ClinVar Miner

List of variants in gene BRCA1 reported as likely benign by Mendelics

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.*750A>G rs138782023 0.00430
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00058
NM_007294.4(BRCA1):c.301+146A>C rs571713225 0.00039
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_007294.4(BRCA1):c.4186-128A>T rs528390541 0.00032
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.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.5411T>A (p.Val1804Asp) rs80356920 0.00021
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00017
NM_007294.4(BRCA1):c.1905T>C (p.Asn635=) rs369373293 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.441+18C>T rs371973519 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.5152+20T>A rs376836050 0.00009
NM_007294.4(BRCA1):c.4358-48A>G rs200393646 0.00007
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909 0.00004
NM_007294.4(BRCA1):c.81-11del rs273902788 0.00004
NM_007294.4(BRCA1):c.398G>A (p.Arg133His) rs80357357 0.00003
NM_007294.4(BRCA1):c.5333-8C>T rs80358084 0.00003
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) rs786201784 0.00002
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His) rs80357341 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_007294.4(BRCA1):c.5074+23A>G rs778115859 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.301+12A>C rs863224757 0.00001
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049 0.00001
NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=) rs1250691798 0.00001
NM_007294.4(BRCA1):c.4358-2715C>A rs746972533 0.00001
NM_007294.4(BRCA1):c.4485-10A>G rs863224420 0.00001
NM_007294.4(BRCA1):c.5277+98T>C rs1597810191 0.00001
NM_007294.4(BRCA1):c.5332+15G>C rs80358148 0.00001
NM_007294.4(BRCA1):c.*855_*873A[20]GAAAAAAAAAAAAAAAAAAAAAA[1] rs59541324
NM_007294.4(BRCA1):c.*865_*873dup rs59541324
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2859T>C (p.Cys953=) rs1597867228
NM_007294.4(BRCA1):c.4484+32A>G rs1597838919
NM_007294.4(BRCA1):c.4676-44A>C rs989129232
NM_007294.4(BRCA1):c.5064T>C (p.Val1688=) rs1567771967
NM_007294.4(BRCA1):c.5153-31A>T rs370536578
NM_007294.4(BRCA1):c.5333-873T>C rs943672382
NM_007294.4(BRCA1):c.5468-49C>T rs1597797362
NM_007294.4(BRCA1):c.594-16dup rs1555593635
NM_007294.4(BRCA1):c.671-18_671-16del rs398122354
NM_007294.4(BRCA1):c.81-14C>G rs80358006

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