ClinVar Miner

List of variants in gene BRCA1 studied for Familial cancer of breast

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 450
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.671-248_671-246dup rs5820483 0.33157
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.5152+66G>A rs3092994 0.30314
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.5074+65G>A rs8176235 0.23738
NM_007294.4(BRCA1):c.5074+284C>A rs11654396 0.23139
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.1971A>G (p.Gln657=) rs28897679 0.00707
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
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.2109A>G (p.Thr703=) rs4986844 0.00147
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299 0.00107
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
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.807G>A (p.Leu269=) rs149867679 0.00022
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_007294.4(BRCA1):c.828A>G (p.Thr276=) rs186274774 0.00019
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847 0.00013
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00008
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273 0.00003
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_007294.4(BRCA1):c.4748G>A (p.Arg1583Lys) rs752624544 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895 0.00002
NM_007294.4(BRCA1):c.2808T>G (p.Asp936Glu) rs730881485 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp) rs80357176 0.00002
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys) rs80357445 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.213-11T>G rs80358061 0.00001
NM_007294.4(BRCA1):c.2362G>A (p.Val788Ile) rs80357060 0.00001
NM_007294.4(BRCA1):c.2765C>G (p.Thr922Arg) rs80357460 0.00001
NM_007294.4(BRCA1):c.4126A>G (p.Thr1376Ala) rs576828558 0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648 0.00001
NM_007294.4(BRCA1):c.4417T>C (p.Ser1473Pro) rs398122686 0.00001
NM_007294.4(BRCA1):c.4485-10A>G rs863224420 0.00001
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter) rs80357366 0.00001
NM_007294.4(BRCA1):c.465A>T (p.Gln155His) rs864622260 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter) rs80357418 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu) rs80357183 0.00001
NM_007294.4(BRCA1):c.655G>A (p.Asp219Asn) rs273902779 0.00001
NC_000017.11:g.43045086_43057213del
NM_001407648.1(BRCA1):c.548-2429del rs397509289
NM_007294.3(BRCA1):c.135-?_441+?del
NM_007294.3(BRCA1):c.2995C>A (p.Leu999Ile) rs80356848
NM_007294.3(BRCA1):c.302-?_441+?(2)
NM_007294.3(BRCA1):c.4186-?_4675+?del
NM_007294.3(BRCA1):c.4186-?_4986+?del
NM_007294.3(BRCA1):c.4358-?_5277+?del
NM_007294.3(BRCA1):c.442-?_547+?(2)
NM_007294.3(BRCA1):c.4485-?_4986+?del
NM_007294.3(BRCA1):c.4987-?_5074+?del
NM_007294.3(BRCA1):c.?-232_4484+?del
NM_007294.3:c.134+19insT
NM_007294.3:c.1363insT
NM_007294.3:c.3764insA
NM_007294.3:c.441+6insA
NM_007294.4(BRCA1):c.*39G>A
NM_007294.4(BRCA1):c.1033G>T (p.Asp345Tyr) rs80356961
NM_007294.4(BRCA1):c.1040del (p.Leu347fs) rs397508828
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter) rs80356935
