ClinVar Miner

List of variants in gene BRCA1 reported as benign for Familial cancer of breast

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
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.114G>A (p.Lys38=) rs1800062 0.00233
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
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.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299 0.00107
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_007294.4(BRCA1):c.807G>A (p.Leu269=) rs149867679 0.00022
NM_007294.4(BRCA1):c.828A>G (p.Thr276=) rs186274774 0.00019
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847 0.00013
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu) rs80357183 0.00001
NM_007294.3:c.134+19insT
NM_007294.3:c.441+6insA
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del) rs587781614
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2998G>A (p.Glu1000Lys) rs80357124
NM_007294.4(BRCA1):c.441+17del rs730881449
NM_007294.4(BRCA1):c.441+18CTT[6] rs147856441
NM_007294.4(BRCA1):c.4450T>A (p.Ser1484Thr) rs80357404
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.804C>G (p.Asn268Lys) rs771076131
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu) rs80357244

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