ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 502
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HGVS dbSNP
NM_007294.3(BRCA1):c.1016del (p.Lys339fs) rs80357569
NM_007294.3(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.3(BRCA1):c.1018del (p.Lys339_Val340insTer) rs80357774
NM_007294.3(BRCA1):c.1039_1040del (p.Leu347fs) rs397508827
NM_007294.3(BRCA1):c.1054G>T (p.Glu352Ter) rs80357472
NM_007294.3(BRCA1):c.1054del (p.Glu352fs) rs886039926
NM_007294.3(BRCA1):c.1058G>A (p.Trp353Ter) rs80356908
NM_007294.3(BRCA1):c.1059G>A (p.Trp353Ter) rs80356935
NM_007294.3(BRCA1):c.1066C>T (p.Gln356Ter) rs80357215
NM_007294.3(BRCA1):c.1067del (p.Gln356fs) rs80357796
NM_007294.3(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.3(BRCA1):c.1110del (p.Pro371fs) rs1555592474
NM_007294.3(BRCA1):c.1116G>A (p.Trp372Ter) rs80357468
NM_007294.3(BRCA1):c.1127del (p.Asn376fs) rs80357821
NM_007294.3(BRCA1):c.112_113del (p.Lys38fs) rs80357949
NM_007294.3(BRCA1):c.115_116TG[1] (p.Cys39_Asp40delinsTer) rs80357972
NM_007294.3(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498
NM_007294.3(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.3(BRCA1):c.1176_1215del (p.Leu393fs) rs1555592157
NM_007294.3(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.3(BRCA1):c.1205dup (p.Ser403fs) rs1555592219
NM_007294.3(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.3(BRCA1):c.1287dupA (p.Asp430Argfs) rs80357576
NM_007294.3(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.3(BRCA1):c.130del (p.Cys44fs) rs80357951
NM_007294.3(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.1321_1322AT[1] (p.Ile441fs) rs80357570
NM_007294.3(BRCA1):c.1326T>A (p.Cys442Ter) rs397508854
NM_007294.3(BRCA1):c.1335_1336del (p.Arg446fs) rs80357978
NM_007294.3(BRCA1):c.135-1G>A rs80358158
NM_007294.3(BRCA1):c.135-1G>T rs80358158
NM_007294.3(BRCA1):c.1356_1357AG[2] (p.Glu453_Ser454insTer) rs80357969
NM_007294.3(BRCA1):c.1380dup (p.Phe461fs) rs80357714
NM_007294.3(BRCA1):c.1386del (p.Thr464fs) rs80357722
NM_007294.3(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs) rs80357770
NM_007294.3(BRCA1):c.1389_1390delinsG (p.Thr464fs) rs273897659
NM_007294.3(BRCA1):c.143del (p.Met48fs) rs80357637
NM_007294.3(BRCA1):c.1465G>T (p.Glu489Ter) rs80357167
NM_007294.3(BRCA1):c.1471C>T (p.Gln491Ter) rs62625303
NM_007294.3(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.3(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.3(BRCA1):c.1508del (p.Lys503fs) rs80357506
NM_007294.3(BRCA1):c.1512dup (p.Lys505Ter) rs398122636
NM_007294.3(BRCA1):c.1529C>A (p.Ser510Ter) rs80357427
NM_007294.3(BRCA1):c.1556del (p.Lys519fs) rs80357662
NM_007294.3(BRCA1):c.1600C>T (p.Gln534Ter) rs142074233
NM_007294.3(BRCA1):c.1601_1602del (p.Gln534fs) rs878854933
NM_007294.3(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.3(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.3(BRCA1):c.1695dup (p.Lys566fs) rs273897664