NM_007294.4(BRCA1):c.1063A>T (p.Lys355Ter) rs397508829
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter) rs80357215
NM_007294.4(BRCA1):c.1076C>T (p.Pro359Leu) rs397508831
NM_007294.4(BRCA1):c.1080_1081insA (p.Ser361fs) rs397508832
NM_007294.4(BRCA1):c.1099A>G (p.Thr367Ala) rs878854929
NM_007294.4(BRCA1):c.1099dup (p.Thr367fs) rs397508835
NM_007294.4(BRCA1):c.1100dup (p.Thr367_Glu368insTer) rs397508836
NM_007294.4(BRCA1):c.1112del (p.Pro371fs) rs397508837
NM_007294.4(BRCA1):c.1119A>G (p.Ile373Met)
NM_007294.4(BRCA1):c.1122_1123del (p.Leu375fs) rs397508839
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs) rs876659327
NM_007294.4(BRCA1):c.1158_1159del (p.Ser387fs) rs397508842
NM_007294.4(BRCA1):c.1159dup (p.Ser387fs) rs397508842
NM_007294.4(BRCA1):c.1175_1178del (p.Leu392fs) rs397508844
NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter) rs80357068
NM_007294.4(BRCA1):c.1217del (p.Asn406fs) rs397508846
NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer) rs879255320
NM_007294.4(BRCA1):c.122del (p.His41fs) rs397508847
NM_007294.4(BRCA1):c.1232A>T (p.Asp411Val) rs730881469
NM_007294.4(BRCA1):c.1261G>T (p.Glu421Ter) rs80357046
NM_007294.4(BRCA1):c.1262A>G (p.Glu421Gly) rs397508849
NM_007294.4(BRCA1):c.1265_1266dup (p.Ser423fs) rs397508850
NM_007294.4(BRCA1):c.1279G>T (p.Glu427Ter) rs397508851
NM_007294.4(BRCA1):c.1293_1295delinsGA (p.Leu432fs) rs397508852
NM_007294.4(BRCA1):c.130T>C (p.Cys44Arg) rs80357327
NM_007294.4(BRCA1):c.130T>G (p.Cys44Gly) rs80357327
NM_007294.4(BRCA1):c.1319dup (p.Leu440fs) rs80357683
NM_007294.4(BRCA1):c.1320_1330del (p.Leu440_Ile441insTer) rs2154458213
NM_007294.4(BRCA1):c.1339dup (p.Val447fs) rs397508855
NM_007294.4(BRCA1):c.135-6T>G rs397508859
NM_007294.4(BRCA1):c.1363_1364insGA (p.Asn455fs) rs397508860
NM_007294.4(BRCA1):c.1380del (p.Phe461fs) rs397508863
NM_007294.4(BRCA1):c.1393T>G (p.Tyr465Asp) rs397508869
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.4(BRCA1):c.1458T>A (p.Phe486Leu) rs80357400
NM_007294.4(BRCA1):c.1483G>T (p.Glu495Ter) rs2053932763
NM_007294.4(BRCA1):c.1499_1508dup (p.Lys503_Arg504insTer) rs397508873
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1504_1518del (p.Leu502_Arg506del) rs397508875
NM_007294.4(BRCA1):c.1506_1510del (p.Leu502_Lys503insTer) rs397508876
NM_007294.4(BRCA1):c.1517_1521del (p.Arg506fs) rs397508879
NM_007294.4(BRCA1):c.1519A>T (p.Arg507Ter) rs397508880
NM_007294.4(BRCA1):c.1544A>G (p.Glu515Gly) rs397508881
NM_007294.4(BRCA1):c.1565_1566insC (p.Leu523fs) rs397508884
NM_007294.4(BRCA1):c.1570del (p.Ala524fs) rs397508886
NM_007294.4(BRCA1):c.1595_1601del (p.Ile532fs) rs397508888
NM_007294.4(BRCA1):c.160del (p.Gln54fs) rs397508890
NM_007294.4(BRCA1):c.1631A>C (p.Gln544Pro) rs397508892
NM_007294.4(BRCA1):c.1642A>G (p.Ile548Val) rs80356981
NM_007294.4(BRCA1):c.1655G>T (p.Gly552Val) rs397508893
NM_007294.4(BRCA1):c.1660G>T (p.Glu554Ter) rs397508894
NM_007294.4(BRCA1):c.1669A>G (p.Thr557Ala) rs397508895
NM_007294.4(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.4(BRCA1):c.167A>G (p.Lys56Arg) rs397508897
NM_007294.4(BRCA1):c.168A>T (p.Lys56Asn) rs397508898
