ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic by Counsyl

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Gene type:
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Total variants: 53
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HGVS dbSNP
NM_007294.3(BRCA1):c.182_183delGT rs397508912
NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.3(BRCA1):c.2043dup (p.Asn682Ter) rs863224510
NM_007294.3(BRCA1):c.2105T>G (p.Leu702Ter) rs80357298
NM_007294.3(BRCA1):c.2188_2201del (p.Glu730fs) rs273898681
NM_007294.3(BRCA1):c.2351C>A (p.Ser784Ter) rs55914168
NM_007294.3(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.3(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717
NM_007294.3(BRCA1):c.2915del (p.Gly972fs) rs80357573
NM_007294.3(BRCA1):c.2T>C (p.Met1Thr) rs80357111
NM_007294.3(BRCA1):c.3001G>T (p.Glu1001Ter) rs886038007
NM_007294.3(BRCA1):c.3226_3227AG[1] (p.Gly1077fs) rs80357635
NM_007294.3(BRCA1):c.3285del (p.Lys1095fs) rs397509051
NM_007294.3(BRCA1):c.3351dup (p.Gln1118fs) rs80357785
NM_007294.3(BRCA1):c.346del (p.Glu116fs) rs762635795
NM_007294.3(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.3(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.3(BRCA1):c.4146C>A (p.Cys1382Ter) rs1057517574
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.442-1G>T rs1351019392
NM_007294.3(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.3(BRCA1):c.4655_4658del (p.Tyr1552fs) rs80357561
NM_007294.3(BRCA1):c.4810del (p.Gln1604fs) rs1555580900
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4888G>T (p.Glu1630Ter) rs1173155015
NM_007294.3(BRCA1):c.4986+4A>T rs80358087
NM_007294.3(BRCA1):c.4986+6T>C rs80358086
NM_007294.3(BRCA1):c.4986+6T>G rs80358086
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.3(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.3(BRCA1):c.5156del (p.Val1719fs) rs1057517590
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5186del (p.Leu1729fs) rs398122692
NM_007294.3(BRCA1):c.5307T>G (p.Tyr1769Ter) rs397509258
NM_007294.3(BRCA1):c.5333-1G>A rs80358126
NM_007294.3(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.3(BRCA1):c.5440dup (p.Ala1814fs) rs1057517637
NM_007294.3(BRCA1):c.5467+1G>A rs80358145
NM_007294.3(BRCA1):c.547+1G>A rs80358030
NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.3(BRCA1):c.5536C>T (p.Gln1846Ter) rs80356873
NM_007294.3(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.3(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.3(BRCA1):c.869T>A (p.Leu290Ter) rs730881468
NM_007294.3(BRCA1):c.[-1A>G;3G>A]
NM_007298.3(BRCA1):c.787+1843del rs886038002
NM_007298.3(BRCA1):c.787+698del rs1555591703
NM_007298.3(BRCA1):c.788-1361_788-1358del rs1064794177
NM_007300.4(BRCA1):c.5566C>T (p.Arg1856Ter) rs41293465

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