NM_007294.3(BRCA1):c.1713_1717del (p.Glu572fs) rs80357640
NM_007294.3(BRCA1):c.1714G>T (p.Glu572Ter) rs730881473
NM_007294.3(BRCA1):c.171del (p.Pro58fs) rs80357660
NM_007294.3(BRCA1):c.1757del (p.Pro586fs) rs80357723
NM_007294.3(BRCA1):c.178C>T (p.Gln60Ter) rs80357471
NM_007294.3(BRCA1):c.1812del (p.Ala605fs) rs80357927
NM_007294.3(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.3(BRCA1):c.1860del (p.His621fs) rs730881459
NM_007294.3(BRCA1):c.1874_1877dupTAGT (p.Val627Serfs) rs80357516
NM_007294.3(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.3(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.3(BRCA1):c.190T>G (p.Cys64Gly) rs80357064
NM_007294.3(BRCA1):c.1916T>A (p.Leu639Ter) rs80357267
NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.3(BRCA1):c.1953_1956delGAAA (p.Lys653Serfs) rs80357526
NM_007294.3(BRCA1):c.1953dupG (p.Lys652Glufs) rs80357753
NM_007294.3(BRCA1):c.195del (p.Asn66fs) rs80357869
NM_007294.3(BRCA1):c.1960A>T (p.Lys654Ter) rs80357355
NM_007294.3(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.3(BRCA1):c.1969C>T (p.Gln657Ter) rs397508926
NM_007294.3(BRCA1):c.1999C>T (p.Gln667Ter) rs80356889
NM_007294.3(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.3(BRCA1):c.2017G>T (p.Glu673Ter) rs80357391
NM_007294.3(BRCA1):c.2019del (p.Glu673fs) rs80357626
NM_007294.3(BRCA1):c.203_204delTA rs398122651
NM_007294.3(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.3(BRCA1):c.2101A>T (p.Lys701Ter) rs876660282
NM_007294.3(BRCA1):c.2105dup (p.Leu702fs) rs80357880
NM_007294.3(BRCA1):c.212+1G>A rs80358042
NM_007294.3(BRCA1):c.212+1G>T rs80358042
NM_007294.3(BRCA1):c.2125_2126insA (p.Phe709fs) rs80357871
NM_007294.3(BRCA1):c.2130delinsAA (p.Cys712fs) rs1060502332
NM_007294.3(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233
NM_007294.3(BRCA1):c.2157dup (p.Glu720fs) rs80357715
NM_007294.3(BRCA1):c.2158G>T (p.Glu720Ter) rs80356875
NM_007294.3(BRCA1):c.2158_2159del (p.Glu720fs) rs1567796780
NM_007294.3(BRCA1):c.2194G>T (p.Glu732Ter) rs80357426
NM_007294.3(BRCA1):c.2197G>T (p.Glu733Ter) rs397508949
NM_007294.3(BRCA1):c.2197_2201del (p.Glu733fs) rs80357507
NM_007294.3(BRCA1):c.2199del (p.Lys734fs) rs80357944
NM_007294.3(BRCA1):c.2209del (p.Thr737fs) rs1060502333
NM_007294.3(BRCA1):c.220C>T (p.Gln74Ter) rs80357234
NM_007294.3(BRCA1):c.2210_2211del (p.Thr737fs) rs80357654
NM_007294.3(BRCA1):c.2213_2214dup (p.Lys739fs) rs80357574
NM_007294.3(BRCA1):c.2214del (p.Val740fs) rs80357574
NM_007294.3(BRCA1):c.2214dup (p.Lys739Ter) rs80357574
NM_007294.3(BRCA1):c.2216_2217del (p.Lys739fs) rs80357802
NM_007294.3(BRCA1):c.2263del (p.Glu755fs) rs80357960
NM_007294.3(BRCA1):c.2269del (p.Val757fs) rs80357583
NM_007294.3(BRCA1):c.2292_2293AG[2] (p.Glu765_Ser766insTer) rs80357780
NM_007294.3(BRCA1):c.2293G>T (p.Glu765Ter) rs80357449