NM_007294.4(BRCA1):c.1690A>C (p.Asn564His) rs397507191
NM_007294.4(BRCA1):c.1700del (p.Asn567fs) rs80357784
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter) rs730881473
NM_007294.4(BRCA1):c.1716dup (p.Ser573fs) rs397508900
NM_007294.4(BRCA1):c.1728del (p.Glu577fs) rs397507192
NM_007294.4(BRCA1):c.1741A>T (p.Lys581Ter) rs397508905
NM_007294.4(BRCA1):c.1744A>G (p.Thr582Ala) rs397508906
NM_007294.4(BRCA1):c.178_179del (p.Gln60fs) rs397508907
NM_007294.4(BRCA1):c.1796_1799del (p.Asn599fs) rs1380657206
NM_007294.4(BRCA1):c.1817del (p.Pro606fs) rs397508910
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del) rs587781614
NM_007294.4(BRCA1):c.1846dup (p.Ser616fs) rs397508914
NM_007294.4(BRCA1):c.1880T>G (p.Val627Gly) rs770002293
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.4(BRCA1):c.188T>C (p.Leu63Ser) rs80357086
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.190_193del (p.Cys64fs) rs397508917
NM_007294.4(BRCA1):c.1912del (p.Glu638fs) rs80357933
NM_007294.4(BRCA1):c.1932T>G (p.Cys644Trp) rs397508918
NM_007294.4(BRCA1):c.1952del (p.Lys651fs) rs80357885
NM_007294.4(BRCA1):c.1960A>G (p.Lys654Glu) rs80357355
NM_007294.4(BRCA1):c.1960_1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1963dup (p.Tyr655fs) rs397508924
NM_007294.4(BRCA1):c.1967A>G (p.Asn656Ser) rs397508925
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2012_2013dup (p.Lys672fs) rs397508928
NM_007294.4(BRCA1):c.2021del (p.Pro674fs) rs397508930
NM_007294.4(BRCA1):c.2028_2029del (p.Gly677fs) rs397508931
NM_007294.4(BRCA1):c.2048del (p.Lys683fs) rs397508933
NM_007294.4(BRCA1):c.2069A>G (p.Lys690Arg) rs2154401162
NM_007294.4(BRCA1):c.2075_2076del (p.His692fs) rs397508936
NM_007294.4(BRCA1):c.2079C>G (p.Asp693Glu)
NM_007294.4(BRCA1):c.2086del (p.Thr696fs) rs397508937
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.211dup (p.Arg71fs) rs397508938
NM_007294.4(BRCA1):c.2166del (p.Asn723fs) rs397508943
NM_007294.4(BRCA1):c.2174del (p.Ser725fs) rs397508944
NM_007294.4(BRCA1):c.2196del (p.Glu733fs) rs397508948
NM_007294.4(BRCA1):c.2210C>G (p.Thr737Arg) rs2154392997
NM_007294.4(BRCA1):c.2211_2212del (p.Thr737_Val738insTer) rs397508950
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs) rs80357802
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2241dup (p.Lys748fs) rs80357650
NM_007294.4(BRCA1):c.2253_2254del (p.Met751fs) rs80357602
NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser) rs80356884
NM_007294.4(BRCA1):c.2308del (p.Ser770fs) rs397508956
NM_007294.4(BRCA1):c.230C>G (p.Thr77Arg) rs80357209
NM_007294.4(BRCA1):c.230delinsGTCAACTTGTT (p.Thr77fs) rs397508957
NM_007294.4(BRCA1):c.2310_2311insC (p.Val772fs) rs1555589947
NM_007294.4(BRCA1):c.2325_2326insA (p.Asp776fs) rs397508959
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs) rs431825390
NM_007294.4(BRCA1):c.2333G>A (p.Gly778Asp) rs730881483
NM_007294.4(BRCA1):c.2389del (p.Glu797fs) rs397508965
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.2413T>C (p.Cys805Arg) rs397508966
NM_007294.4(BRCA1):c.2440_2441insA (p.Leu814fs) rs397508969
NM_007294.4(BRCA1):c.2486_2487del (p.Gly828_Phe829insTer) rs80357658
NM_007294.4(BRCA1):c.2551del (p.Glu851fs) rs397508977
