ClinVar Miner

List of variants studied for breast-ovarian cancer, familial, susceptibility to, 1 by Department of Medical and Surgical Sciences, University of Bologna

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770 0.00006
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00004
NM_007294.4(BRCA1):c.1881C>G (p.Val627=) rs80356838 0.00003
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr) rs80357182 0.00003
NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys) rs80357202 0.00002
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln) rs80356915 0.00001
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030 0.00001
NM_007294.4(BRCA1):c.1934C>A (p.Ser645Tyr) rs80357129 0.00001
NM_007294.4(BRCA1):c.20G>A (p.Arg7His) rs144792613 0.00001
NM_007294.4(BRCA1):c.2281G>C (p.Glu761Gln) rs397507198 0.00001
NM_007294.4(BRCA1):c.301+6T>C rs753859240 0.00001
NM_007294.4(BRCA1):c.3220A>G (p.Arg1074Gly) rs80357263 0.00001
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4730C>A (p.Ser1577Tyr) rs273901741 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.535T>C (p.Tyr179His) rs587781761 0.00001
NM_007294.4(BRCA1):c.1027_1028delinsTG (p.Asn343Cys)
NM_007294.4(BRCA1):c.1374C>G (p.Asp458Glu)
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.4(BRCA1):c.1461T>C (p.Val487=)
NM_007294.4(BRCA1):c.1562C>T (p.Ala521Val)
NM_007294.4(BRCA1):c.1717T>A (p.Ser573Thr) rs876660448
NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys) rs80357005
NM_007294.4(BRCA1):c.1966A>G (p.Asn656Asp) rs786203455
NM_007294.4(BRCA1):c.2119_2120delinsTT (p.Gly707Phe)
NM_007294.4(BRCA1):c.2237A>T (p.Asp746Val)
NM_007294.4(BRCA1):c.2589T>G (p.Val863=)
NM_007294.4(BRCA1):c.2941C>G (p.Pro981Ala)
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del) rs80358337
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro) rs80357101
NM_007294.4(BRCA1):c.3613G>A (p.Gly1205Arg) rs80357294
NM_007294.4(BRCA1):c.3783A>T (p.Leu1261Phe) rs80356831
NM_007294.4(BRCA1):c.3878C>T (p.Ala1293Val) rs80357213
NM_007294.4(BRCA1):c.4013A>G (p.Lys1338Arg) rs1555586661
NM_007294.4(BRCA1):c.4223A>G (p.Gln1408Arg) rs1555584227
NM_007294.4(BRCA1):c.441+5A>G
NM_007294.4(BRCA1):c.457A>G (p.Ser153Gly) rs28897674
NM_007294.4(BRCA1):c.4777A>T (p.Ile1593Leu) rs397509197
NM_007294.4(BRCA1):c.4895T>G (p.Val1632Gly) rs1397965282
NM_007294.4(BRCA1):c.4987-31C>G
NM_007294.4(BRCA1):c.4987-40G>C rs80358056
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5153-26A>G rs80358109
NM_007294.4(BRCA1):c.5288G>T (p.Gly1763Val) rs80357007
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.556T>G (p.Ser186Ala) rs397509298
NM_007294.4(BRCA1):c.569C>T (p.Thr190Ile)
NM_007294.4(BRCA1):c.652T>G (p.Leu218Val) rs765950064
NM_007294.4(BRCA1):c.671-23T>C
NM_007294.4(BRCA1):c.767G>A (p.Arg256Lys) rs11658785
NM_007294.4(BRCA1):c.889A>C (p.Met297Leu) rs80357196
NM_007294.4(BRCA1):c.901A>C (p.Lys301Gln) rs756859863

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