NM_007294.3(BRCA1):c.2299del (p.Ser767fs) rs80357786
NM_007294.3(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.3(BRCA1):c.2331T>G (p.Tyr777Ter) rs80357444
NM_007294.3(BRCA1):c.2331_2332dup (p.Gly778fs) rs431825390
NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.3(BRCA1):c.2389_2390del (p.Glu797fs) rs80357695
NM_007294.3(BRCA1):c.2401_2402TG[2] (p.Val802fs) rs80357706
NM_007294.3(BRCA1):c.2409_2410del (p.Ser803fs) rs1555589728
NM_007294.3(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.3(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.3(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.3(BRCA1):c.2475del (p.Asp825fs) rs80357970
NM_007294.3(BRCA1):c.2481del (p.Gly828fs) rs886040042
NM_007294.3(BRCA1):c.2488_2497dup (p.Leu833Ter) rs397508973
NM_007294.3(BRCA1):c.2488_2504dup (p.His835fs) rs483353078
NM_007294.3(BRCA1):c.2515del (p.His839fs) rs80357607
NM_007294.3(BRCA1):c.2551G>T (p.Glu851Ter) rs398122662
NM_007294.3(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.3(BRCA1):c.2599C>T (p.Gln867Ter) rs886038001
NM_007294.3(BRCA1):c.2603C>G (p.Ser868Ter) rs80356925
NM_007294.3(BRCA1):c.2612_2613insT (p.Phe872fs) rs80357948
NM_007294.3(BRCA1):c.2612delinsTT (p.Pro871fs) rs397508986
NM_007294.3(BRCA1):c.2641G>T (p.Glu881Ter) rs397508988
NM_007294.3(BRCA1):c.2652dup (p.Phe885fs) rs886040059
NM_007294.3(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.3(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.3(BRCA1):c.2694dup (p.Val899fs) rs80357549
NM_007294.3(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717
NM_007294.3(BRCA1):c.2709_2710delTG rs886040065
NM_007294.3(BRCA1):c.2719_2722del (p.Glu907fs) rs80357731
NM_007294.3(BRCA1):c.2726dupA (p.Asn909Lysfs) rs80357614
NM_007294.3(BRCA1):c.2754_2755insGGGTG (p.Pro919fs) rs1064793468
NM_007294.3(BRCA1):c.2760_2763ACAG[1] (p.Thr922fs) rs80357822
NM_007294.3(BRCA1):c.2762del (p.Gln921fs) rs80357703
NM_007294.3(BRCA1):c.2766del (p.Val923fs) rs80357812
NM_007294.3(BRCA1):c.2767_2770del (p.Val923fs) rs80357661
NM_007294.3(BRCA1):c.2800C>T (p.Gln934Ter) rs80357223
NM_007294.3(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.3(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.3(BRCA1):c.2835dupT (p.Ile946Tyrfs) rs80357519
NM_007294.3(BRCA1):c.2856_2857del (p.Phe952fs) rs397509019
NM_007294.3(BRCA1):c.2861dup (p.Ser955fs) rs886040079
NM_007294.3(BRCA1):c.2864C>A (p.Ser955Ter) rs80357295
NM_007294.3(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_007294.3(BRCA1):c.2867del (p.Ser956fs) rs1555588818
NM_007294.3(BRCA1):c.2875A>T (p.Arg959Ter) rs1401324575
NM_007294.3(BRCA1):c.2923C>T (p.Gln975Ter) rs80357497
NM_007294.3(BRCA1):c.2934T>G (p.Tyr978Ter) rs80357115
NM_007294.3(BRCA1):c.2940del (p.Pro981fs) rs80357876
NM_007294.3(BRCA1):c.2959A>T (p.Lys987Ter) rs878854941
NM_007294.3(BRCA1):c.2963C>A (p.Ser988Ter) rs397507206