NM_007294.4(BRCA1):c.2556del (p.Asp853fs) rs397508978
NM_007294.4(BRCA1):c.2556dup (p.Asp853Ter) rs397508978
NM_007294.4(BRCA1):c.2564_2565insTTGAT (p.Gln855delinsHisTer) rs397508982
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter) rs886038001
NM_007294.4(BRCA1):c.2600A>G (p.Gln867Arg) rs397508985
NM_007294.4(BRCA1):c.2603C>A (p.Ser868Ter) rs80356925
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.4(BRCA1):c.2659_2660insA (p.Ala887fs) rs397508991
NM_007294.4(BRCA1):c.2663A>T (p.His888Leu) rs876658843
NM_007294.4(BRCA1):c.2665dup (p.Ser889fs) rs397508992
NM_007294.4(BRCA1):c.266T>C (p.Ile89Thr) rs80357097
NM_007294.4(BRCA1):c.2671del (p.Ser891fs) rs397508993
NM_007294.4(BRCA1):c.2675T>C (p.Leu892Ser) rs397508994
NM_007294.4(BRCA1):c.2679_2680del (p.Lys894fs) rs397508995
NM_007294.4(BRCA1):c.2683del (p.Gln895fs) rs2154364983
NM_007294.4(BRCA1):c.2689_2690insA (p.Pro897fs) rs397508999
NM_007294.4(BRCA1):c.2728C>T (p.Gln910Ter) rs397509004
NM_007294.4(BRCA1):c.273T>G (p.Cys91Trp) rs397509006
NM_007294.4(BRCA1):c.2745dup (p.Asn916Ter) rs397509008
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs) rs80357822
NM_007294.4(BRCA1):c.2798_2799del (p.Gly933fs) rs397509011
NM_007294.4(BRCA1):c.2812_2813del (p.Pro938fs) rs730882056
NM_007294.4(BRCA1):c.2844_2853del (p.Gly949fs) rs397509017
NM_007294.4(BRCA1):c.2848dup (p.Ser950fs) rs397509018
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_007294.4(BRCA1):c.2870dup (p.Phe958fs) rs397509020
NM_007294.4(BRCA1):c.2872_2876del (p.Phe958fs) rs397509021
NM_007294.4(BRCA1):c.2879G>A (p.Gly960Asp) rs397509022
NM_007294.4(BRCA1):c.2881A>C (p.Asn961His) rs786203786
NM_007294.4(BRCA1):c.2921dup (p.Leu974fs) rs80357611
NM_007294.4(BRCA1):c.2929_2930dup (p.Tyr978fs) rs397509025
NM_007294.4(BRCA1):c.2938del (p.Ile980fs) rs730881439
NM_007294.4(BRCA1):c.2967del (p.Phe989fs) rs397509028
NM_007294.4(BRCA1):c.2998G>A (p.Glu1000Lys) rs80357124
NM_007294.4(BRCA1):c.3016del (p.His1006fs) rs2154347100
NM_007294.4(BRCA1):c.3058C>T (p.Pro1020Ser)
NM_007294.4(BRCA1):c.3072C>G (p.Ser1024Arg) rs397509033
NM_007294.4(BRCA1):c.3074C>T (p.Thr1025Ile) rs397509034
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.4(BRCA1):c.3125_3134del (p.Ser1042fs) rs397509036
NM_007294.4(BRCA1):c.3140T>C (p.Val1047Ala) rs397509037
NM_007294.4(BRCA1):c.3152C>G (p.Thr1051Ser) rs397509039
NM_007294.4(BRCA1):c.3157del (p.Glu1053fs) rs397509041
NM_007294.4(BRCA1):c.3157dup (p.Glu1053fs) rs397509042
NM_007294.4(BRCA1):c.3164del (p.Gly1055fs) rs397509043
NM_007294.4(BRCA1):c.3169_3172del (p.Ser1057fs) rs397509045
NM_007294.4(BRCA1):c.3183del (p.Ile1061fs) rs397509046
NM_007294.4(BRCA1):c.3211dup (p.Glu1071fs) rs397509047
NM_007294.4(BRCA1):c.329A>C (p.Lys110Thr) rs397509053
NM_007294.4(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.4(BRCA1):c.340T>C (p.Ser114Pro) rs397509062
NM_007294.4(BRCA1):c.346G>A (p.Glu116Lys) rs397509071
NM_007294.4(BRCA1):c.38_39delinsGGG (p.Asn13fs) rs1567823382
NM_007294.4(BRCA1):c.4116T>A (p.Cys1372Ter) rs397509140
NM_007294.4(BRCA1):c.4161_4162del (p.Gln1388fs) rs80357565
