ClinVar Miner

List of variants in gene BRCA1 reported as likely benign by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe) rs369588942 0.00020
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_007294.4(BRCA1):c.828A>G (p.Thr276=) rs186274774 0.00019
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu) rs80357024 0.00012
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr) rs70953661 0.00011
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly) rs772684048 0.00008
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met) rs80357001 0.00007
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770 0.00006
NM_007294.4(BRCA1):c.135-3T>C rs759417413 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461 0.00005
NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile) rs80357364 0.00005
NM_007294.4(BRCA1):c.2883C>T (p.Asn961=) rs201190540 0.00005
NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly) rs80357501 0.00005
NM_007294.4(BRCA1):c.1242C>T (p.Asp414=) rs372400428 0.00004
NM_007294.4(BRCA1):c.1419C>T (p.Asn473=) rs777228325 0.00004
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met) rs80357374 0.00004
NM_007294.4(BRCA1):c.2496A>T (p.Pro832=) rs767666029 0.00004
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874 0.00004
NM_007294.4(BRCA1):c.2735A>G (p.Lys912Arg) rs397507204 0.00004
NM_007294.4(BRCA1):c.288C>T (p.Asp96=) rs146085503 0.00004
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp) rs80356899 0.00004
NM_007294.4(BRCA1):c.366T>G (p.Val122=) rs190900046 0.00004
NM_007294.4(BRCA1):c.36A>G (p.Gln12=) rs763230080 0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013 0.00004
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His) rs80357022 0.00004
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00004
NM_007294.4(BRCA1):c.4676-8C>G rs80358021 0.00004
NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala) rs145466894 0.00004
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=) rs28897697 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.2862A>G (p.Leu954=) rs559190752 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.4251G>A (p.Val1417=) rs777057839 0.00003
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg) rs80357079 0.00003
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg) rs28897674 0.00003
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171 0.00003
NM_007294.4(BRCA1):c.5333-8C>T rs80358084 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_007294.4(BRCA1):c.1563A>G (p.Ala521=) rs754970915 0.00002
NM_007294.4(BRCA1):c.1731A>G (p.Glu577=) rs28897678 0.00002
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys) rs80356994 0.00002
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895 0.00002
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly) rs28897684 0.00002
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) rs786201784 0.00002
NM_007294.4(BRCA1):c.369T>A (p.Ser123=) rs774583925 0.00002
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=) rs41293453 0.00002
NM_007294.4(BRCA1):c.4676-7C>T rs80358005 0.00002
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His) rs80357341 0.00002
NM_007294.4(BRCA1):c.4798T>C (p.Leu1600=) rs775837744 0.00002
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met) rs80357169 0.00002
NM_007294.4(BRCA1):c.5153-6C>A rs80358129 0.00002
NM_007294.4(BRCA1):c.522A>G (p.Gln174=) rs765432756 0.00002
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=) rs754152768 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_007294.4(BRCA1):c.1026G>A (p.Leu342=) rs1171571879 0.00001
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711 0.00001
NM_007294.4(BRCA1):c.1113T>C (p.Pro371=) rs876658619 0.00001
NM_007294.4(BRCA1):c.1149T>C (p.Asn383=) rs979531844 0.00001
NM_007294.4(BRCA1):c.1215A>G (p.Ser405=) rs786201517 0.00001
NM_007294.4(BRCA1):c.1257A>G (p.Val419=) rs751690840 0.00001
NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr) rs80357488 0.00001
NM_007294.4(BRCA1):c.1275T>A (p.Ser425=) rs786201160 0.00001
NM_007294.4(BRCA1):c.1294C>T (p.Leu432=) rs864622454 0.00001
NM_007294.4(BRCA1):c.1308T>C (p.Pro436=) rs770279083 0.00001
NM_007294.4(BRCA1):c.133A>C (p.Lys45Gln) rs769650474 0.00001
NM_007294.4(BRCA1):c.1374C>T (p.Asp458=) rs879253999 0.00001
NM_007294.4(BRCA1):c.1386G>A (p.Gly462=) rs876659749 0.00001
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030 0.00001
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=) rs786201323 0.00001
NM_007294.4(BRCA1):c.1704T>G (p.Pro568=) rs587780795 0.00001
NM_007294.4(BRCA1):c.1788C>T (p.Leu596=) rs779253414 0.00001
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=) rs756211343 0.00001
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=) rs1800064 0.00001
NM_007294.4(BRCA1):c.1873C>T (p.Leu625=) rs769044421 0.00001
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His) rs80357344 0.00001
NM_007294.4(BRCA1):c.1950A>T (p.Ile650=) rs1060504579 0.00001
NM_007294.4(BRCA1):c.20G>A (p.Arg7His) rs144792613 0.00001