NM_007294.3(BRCA1):c.2983A>T (p.Lys995Ter) rs879255315
NM_007294.3(BRCA1):c.2989_2990dup (p.Asn997fs) rs80357829
NM_007294.3(BRCA1):c.2990del (p.Asn997fs) rs80357829
NM_007294.3(BRCA1):c.2995_2996delinsTA (p.Leu999Ter) rs273899692
NM_007294.3(BRCA1):c.2999del (p.Glu1000fs) rs80357991
NM_007294.3(BRCA1):c.3005delA (p.Asn1002Thrfs) rs80357601
NM_007294.3(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer) rs80357617
NM_007294.3(BRCA1):c.302-2delA rs273899695
NM_007294.3(BRCA1):c.3029_3030del (p.Pro1010fs) rs80357510
NM_007294.3(BRCA1):c.303T>G (p.Tyr101Ter) rs80356936
NM_007294.3(BRCA1):c.3048_3052dupTGAGA (p.Asn1018Metfs) rs80357856
NM_007294.3(BRCA1):c.3066del (p.Thr1022_Val1023insTer) rs786202906
NM_007294.3(BRCA1):c.3084_3094del (p.Asn1029fs) rs80357647
NM_007294.3(BRCA1):c.3108dup (p.Lys1037Ter) rs80357841
NM_007294.3(BRCA1):c.310dup (p.Ser104fs) rs1555596484
NM_007294.3(BRCA1):c.3113_3114del (p.Glu1038fs) rs1567792876
NM_007294.3(BRCA1):c.3129_3138del (p.Asn1043fs) rs730881462
NM_007294.3(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.3(BRCA1):c.3193dup (p.Asp1065fs) rs80357511
NM_007294.3(BRCA1):c.3226_3227AG[1] (p.Gly1077fs) rs80357635
NM_007294.3(BRCA1):c.3253dupA (p.Arg1085Lysfs) rs80357517
NM_007294.3(BRCA1):c.3257T>G (p.Leu1086Ter) rs80357006
NM_007294.3(BRCA1):c.3262del (p.Val1088fs) rs397509049
NM_007294.3(BRCA1):c.3279del (p.Tyr1094fs) rs397509050
NM_007294.3(BRCA1):c.3285del (p.Lys1095fs) rs397509051
NM_007294.3(BRCA1):c.3286C>T (p.Gln1096Ter) rs80357485
NM_007294.3(BRCA1):c.3286del (p.Gln1096fs) rs80357533
NM_007294.3(BRCA1):c.3288_3289del (p.Leu1098fs) rs80357686
NM_007294.3(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.3(BRCA1):c.3307_3308insC (p.Cys1103fs) rs1555587988
NM_007294.3(BRCA1):c.3329dupA (p.Gln1111Alafs) rs80357575
NM_007294.3(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.3(BRCA1):c.3333del (p.Glu1112fs) rs80357966
NM_007294.3(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.3(BRCA1):c.3352C>T (p.Gln1118Ter) rs397507215
NM_007294.3(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer) rs80357945
NM_007294.3(BRCA1):c.3365_3366del (p.Thr1122fs) rs80357892
NM_007294.3(BRCA1):c.3371_3372TC[2] (p.Pro1126fs) rs80357828
NM_007294.3(BRCA1):c.3388del (p.Ser1130fs) rs886040123
NM_007294.3(BRCA1):c.3389C>G (p.Ser1130Ter) rs80357405
NM_007294.3(BRCA1):c.3398T>A (p.Leu1133Ter) rs80356971
NM_007294.3(BRCA1):c.3400G>T (p.Glu1134Ter) rs80357018
NM_007294.3(BRCA1):c.3403C>T (p.Gln1135Ter) rs80357136
NM_007294.3(BRCA1):c.3412G>T (p.Gly1138Ter) rs886040126
NM_007294.3(BRCA1):c.3424del (p.Ala1142fs) rs1555587718
NM_007294.3(BRCA1):c.3477_3480del (p.Ile1159fs) rs80357781
NM_007294.3(BRCA1):c.3481G>T (p.Glu1161Ter) rs786203438
NM_007294.3(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.3(BRCA1):c.3485del (p.Asp1162fs) rs80357509