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4167del (p.Ser1389fs) rs397509145
NM_007294.4(BRCA1):c.4172T>C (p.Ile1391Thr) rs397509146
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4183_4185delCAG (p.Gln1396del) rs397509147
NM_007294.4(BRCA1):c.4185+1G>A rs80358076
NM_007294.4(BRCA1):c.4186-1G>A rs397509150
NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg) rs80356916
NM_007294.4(BRCA1):c.4237G>T (p.Glu1413Ter) rs397509153
NM_007294.4(BRCA1):c.4237del (p.Glu1413fs) rs2154157535
NM_007294.4(BRCA1):c.4242_4243insT (p.Glu1415Ter) rs397509155
NM_007294.4(BRCA1):c.4251_4252del (p.Leu1418fs) rs80357977
NM_007294.4(BRCA1):c.4253T>G (p.Leu1418Ter) rs397509157
NM_007294.4(BRCA1):c.4273C>T (p.Pro1425Ser) rs768327850
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4282_4283del (p.Ser1428fs) rs397509159
NM_007294.4(BRCA1):c.4307_4308del (p.Ser1436fs) rs397509161
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4342del (p.Ser1448fs) rs886040225
NM_007294.4(BRCA1):c.4343G>C (p.Ser1448Thr) rs80357354
NM_007294.4(BRCA1):c.4357+6T>G rs80358143
NM_007294.4(BRCA1):c.4372_4373del (p.Gln1458fs) rs879255317
NM_007294.4(BRCA1):c.437_440del (p.Ser146fs) rs397509168
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) rs273900730
NM_007294.4(BRCA1):c.4391dup (p.Ile1465fs) rs80357916
NM_007294.4(BRCA1):c.4396del (p.Ser1466fs) rs397509170
NM_007294.4(BRCA1):c.4406dup (p.Glu1470fs) rs2052734372
NM_007294.4(BRCA1):c.441+17del rs730881449
NM_007294.4(BRCA1):c.441+18CTT[6] rs147856441
NM_007294.4(BRCA1):c.4445A>G (p.Asp1482Gly) rs757726297
NM_007294.4(BRCA1):c.4447del (p.Ser1483fs) rs397509177
NM_007294.4(BRCA1):c.4450T>A (p.Ser1484Thr) rs80357404
NM_007294.4(BRCA1):c.4452_4455del (p.Thr1485fs) rs397509178
NM_007294.4(BRCA1):c.4456A>T (p.Ser1486Cys) rs397507232
NM_007294.4(BRCA1):c.4467del (p.Glu1490fs) rs2154059325
NM_007294.4(BRCA1):c.4471C>G (p.Pro1491Ala) rs111034213
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter) rs80356953
NM_007294.4(BRCA1):c.4534_4535del (p.Ser1512fs) rs397509183
NM_007294.4(BRCA1):c.457_458del (p.Ser153fs) rs397509185
NM_007294.4(BRCA1):c.4624_4628del (p.Ser1542fs) rs2153997899
NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter) rs80357180
NM_007294.4(BRCA1):c.4675+1G>T rs80358044
NM_007294.4(BRCA1):c.4697C>A (p.Ser1566Tyr) rs1060502325
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.470_477del (p.Ser157fs) rs397509190
NM_007294.4(BRCA1):c.472A>T (p.Asn158Tyr) rs397509192
NM_007294.4(BRCA1):c.4743A>C (p.Glu1581Asp) rs397509194
NM_007294.4(BRCA1):c.4764del (p.Arg1589fs) rs397509196
NM_007294.4(BRCA1):c.4777A>T (p.Ile1593Leu) rs397509197
NM_007294.4(BRCA1):c.4818del (p.Val1607fs) rs1555580883
NM_007294.4(BRCA1):c.4836dup (p.Ser1613fs) rs397509198
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.488del (p.Arg163fs) rs397509202
NM_007294.4(BRCA1):c.4910del (p.Pro1637fs) rs397509204
NM_007294.4(BRCA1):c.4921G>T (p.Ala1641Ser) rs1800726
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.4986+5G>A rs397509211
NM_007294.4(BRCA1):c.4986+5G>T rs397509211
NM_007294.4(BRCA1):c.4987-5T>C rs397509214
NM_007294.4(BRCA1):c.4994T>A (p.Val1665Glu) rs1476854015
