ClinVar Miner

List of variants in gene BRCA1 reported by GeneKor MSA

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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.213-161A>G rs799912 0.49747
NM_007294.4(BRCA1):c.4485-137T>A rs2236762 0.45393
NM_007294.4(BRCA1):c.4485-63C>G rs273900734 0.30900
NM_007294.4(BRCA1):c.-19-115T>C rs3765640 0.30895
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.*1287C>T rs12516 0.30331
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.*421G>T rs8176318 0.28553
NM_007294.4(BRCA1):c.442-34C>T rs799923 0.15730
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.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.302-70G>A rs147809611 0.00004
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met) rs80357169 0.00002
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met) rs786202386 0.00001
NM_007294.4(BRCA1):c.2765C>G (p.Thr922Arg) rs80357460 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.3(BRCA1):c.(441+1_442-1)_(547+1_548-1)del
NM_007294.3(BRCA1):c.(5074+1-5075-1)_(5193+1_5194-1)del
NM_007294.3(BRCA1):c.(5467+1_5468-1)_(*1_?)del
NM_007294.3(BRCA1):c.(80+1_81-1)_(134+1_135-1)del
NM_007294.3(BRCA1):c.(?_-1)_(80+1_81-1)del
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter) rs80356935
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs) rs876659327
NM_007294.4(BRCA1):c.1142_1143del (p.Lys381fs) rs879255313
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer) rs879255320
NM_007294.4(BRCA1):c.1292_1295del (p.Leu431fs) rs1555591984
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.135-2A>G rs80358065
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter) rs80356893
NM_007294.4(BRCA1):c.1622_1626del (p.Gln541fs) rs879255314
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter) rs730881473
NM_007294.4(BRCA1):c.1789G>T (p.Glu597Ter) rs55650082
NM_007294.4(BRCA1):c.1853G>A (p.Arg618Lys) rs876659527
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.195del (p.Asn66fs) rs80357869
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.212+1G>T rs80358042
NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter) rs80356875
NM_007294.4(BRCA1):c.2196del (p.Glu733fs) rs397508948
NM_007294.4(BRCA1):c.2241dup (p.Lys748fs) rs80357650
NM_007294.4(BRCA1):c.224_227del (p.Glu75fs) rs80357697
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.2504dup (p.His835fs) rs1555589513
NM_007294.4(BRCA1):c.2511del (p.Asn838fs) rs1555589501
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter) rs886038001
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.274G>C (p.Ala92Pro) rs863224755
NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter) rs80357377
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter) rs878853292
NM_007294.4(BRCA1):c.2934del (p.Arg979fs) rs80357741
NM_007294.4(BRCA1):c.2983A>T (p.Lys995Ter) rs879255315
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer) rs80357617
NM_007294.4(BRCA1):c.3083G>T (p.Arg1028Leu) rs80357459
NM_007294.4(BRCA1):c.3091A>G (p.Ile1031Val) rs786203979
NM_007294.4(BRCA1):c.3132del (p.Asn1045fs) rs879255316
NM_007294.4(BRCA1):c.3157dup (p.Glu1053fs) rs397509042
NM_007294.4(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.4(BRCA1):c.397del (p.Arg133fs) rs886037973
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs) rs80357861
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter) rs80357305
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4358-3A>G rs1567779966
NM_007294.4(BRCA1):c.4358C>T (p.Ala1453Val) rs1171055085
NM_007294.4(BRCA1):c.4372_4373del (p.Gln1458fs) rs879255317
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) rs273900730
NM_007294.4(BRCA1):c.441+18CTT[6] rs147856441
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4484+1del rs397509181
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.4(BRCA1):c.4485-1G>T rs80358189
NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter) rs80356953
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4526A>G (p.Tyr1509Cys) rs1555582023
NM_007294.4(BRCA1):c.4698_4704dup (p.Ser1569fs) rs879255318
NM_007294.4(BRCA1):c.4774A>C (p.Asn1592His) rs1567775261
NM_007294.4(BRCA1):c.4818del (p.Val1607fs) rs1555580883
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4945del (p.Arg1649fs) rs80357655
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+4A>T rs80358087
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.4(BRCA1):c.5057A>C (p.His1686Pro) rs730882166
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5194-10_5236dup rs1555576921
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5260G>T (p.Glu1754Ter) rs80357432
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5318C>T (p.Thr1773Ile) rs80357428
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.548-58del rs8176144
NM_007294.4(BRCA1):c.5492del (p.Pro1831fs) rs80357582
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.65T>A (p.Leu22Ter) rs80357438
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.679G>T (p.Glu227Ter) rs879255319
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.737del (p.Asp245_Leu246insTer) rs397509312
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.849dup (p.Gln284fs) rs1555592986
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter) rs80357292

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