5G>A rs80358165
NM_007294.4(BRCA1):c.5152+6T>C rs80358074
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile) rs80356957
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly) rs45553935
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5277+1del rs273901754
NM_007294.4(BRCA1):c.5278-2A>T rs397509253
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
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.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.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.4(BRCA1):c.536_547+166delinsT rs2054281859
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.5407-10G>A rs273901767
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.5467+1_5467+16del rs2152760370
NM_007294.4(BRCA1):c.547+1G>T rs80358030
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
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.671-2A>C rs80358108
NM_007294.4(BRCA1):c.80+1G>A rs80358010
NM_007294.4(BRCA1):c.80+5G>T rs80358045
NM_007294.4(BRCA1):c.81-2A>C rs397509326

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.