NM_007294.4(BRCA1):c.4996T>C (p.Tyr1666His) rs397509215
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5049_5050dup (p.Thr1684fs) rs2153700736
NM_007294.4(BRCA1):c.5058T>A (p.His1686Gln) rs397509218
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala) rs397509219
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg) rs80357034
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5075-1G>T rs1800747
NM_007294.4(BRCA1):c.5075-4G>A rs397509220
NM_007294.4(BRCA1):c.5075_5078del (p.Asp1692fs) rs397509223
NM_007294.4(BRCA1):c.5077_5080delinsTTCATTCTGC (p.Ala1693_Glu1694delinsPheIleLeuGln) rs397509224
NM_007294.4(BRCA1):c.5087T>A (p.Val1696Glu) rs397509226
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.4(BRCA1):c.5152+4A>G rs397509232
NM_007294.4(BRCA1):c.5153-1G>T rs80358137
NM_007294.4(BRCA1):c.5153-26A>G rs80358109
NM_007294.4(BRCA1):c.5153-2A>C rs786202545
NM_007294.4(BRCA1):c.5179_5192del (p.Lys1727fs) rs397509234
NM_007294.4(BRCA1):c.5182del (p.Met1728fs) rs34570933
NM_007294.4(BRCA1):c.5191G>A (p.Glu1731Lys) rs397507244
NM_007294.4(BRCA1):c.5193+3_5193+4insT rs2153552780
NM_007294.4(BRCA1):c.5194-2A>C rs80358069
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.5201T>C (p.Phe1734Ser) rs397509237
NM_007294.4(BRCA1):c.5203G>A (p.Glu1735Lys) rs397509238
NM_007294.4(BRCA1):c.5205del (p.Val1736fs) rs587781258
NM_007294.4(BRCA1):c.5207del (p.Val1736fs) rs397509239
NM_007294.4(BRCA1):c.5209dup (p.Arg1737fs) rs886040278
NM_007294.4(BRCA1):c.520C>T (p.Gln174Ter) rs1567806048
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5231del (p.Arg1744fs) rs397509241
NM_007294.4(BRCA1):c.523A>G (p.Lys175Glu) rs1567806027
NM_007294.4(BRCA1):c.5241A>C (p.Gln1747His) rs397509242
NM_007294.4(BRCA1):c.5242G>A (p.Gly1748Ser) rs397507245
NM_007294.4(BRCA1):c.5245C>G (p.Pro1749Ala) rs397509244
NM_007294.4(BRCA1):c.5258G>A (p.Arg1753Lys) rs397509246
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr) rs397509246
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5270_5276del (p.Asp1757fs) rs397509248
NM_007294.4(BRCA1):c.5277+1G>C rs80358150
NM_007294.4(BRCA1):c.5277+21T>G rs397509249
NM_007294.4(BRCA1):c.5277+3A>C rs397509250
NM_007294.4(BRCA1):c.5277+4A>T rs397509251
NM_007294.4(BRCA1):c.5277+5A>T rs397509252
NM_007294.4(BRCA1):c.5278-2A>T rs397509253
NM_007294.4(BRCA1):c.5278-6_5278-4del rs397509254
NM_007294.4(BRCA1):c.5293G>T (p.Glu1765Ter) rs397509256
NM_007294.4(BRCA1):c.5323_5324del (p.Met1775fs) rs397509262
NM_007294.4(BRCA1):c.5332+1del rs397509263
NM_007294.4(BRCA1):c.5332G>C (p.Asp1778His) rs80357112
NM_007294.4(BRCA1):c.5332G>T (p.Asp1778Tyr) rs80357112
NM_007294.4(BRCA1):c.5333-6T>G rs397509266
NM_007294.4(BRCA1):c.5355G>T (p.Gln1785His) rs397509269
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys) rs397509271
NM_007294.4(BRCA1):c.5369_5385del (p.Ser1790fs) rs397509272
NM_007294.4(BRCA1):c.536A>T (p.Tyr179Phe) rs56187033
NM_007294.4(BRCA1):c.536del (p.Tyr179fs) rs397509273
NM_007294.4(BRCA1):c.5377A>T (p.Lys1793Ter) rs397509274
NM_007294.4(BRCA1):c.5382G>T (p.Glu1794Asp) rs397509275
NM_007294.4(BRCA1):c.5414A>C (p.His1805Pro) rs397509281