NM_007294.3(BRCA1):c.3514G>T (p.Glu1172Ter) rs397509079
NM_007294.3(BRCA1):c.3531del (p.Phe1177fs) rs80357621
NM_007294.3(BRCA1):c.3535A>T (p.Lys1179Ter) rs587782188
NM_007294.3(BRCA1):c.3553G>T (p.Glu1185Ter) rs397509081
NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308
NM_007294.3(BRCA1):c.3612del (p.Ala1206fs) rs80357980
NM_007294.3(BRCA1):c.361dup (p.Glu121fs) rs886040152
NM_007294.3(BRCA1):c.3627dupA (p.Glu1210Argfs) rs80357729
NM_007294.3(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.3(BRCA1):c.3640_3641GA[1] (p.Asn1215fs) rs80357805
NM_007294.3(BRCA1):c.3648dupA (p.Ser1217Ilefs) rs80357902
NM_007294.3(BRCA1):c.3661G>T (p.Glu1221Ter) rs80357310
NM_007294.3(BRCA1):c.3664G>T (p.Glu1222Ter) rs80357356
NM_007294.3(BRCA1):c.3668_3671dupTTCC (p.Cys1225Serfs) rs80357797
NM_007294.3(BRCA1):c.3672del (p.Cys1225fs) rs398122677
NM_007294.3(BRCA1):c.3675C>A (p.Cys1225Ter) rs879254023
NM_007294.3(BRCA1):c.3695_3699GTAAA[1] (p.Val1234fs) rs80357609
NM_007294.3(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer) rs797044631
NM_007294.3(BRCA1):c.3706_3713del (p.Asn1236fs) rs80357552
NM_007294.3(BRCA1):c.3710del (p.Ile1237fs) rs80357564
NM_007294.3(BRCA1):c.3718C>T (p.Gln1240Ter) rs80356903
NM_007294.3(BRCA1):c.374dup (p.Gln126fs) rs1555596392
NM_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.3(BRCA1):c.3759_3760del (p.Lys1254fs) rs80357520
NM_007294.3(BRCA1):c.3764dupA (p.Asn1255Lysfs) rs80357848
NM_007294.3(BRCA1):c.3767_3768delCA rs730881440
NM_007294.3(BRCA1):c.3768_3769AG[1] (p.Glu1257fs) rs80357579
NM_007294.3(BRCA1):c.376C>T (p.Gln126Ter) rs1085307902
NM_007294.3(BRCA1):c.3771_3772delinsC (p.Glu1257fs) rs397507218
NM_007294.3(BRCA1):c.3779T>G (p.Leu1260Ter) rs886038025
NM_007294.3(BRCA1):c.37_40del (p.Asn13fs) rs80357530
NM_007294.3(BRCA1):c.3839_3843delinsAGGC (p.Ser1280_Gln1281delinsTer) rs273900717
NM_007294.3(BRCA1):c.3841C>T (p.Gln1281Ter) rs80356866
NM_007294.3(BRCA1):c.3858_3861del (p.Ser1286fs) rs80357842
NM_007294.3(BRCA1):c.3869_3870del (p.Lys1290fs) rs80357918
NM_007294.3(BRCA1):c.3893C>A (p.Ser1298Ter) rs80357440
NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.3(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer) rs1064793054
NM_007294.3(BRCA1):c.3904G>T (p.Glu1302Ter) rs80357461
NM_007294.3(BRCA1):c.3908_3909delinsAGT (p.Leu1303Ter) rs886040174
NM_007294.3(BRCA1):c.3908dup (p.Leu1303fs) rs80357634
NM_007294.3(BRCA1):c.391A>T (p.Arg131Ter) rs80357207
NM_007294.3(BRCA1):c.3937C>T (p.Gln1313Ter) rs80357318
NM_007294.3(BRCA1):c.3967del (p.Gln1323fs) rs397509122
NM_007294.3(BRCA1):c.397del (p.Arg133fs) rs886037973
NM_007294.3(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.3(BRCA1):c.4039_4040AG[1] (p.Gly1348fs) rs80357727
NM_007294.3(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.3(BRCA1):c.406dupA (p.Arg136Lysfs) rs80357709
NM_007294.3(BRCA1):c.4088C>G (p.Ser1363Ter) rs398122680
