ClinVar Miner

List of variants in gene BRCA1 studied for Breast and/or ovarian cancer

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Total variants: 147
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HGVS dbSNP
NM_007294.3(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.3(BRCA1):c.1065G>A (p.Lys355=) rs41286292
NM_007294.3(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711
NM_007294.3(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.3(BRCA1):c.115_116TG[1] (p.Cys39_Asp40delinsTer) rs80357972
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.1384G>A (p.Gly462Arg) rs80357221
NM_007294.3(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.3(BRCA1):c.1511G>A (p.Arg504His) rs56272539
NM_007294.3(BRCA1):c.1843_1845TCT[1] (p.Ser616del) rs80358329
NM_007294.3(BRCA1):c.1863T>C (p.His621=) rs786201460
NM_007294.3(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.3(BRCA1):c.1953_1956delGAAA (p.Lys653Serfs) rs80357526
NM_007294.3(BRCA1):c.1960_1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.3(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250
NM_007294.3(BRCA1):c.2050C>T (p.Pro684Ser) rs397508934
NM_007294.3(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.3(BRCA1):c.212+1G>A rs80358042
NM_007294.3(BRCA1):c.2125_2126insA (p.Phe709fs) rs80357871
NM_007294.3(BRCA1):c.213-?_301+?del
NM_007294.3(BRCA1):c.2157dup (p.Glu720fs) rs80357715
NM_007294.3(BRCA1):c.2269del (p.Val757fs) rs80357583
NM_007294.3(BRCA1):c.2338C>G (p.Gln780Glu) rs80356945
NM_007294.3(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298
NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.3(BRCA1):c.2392C>G (p.Pro798Ala)
NM_007294.3(BRCA1):c.2397T>A (p.Asn799Lys) rs80357203
NM_007294.3(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.3(BRCA1):c.242A>T (p.Gln81Leu) rs886040862
NM_007294.3(BRCA1):c.2523G>A (p.Arg841=) rs773013395
NM_007294.3(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.3(BRCA1):c.2662C>T (p.His888Tyr) rs80357480
NM_007294.3(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.3(BRCA1):c.269_281del (p.Ile90fs) rs80359879
NM_007294.3(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.3(BRCA1):c.2870A>C (p.Gln957Pro) rs1567793946
NM_007294.3(BRCA1):c.2930C>T (p.Pro977Leu) rs141465583
NM_007294.3(BRCA1):c.302-2delA rs273899695
NM_007294.3(BRCA1):c.302_441dup rs1567810007
NM_007294.3(BRCA1):c.3092T>G (p.Ile1031Ser) rs863224758
NM_007294.3(BRCA1):c.3093T>A (p.Ile1031=) rs786204265
NM_007294.3(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.3(BRCA1):c.3179A>C (p.Glu1060Ala) rs80357184
NM_007294.3(BRCA1):c.3279del (p.Tyr1094fs) rs397509050
NM_007294.3(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.3(BRCA1):c.3437G>C (p.Cys1146Ser) rs80357247
NM_007294.3(BRCA1):c.3515A>G (p.Glu1172Gly) rs80357206
NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308
NM_007294.3(BRCA1):c.3649_3650insA (p.Ser1217fs) rs80357831
NM_007294.3(BRCA1):c.3661G>T (p.Glu1221Ter) rs80357310
NM_007294.3(BRCA1):c.3668_3671dupTTCC (p.Cys1225Serfs) rs80357797
NM_007294.3(BRCA1):c.3690dup (p.Phe1231fs) rs1567790559
NM_007294.3(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688
NM_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.3(BRCA1):c.3764dupA (p.Asn1255Lysfs) rs80357848
NM_007294.3(BRCA1):c.3809G>A (p.Cys1270Tyr) rs1207787135
NM_007294.3(BRCA1):c.381T>G (p.Ser127Arg) rs945168715
NM_007294.3(BRCA1):c.4060_4062AAT[1] (p.Asn1355del) rs80358341
NM_007294.3(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.4117G>T (p.Glu1373Ter) rs80357259
NM_007294.3(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.3(BRCA1):c.4399C>T (p.Gln1467Ter) rs397509171
NM_007294.3(BRCA1):c.442-43_524del rs1555594841
NM_007294.3(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.3(BRCA1):c.4487C>G (p.Ser1496Ter) rs80356953