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs) rs80357558
NM_007294.4(BRCA1):c.5422G>T (p.Val1808Leu) rs1555574756
NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser) rs398122698
NM_007294.4(BRCA1):c.5467+5G>C rs397509287
NM_007294.4(BRCA1):c.5467+8G>T rs80358062
NM_007294.4(BRCA1):c.547+6G>A rs1400635407
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5497_5506del (p.Val1833fs) rs273902775
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn) rs80357368
NM_007294.4(BRCA1):c.5532_5533insG (p.Tyr1845fs) rs397509293
NM_007294.4(BRCA1):c.5559C>G (p.Tyr1853Ter) rs80357336
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro) rs80356996
NM_007294.4(BRCA1):c.556T>G (p.Ser186Ala) rs397509298
NM_007294.4(BRCA1):c.557C>T (p.Ser186Phe) rs55688530
NM_007294.4(BRCA1):c.594-2A>G rs80358033
NM_007294.4(BRCA1):c.624_625insAGGGATGAAATCAGGAGCCA (p.Pro209fs) rs397509302
NM_007294.4(BRCA1):c.62dup (p.Glu23fs) rs397509303
NM_007294.4(BRCA1):c.64_65del (p.Leu22fs) rs397509304
NM_007294.4(BRCA1):c.668A>G (p.Lys223Arg) rs397509306
NM_007294.4(BRCA1):c.66_67insC (p.Glu23fs) rs1555600909
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.671-1G>T rs80358020
NM_007294.4(BRCA1):c.671-6T>G rs878854964
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.677_678insC (p.Cys226_Glu227insTer) rs397509307
NM_007294.4(BRCA1):c.678T>A (p.Cys226Ter) rs397509308
NM_007294.4(BRCA1):c.689_692del (p.Glu230fs) rs886040308
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.724A>G (p.Ser242Gly) rs1555593258
NM_007294.4(BRCA1):c.72_73del (p.Pro25fs) rs397509311
NM_007294.4(BRCA1):c.737del (p.Asp245_Leu246insTer) rs397509312
NM_007294.4(BRCA1):c.73C>A (p.Pro25Thr) rs397509313
NM_007294.4(BRCA1):c.742dup (p.Thr248fs) rs397509314
NM_007294.4(BRCA1):c.75_80dup (p.Cys27_Leu28insIleCys) rs397509315
NM_007294.4(BRCA1):c.768_769insA (p.His257fs) rs397509316
NM_007294.4(BRCA1):c.768_769insAG (p.His257fs) rs1555593156
NM_007294.4(BRCA1):c.787G>T (p.Gly263Cys) rs397509318
NM_007294.4(BRCA1):c.788G>C (p.Gly263Ala) rs397509319
NM_007294.4(BRCA1):c.788G>T (p.Gly263Val) rs397509319
NM_007294.4(BRCA1):c.790A>T (p.Ser264Cys) rs397509321
NM_007294.4(BRCA1):c.791G>A (p.Ser264Asn) rs397509322
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.80+6_80+9del rs397509325
NM_007294.4(BRCA1):c.804C>G (p.Asn268Lys) rs771076131
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.81-6T>A rs80358179
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu) rs80357244
NM_007294.4(BRCA1):c.814_824dup (p.Thr276fs) rs1555593031
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.827C>T (p.Thr276Ile)
NM_007294.4(BRCA1):c.827_828insT (p.Asn277fs) rs397509329
NM_007294.4(BRCA1):c.8T>G (p.Leu3Ter) rs397509332
NM_007294.4(BRCA1):c.903_904insC (p.Ala302fs) rs397509333
NM_007294.4(BRCA1):c.909del (p.Glu303fs) rs397509334
NM_007294.4(BRCA1):c.938T>G (p.Leu313Ter) rs1407786310
NM_007294.4(BRCA1):c.961del (p.Trp321fs) rs397509340
NM_007294.4(BRCA1):c.968del (p.Gly323fs) rs2154481843
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772
NM_007294.4(BRCA1):c.985_986del (p.Cys328_Asn329insTer) rs397509341

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