NM_007294.4(BRCA1):c.2207A>C (p.Glu736Ala) rs397507196 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=) rs587782608 0.00001
NM_007294.4(BRCA1):c.2757T>C (p.Pro919=) rs755516286 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_007294.4(BRCA1):c.2820T>C (p.Asp940=) rs1414992991 0.00001
NM_007294.4(BRCA1):c.2860C>T (p.Leu954=) rs730881452 0.00001
NM_007294.4(BRCA1):c.301+10G>A rs80358001 0.00001
NM_007294.4(BRCA1):c.3054C>T (p.Asn1018=) rs1429701835 0.00001
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val) rs80357311 0.00001
NM_007294.4(BRCA1):c.3060A>G (p.Pro1020=) rs781435355 0.00001
NM_007294.4(BRCA1):c.3171T>C (p.Ser1057=) rs746394738 0.00001
NM_007294.4(BRCA1):c.378A>G (p.Gln126=) rs786201256 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=) rs786201224 0.00001
NM_007294.4(BRCA1):c.420T>C (p.Ser140=) rs730881448 0.00001
NM_007294.4(BRCA1):c.4332T>C (p.Asn1444=) rs752824502 0.00001
NM_007294.4(BRCA1):c.4380T>C (p.Ser1460=) rs786203100 0.00001
NM_007294.4(BRCA1):c.4419T>A (p.Ser1473=) rs730881455 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.4635C>T (p.His1545=) rs373686790 0.00001
NM_007294.4(BRCA1):c.4675+7T>C rs273900739 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.4991T>C (p.Leu1664Pro) rs80357314 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_007294.4(BRCA1):c.5075-9A>T rs80358059 0.00001
NM_007294.4(BRCA1):c.5100A>G (p.Thr1700=) rs45519437 0.00001
NM_007294.4(BRCA1):c.5332+7G>T rs773655919 0.00001
NM_007294.4(BRCA1):c.5332+8C>T rs772616764 0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041 0.00001
NM_007294.4(BRCA1):c.5415C>T (p.His1805=) rs1060504559 0.00001
NM_007294.4(BRCA1):c.5416C>G (p.Pro1806Ala) rs80357241 0.00001
NM_007294.4(BRCA1):c.5439T>C (p.Asp1813=) rs760396669 0.00001
NM_007294.4(BRCA1):c.543A>G (p.Glu181=) rs397507250 0.00001
NM_007294.4(BRCA1):c.547+8T>G rs762224894 0.00001
NM_007294.4(BRCA1):c.5514G>T (p.Val1838=) rs786201248 0.00001
NM_007294.4(BRCA1):c.5550G>C (p.Leu1850=) rs786201502 0.00001
NM_007294.4(BRCA1):c.564A>G (p.Glu188=) rs768065826 0.00001
NM_007294.4(BRCA1):c.593+8A>G rs863224421 0.00001
NM_007294.4(BRCA1):c.61A>G (p.Ile21Val) rs80357406 0.00001
NM_007294.4(BRCA1):c.699A>G (p.Val233=) rs786202162 0.00001
NM_007294.4(BRCA1):c.825C>T (p.Gly275=) rs397509328 0.00001
NM_007294.4(BRCA1):c.837T>C (p.His279=) rs775477245 0.00001
NM_007294.4(BRCA1):c.1071A>G (p.Lys357=) rs786202159
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.1173A>G (p.Glu391=) rs1131692097
NM_007294.4(BRCA1):c.1257A>T (p.Val419=) rs751690840
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.4(BRCA1):c.1722C>T (p.Leu574=) rs530914551
NM_007294.4(BRCA1):c.1749A>G (p.Lys583=) rs876659580
NM_007294.4(BRCA1):c.1842G>A (p.Lys614=) rs760109939
NM_007294.4(BRCA1):c.2001A>G (p.Gln667=) rs878854937
NM_007294.4(BRCA1):c.2022T>G (p.Pro674=) rs771519405
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.4(BRCA1):c.2130T>G (p.Thr710=) rs273898678
NM_007294.4(BRCA1):c.2139A>C (p.Ser713=) rs1131692089
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2412G>A (p.Gln804=) rs55746541
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly) rs397507201
NM_007294.4(BRCA1):c.2569T>C (p.Leu857=) rs779895958
NM_007294.4(BRCA1):c.258A>G (p.Leu86=) rs777491912
NM_007294.4(BRCA1):c.2610T>C (p.Ala870=) rs2053729923
NM_007294.4(BRCA1):c.2811G>A (p.Lys937=) rs876659271
NM_007294.4(BRCA1):c.3093T>A (p.Ile1031=) rs786204265
NM_007294.4(BRCA1):c.3144T>C (p.Gly1048=) rs80356837
NM_007294.4(BRCA1):c.3153T>C (p.Thr1051=) rs1057521053
NM_007294.4(BRCA1):c.390C>T (p.Tyr130=) rs80356888
NM_007294.4(BRCA1):c.4131C>T (p.Ser1377=) rs80356871
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.42C>T (p.Val14=) rs80356827
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4515T>C (p.Asp1505=) rs1057522167
NM_007294.4(BRCA1):c.4533C>T (p.His1511=) rs1567778195
NM_007294.4(BRCA1):c.4683C>T (p.Thr1561=) rs878853265
NM_007294.4(BRCA1):c.468C>G (p.Leu156=) rs748923729
NM_007294.4(BRCA1):c.4782A>G (p.Pro1594=) rs876659455
NM_007294.4(BRCA1):c.4872G>T (p.Gly1624=) rs11555992
NM_007294.4(BRCA1):c.4971G>A (p.Leu1657=) rs786202058
NM_007294.4(BRCA1):c.5025T>C (p.Thr1675=) rs876658226
NM_007294.4(BRCA1):c.5052T>C (p.Thr1684=) rs760922019
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) rs55770810
NM_007294.4(BRCA1):c.5157G>A (p.Val1719=) rs28897697
NM_007294.4(BRCA1):c.5193+3A>G rs1060502326
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.5310G>C (p.Gly1770=) rs273901761
NM_007294.4(BRCA1):c.5406+9T>C rs80358040
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_007294.4(BRCA1):c.5466T>C (p.His1822=) rs886052975
NM_007294.4(BRCA1):c.548-3del rs398122353
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.593+9_593+12del rs753624573
NM_007294.4(BRCA1):c.594-4A>G rs80358081
NM_007294.4(BRCA1):c.736T>C (p.Leu246=) rs28897675
NM_007294.4(BRCA1):c.81T>C (p.Cys27=) rs587780805
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro) rs80357252

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