NM_007294.3(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.3(BRCA1):c.4885dup (p.Glu1629fs) rs886040254
NM_007294.3(BRCA1):c.4903G>A (p.Glu1635Lys) rs200432771
NM_007294.3(BRCA1):c.4955T>A (p.Met1652Lys) rs80356968
NM_007294.3(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.3(BRCA1):c.4986+6T>C rs80358086
NM_007294.3(BRCA1):c.4986+6T>G rs80358086
NM_007294.3(BRCA1):c.4987-4del rs1567772535
NM_007294.3(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.3(BRCA1):c.505C>T (p.Gln169Ter) rs80357133
NM_007294.3(BRCA1):c.5074+6C>G rs80358032
NM_007294.3(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5102_5103del (p.Leu1701fs) rs80357608
NM_007294.3(BRCA1):c.5106del (p.Lys1702fs) rs80357553
NM_007294.3(BRCA1):c.5116G>C (p.Gly1706Arg) rs886040864
NM_007294.3(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696
NM_007294.3(BRCA1):c.514del (p.Gln172fs) rs80357872
NM_007294.3(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.3(BRCA1):c.5236C>T (p.His1746Tyr) rs80357146
NM_007294.3(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5274A>G (p.Arg1758=) rs758739620
NM_007294.3(BRCA1):c.5319dup (p.Asn1774fs) rs80357823
NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233
NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962
NM_007294.3(BRCA1):c.547+14delG rs273902771
NM_007294.3(BRCA1):c.548-9delA rs273902774
NM_007294.3(BRCA1):c.5506G>A (p.Glu1836Lys) rs80356942
NM_007294.3(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.3(BRCA1):c.594-2A>C rs80358033
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007294.3(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.3(BRCA1):c.74C>T (p.Pro25Leu) rs876660096
NM_007294.3(BRCA1):c.754C>T (p.Arg252Cys) rs273902786
NM_007294.3(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.3(BRCA1):c.81-6T>C rs80358179
NM_007294.3(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.3(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.3(BRCA1):c.895_896del (p.Val299fs) rs80357670
NM_007294.3(BRCA1):c.946A>G (p.Ser316Gly) rs55874646
NM_007294.3(BRCA1):c.954T>A (p.His318Gln) rs1135401826
NM_007294.3(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
NM_007294.3(BRCA1):c.963G>A (p.Trp321Ter) rs886040335
NM_007294.3(BRCA1):c.97G>C (p.Glu33Gln) rs80357066
NM_007294.3(BRCA1):c.994C>T (p.Arg332Trp) rs80357176
NM_007297.4(BRCA1):c.-8+8224C>T rs80358006
NM_007298.3(BRCA1):c.787+1524_787+1530del rs1060502354
NM_007299.4(BRCA1):c.1018C>T (p.Arg340Ter) rs41293455
NM_007299.4(BRCA1):c.1324G>A (p.Asp442Asn) rs28897691
NM_007299.4(BRCA1):c.1965+1G>A rs80358150
NM_007299.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007299.4(BRCA1):c.212+3A>G rs80358083
NM_007299.4(BRCA1):c.213-11T>G rs80358061
NM_007299.4(BRCA1):c.21C>T (p.Arg7=) rs149402012
NM_007299.4(BRCA1):c.570C>T (p.Thr190=) rs201536070
NM_007299.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007299.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007299.4(BRCA1):c.787+1184A>G rs28897679
NM_007299.4(BRCA1):c.787+1248A>T rs80357082
NM_007299.4(BRCA1):c.787+1322A>G rs4986844
NM_007299.4(BRCA1):c.787+1671A>G rs56082113
NM_007299.4(BRCA1):c.787+1779T>C rs80356892
NM_007299.4(BRCA1):c.787+1809C>T rs41286300
NM_007299.4(BRCA1):c.788-899G>C rs56214134
NM_007300.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007300.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898
NM_007300.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007300.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007300.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007300.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007300.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007300.4(BRCA1):c.5068G>T (p.Ala1690Ser) rs80357087
NM_007300.4(BRCA1):c.5566C>T (p.Arg1856Ter) rs41293465

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