ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Total variants: 49
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HGVS dbSNP
NM_007294.3(BRCA1):c.1091_1092del (p.Pro364fs) rs1555592526
NM_007294.3(BRCA1):c.1292del (p.Leu431fs) rs80357528
NM_007294.3(BRCA1):c.134+1G>C rs80358043
NM_007294.3(BRCA1):c.139T>G (p.Cys47Gly) rs80357370
NM_007294.3(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.3(BRCA1):c.1825_1829del (p.Asn609fs) rs1555591170
NM_007294.3(BRCA1):c.1969C>T (p.Gln657Ter) rs397508926
NM_007294.3(BRCA1):c.2295del (p.Ser766fs) rs1567796243
NM_007294.3(BRCA1):c.2346dup (p.Ile783fs) rs886040027
NM_007294.3(BRCA1):c.2429dup (p.Asn810fs) rs397508967
NM_007294.3(BRCA1):c.2620_2621del (p.Asn874fs) rs587781423
NM_007294.3(BRCA1):c.2693_2694dup (p.Val899fs) rs80357549
NM_007294.3(BRCA1):c.2728del (p.Gln910fs) rs397509005
NM_007294.3(BRCA1):c.2861dup (p.Ser955fs) rs886040079
NM_007294.3(BRCA1):c.2959A>T (p.Lys987Ter) rs878854941
NM_007294.3(BRCA1):c.3289dup (p.Ser1097fs) rs80357686
NM_007294.3(BRCA1):c.3475dup (p.Ile1159fs) rs1555587638
NM_007294.3(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer) rs797044631
NM_007294.3(BRCA1):c.379del (p.Ser127fs) rs1555596373
NM_007294.3(BRCA1):c.3964A>T (p.Lys1322Ter) rs80357343
NM_007294.3(BRCA1):c.4211del (p.Leu1404fs) rs1555584251
NM_007294.3(BRCA1):c.4386dup (p.Tyr1463fs) rs786204267
NM_007294.3(BRCA1):c.4396dup (p.Ser1466fs) rs397509170
NM_007294.3(BRCA1):c.442C>T (p.Gln148Ter) rs876659614
NM_007294.3(BRCA1):c.4534del (p.Ser1512fs) rs1567778176
NM_007294.3(BRCA1):c.4623_4632del (p.Glu1541fs) rs1567777811
NM_007294.3(BRCA1):c.4834_4835del (p.Gln1612fs) rs1555580840
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4986+5G>A rs397509211
NM_007294.3(BRCA1):c.4997dup (p.Tyr1666Ter) rs876658947
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.3(BRCA1):c.5277+1delG rs273901754
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.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.3(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.3(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.3(BRCA1):c.5569del (p.Gln1857fs) rs886039675
NM_007294.3(BRCA1):c.614T>G (p.Leu205Ter) rs1555593598
NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.3(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.3(BRCA1):c.933del (p.Gly312fs) rs1135401839
NM_007294.3(BRCA1):c.942_956delinsCTTACTTC (p.Arg315fs) rs1555592766

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