ClinVar Miner

List of variants in gene BRCA1 reported as likely benign for Breast and/or ovarian cancer

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299 0.00107
NM_007294.4(BRCA1):c.4840C>T (p.Pro1614Ser) rs70953660 0.00065
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00024
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00017
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly) rs80357501 0.00005
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met) rs80357374 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_007294.4(BRCA1):c.4676-8C>G rs80358021 0.00004
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=) rs28897697 0.00004
NM_007294.4(BRCA1):c.570C>T (p.Thr190=) rs201536070 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_007294.4(BRCA1):c.5333-8C>T rs80358084 0.00003
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys) rs80356994 0.00002
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly) rs28897684 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00002
NM_007294.4(BRCA1):c.5274A>G (p.Arg1758=) rs758739620 0.00002
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=) rs754152768 0.00002
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.463C>G (p.Gln155Glu) rs80357180 0.00001
NM_007294.4(BRCA1):c.4710C>T (p.Leu1570=) rs786201839 0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00001
NM_007294.4(BRCA1):c.5152+10A>G rs80358114 0.00001
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=) rs730881456 0.00001
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys) rs80356942 0.00001
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.1125A>G (p.Leu375=) rs1060504578
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.1863T>C (p.His621=) rs786201460
NM_007294.4(BRCA1):c.212+17T>C rs369461674
NM_007294.4(BRCA1):c.231G>A (p.Thr77=) rs80356847
NM_007294.4(BRCA1):c.2523G>A (p.Arg841=) rs773013395
NM_007294.4(BRCA1):c.3093T>A (p.Ile1031=) rs786204265
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.4(BRCA1):c.3153T>C (p.Thr1051=) rs1057521053
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.4(BRCA1):c.426C>T (p.Pro142=) rs542687218
NM_007294.4(BRCA1):c.441+18CTT[8] rs147856441
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.4(BRCA1):c.5075-4G>A rs397509220
NM_007294.4(BRCA1):c.5075-9A>G rs80358059
NM_007294.4(BRCA1):c.5157G>A (p.Val1719=) rs28897697
NM_007294.4(BRCA1):c.5332+7G>A rs773655919
NM_007294.4(BRCA1):c.81-14C>T rs80358006

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