NM_007294.3(BRCA1):c.4094T>G (p.Leu1365Ter) rs398122681
NM_007294.3(BRCA1):c.4097-2A>C rs80358019
NM_007294.3(BRCA1):c.4097-2A>G rs80358019
NM_007294.3(BRCA1):c.4113del (p.Cys1372fs) rs80357861
NM_007294.3(BRCA1):c.4116_4117insTT (p.Glu1373fs) rs398122682
NM_007294.3(BRCA1):c.4117G>T (p.Glu1373Ter) rs80357259
NM_007294.3(BRCA1):c.4118_4119AG[1] (p.Glu1373_Ser1374insTer) rs80357787
NM_007294.3(BRCA1):c.411dup (p.Leu138fs) rs886040205
NM_007294.3(BRCA1):c.4136_4137delCT rs397509141
NM_007294.3(BRCA1):c.4137del (p.Glu1380fs) rs1064793746
NM_007294.3(BRCA1):c.4146_4155dup (p.Ser1386fs) rs483353079
NM_007294.3(BRCA1):c.4159_4160TC[1] (p.Gln1388fs) rs80357565
NM_007294.3(BRCA1):c.4163_4164AG[1] (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.3(BRCA1):c.4182_4183dup (p.Gln1395fs) rs80357742
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.4185G>A (p.Gln1395=) rs80356857
NM_007294.3(BRCA1):c.4186C>T (p.Gln1396Ter) rs80357011
NM_007294.3(BRCA1):c.4201C>T (p.Gln1401Ter) rs397509151
NM_007294.3(BRCA1):c.4222C>T (p.Gln1408Ter) rs80356989
NM_007294.3(BRCA1):c.4225C>T (p.Gln1409Ter) rs886040218
NM_007294.3(BRCA1):c.4240dup (p.Leu1414fs) rs397509154
NM_007294.3(BRCA1):c.4243del (p.Glu1415fs) rs80357981
NM_007294.3(BRCA1):c.424_431del (p.Pro142fs) rs1555596294
NM_007294.3(BRCA1):c.4258C>T (p.Gln1420Ter) rs80357305
NM_007294.3(BRCA1):c.4335_4338dup (p.Gln1447fs) rs397509164
NM_007294.3(BRCA1):c.4354A>T (p.Lys1452Ter) rs398122685
NM_007294.3(BRCA1):c.4357+1G>A rs80358027
NM_007294.3(BRCA1):c.4357+2T>G rs80358152
NM_007294.3(BRCA1):c.4372C>T (p.Gln1458Ter) rs80356932
NM_007294.3(BRCA1):c.4386dup (p.Tyr1463fs) rs786204267
NM_007294.3(BRCA1):c.4389C>A (p.Tyr1463Ter) rs80356997
NM_007294.3(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) rs273900730
NM_007294.3(BRCA1):c.4392del (p.Pro1464_Ile1465insTer) rs1064793577
NM_007294.3(BRCA1):c.4400_4418delinsTTT (p.Gln1467fs) rs876659310
NM_007294.3(BRCA1):c.4412del (p.Gly1471fs) rs1064793951
NM_007294.3(BRCA1):c.4484+1G>A rs80358063
NM_007294.3(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.3(BRCA1):c.4484G>C (p.Arg1495Thr) rs80357389
NM_007294.3(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.3(BRCA1):c.4485-1G>A rs80358189
NM_007294.3(BRCA1):c.4485-1G>T rs80358189
NM_007294.3(BRCA1):c.4485-2A>G rs80358054
NM_007294.3(BRCA1):c.4493del (p.Pro1498fs) rs398122687
NM_007294.3(BRCA1):c.4508C>A (p.Ser1503Ter) rs80357437
NM_007294.3(BRCA1):c.4508C>G (p.Ser1503Ter) rs80357437
NM_007294.3(BRCA1):c.4523G>A (p.Trp1508Ter) rs786202631
NM_007294.3(BRCA1):c.4523_4526delinsTGCCCATCATTAGATGAG (p.Trp1508_Tyr1509delinsLeuProIleIleArgTer) rs1064794004
NM_007294.3(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.3(BRCA1):c.4527C>A (p.Tyr1509Ter) rs886040233
NM_007294.3(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.3(BRCA1):c.457_458ins21 (p.?)
