ClinVar Miner

List of variants in gene BRCA1 reported as likely benign by Department of Pathology and Laboratory Medicine, Sinai Health System

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Gene type:
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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_007294.4(BRCA1):c.5277+48_5277+59dup rs572766355 0.00187
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299 0.00107
NM_007294.4(BRCA1):c.134+111C>T rs8176100 0.00102
NM_007294.4(BRCA1):c.5277+78G>A rs80358107 0.00099
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00058
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00054
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00024
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833 0.00022
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920 0.00021
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00017
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847 0.00013
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr) rs70953661 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.4644G>A (p.Thr1548=) rs28897692 0.00008
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682 0.00006
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln) rs80357337 0.00006
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_007294.4(BRCA1):c.2634A>G (p.Ala878=) rs730881451 0.00005
NM_007294.4(BRCA1):c.301+55G>A rs868735744 0.00005
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=) rs587780863 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_007294.4(BRCA1):c.670+16G>A rs199916228 0.00005
NM_007294.4(BRCA1):c.2979A>G (p.Lys993=) rs772854836 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_007294.4(BRCA1):c.4675+53C>A rs869312522 0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00004
NM_007294.4(BRCA1):c.570C>T (p.Thr190=) rs201536070 0.00004
NM_007294.4(BRCA1):c.81-11del rs273902788 0.00004
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273 0.00003
NM_007294.4(BRCA1):c.2862A>G (p.Leu954=) rs559190752 0.00003
NM_007294.4(BRCA1):c.3063T>C (p.Ser1021=) rs1364539273 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.5153-31A>G rs370536578 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 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.3130A>G (p.Ile1044Val) rs80357271 0.00002
NM_007294.4(BRCA1):c.4097-11T>C rs80358072 0.00002
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=) rs41293453 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.522A>G (p.Gln174=) rs765432756 0.00002
NM_007294.4(BRCA1):c.5274A>G (p.Arg1758=) rs758739620 0.00002
NM_007294.4(BRCA1):c.5407-73A>C rs1267083930 0.00002
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711 0.00001
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964 0.00001
NM_007294.4(BRCA1):c.2207A>C (p.Glu736Ala) rs397507196 0.00001
NM_007294.4(BRCA1):c.2295G>A (p.Glu765=) rs201875054 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.301+12A>C rs863224757 0.00001
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr) rs55848034 0.00001
NM_007294.4(BRCA1):c.4314C>G (p.Ala1438=) rs80356856 0.00001
NM_007294.4(BRCA1):c.4848T>C (p.Ala1616=) rs1480250917 0.00001
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048 0.00001
NM_007294.4(BRCA1):c.5100A>G (p.Thr1700=) rs45519437 0.00001
NM_007294.4(BRCA1):c.5153-13A>G rs45471406 0.00001
NM_007294.4(BRCA1):c.5278-96del rs55875201 0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041 0.00001
NM_007294.4(BRCA1):c.5407-21C>G rs273901768 0.00001
NM_007294.4(BRCA1):c.825C>T (p.Gly275=) rs397509328 0.00001
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu) rs80357253
NM_007294.4(BRCA1):c.1431A>G (p.Val477=) rs2154446463
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.4(BRCA1):c.1775G>A (p.Ser592Asn) rs786203044
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.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.4(BRCA1):c.2433C>T (p.Pro811=) rs1555589666
NM_007294.4(BRCA1):c.2649A>C (p.Ala883=) rs2154366693
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.4(BRCA1):c.3179A>C (p.Glu1060Ala) rs80357184
NM_007294.4(BRCA1):c.4185+14G>C rs762153716
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.4(BRCA1):c.4533C>T (p.His1511=) rs1567778195
NM_007294.4(BRCA1):c.4773C>T (p.Gly1591=) rs2153860804
NM_007294.4(BRCA1):c.477T>C (p.Leu159=) rs779704727
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) rs1799966
NM_007294.4(BRCA1):c.5103G>A (p.Leu1701=) rs1060504591
NM_007294.4(BRCA1):c.5152+85del rs8176259
NM_007294.4(BRCA1):c.5194-4T>C rs1057524456
NM_007294.4(BRCA1):c.5251C>A (p.Arg1751=) rs80357123
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.537C>A (p.Tyr179Ter) rs2154528076
NM_007294.4(BRCA1):c.5406+46T>C rs779935143
NM_007294.4(BRCA1):c.547+14_547+15del rs1555594761
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.594-16dup rs1555593635
NM_007294.4(BRCA1):c.671-12del rs273902781
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.4(BRCA1):c.888A>G (p.Arg296=) rs1555592914

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