NM_007294.3(BRCA1):c.4603G>T (p.Glu1535Ter) rs80357366
NM_007294.3(BRCA1):c.4609C>T (p.Gln1537Ter) rs80357229
NM_007294.3(BRCA1):c.4611_4612insG (p.Gln1538fs) rs80357915
NM_007294.3(BRCA1):c.4612C>T (p.Gln1538Ter) rs80356992
NM_007294.3(BRCA1):c.4625_4626del (p.Ser1542fs) rs80357542
NM_007294.3(BRCA1):c.4655_4658del (p.Tyr1552fs) rs80357561
NM_007294.3(BRCA1):c.466_467CT[2] (p.Leu156_Ser157insTer) rs80357887
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.4676-2A>G rs80358096
NM_007294.3(BRCA1):c.4678G>T (p.Gly1560Ter) rs80357349
NM_007294.3(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433
NM_007294.3(BRCA1):c.4698_4704dupTGGAATC rs879255318
NM_007294.3(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer) rs80357718
NM_007294.3(BRCA1):c.4724del (p.Pro1575fs) rs397509191
NM_007294.3(BRCA1):c.4754_4755del (p.Pro1585fs) rs80357837
NM_007294.3(BRCA1):c.4760C>G (p.Ser1587Ter) rs397509195
NM_007294.3(BRCA1):c.4787C>A (p.Ser1596Ter) rs80357429
NM_007294.3(BRCA1):c.4810C>T (p.Gln1604Ter) rs80357352
NM_007294.3(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs) rs730880287
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4885del (p.Glu1629fs) rs886040254
NM_007294.3(BRCA1):c.4936del (p.Val1646fs) rs80357653
NM_007294.3(BRCA1):c.4945del (p.Arg1649fs) rs80357655
NM_007294.3(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.3(BRCA1):c.4976del (p.Pro1659fs) rs879255295
NM_007294.3(BRCA1):c.4986+6T>C rs80358086
NM_007294.3(BRCA1):c.4986+6T>G rs80358086
NM_007294.3(BRCA1):c.4987-2A>G rs397509212
NM_007294.3(BRCA1):c.4997dup (p.Tyr1666Ter) rs876658947
NM_007294.3(BRCA1):c.4999A>T (p.Lys1667Ter) rs80357204
NM_007294.3(BRCA1):c.5021dup (p.Thr1675fs) rs1555579721
NM_007294.3(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.3(BRCA1):c.5030_5034CTAAT[1] (p.Leu1679fs) rs80357623
NM_007294.3(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.3(BRCA1):c.5042del (p.Thr1681fs) rs886040265
NM_007294.3(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.3(BRCA1):c.5059_5061GTT[1] (p.Val1688del) rs80358344
NM_007294.3(BRCA1):c.5074+1G>A rs80358053
NM_007294.3(BRCA1):c.5074+1G>T rs80358053
NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) rs80187739
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_007294.3(BRCA1):c.5080G>T (p.Glu1694Ter) rs80356896
NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5098del (p.Thr1700fs) rs483353099
NM_007294.3(BRCA1):c.5109T>G (p.Tyr1703Ter) rs80356974
NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.3(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.3(BRCA1):c.5126del (p.Gly1709fs) rs80357874
NM_007294.3(BRCA1):c.512dup (p.Gln172fs) rs587781487
NM_007294.3(BRCA1):c.5136G>A (p.Trp1712Ter) rs80357418
NM_007294.3(BRCA1):c.5137del (p.Trp1712_Val1713insTer) rs80357997
NM_007294.3(BRCA1):c.514del (p.Gln172fs) rs80357872
NM_007294.3(BRCA1):c.5152+1G>C rs80358094
NM_007294.3(BRCA1):c.5153-1G>A rs80358137
NM_007294.3(BRCA1):c.5153-2delA rs273901746
NM_007294.3(BRCA1):c.5154G>A (p.Trp1718Ter) rs80357239
NM_007294.3(BRCA1):c.516del (p.Gln172fs) rs879254223
NM_007294.3(BRCA1):c.5173G>T (p.Glu1725Ter) rs80357291
NM_007294.3(BRCA1):c.5173_5176GAAA[1] (p.Arg1726fs) rs80357867
NM_007294.3(BRCA1):c.5176del (p.Arg1726fs) rs876658478
NM_007294.3(BRCA1):c.5179A>T (p.Lys1727Ter) rs80357347
NM_007294.3(BRCA1):c.5182del (p.Met1728fs) rs34570933
NM_007294.3(BRCA1):c.5193+1G>C rs80358004
NM_007294.3(BRCA1):c.5193+1G>T rs80358004
NM_007294.3(BRCA1):c.5193+1del rs397509236
NM_007294.3(BRCA1):c.5194-1G>T rs80358173
NM_007294.3(BRCA1):c.5211_5212delAG rs1555576959
NM_007294.3(BRCA1):c.5215_5216delGA rs1064794467
NM_007294.3(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs) rs483353071
NM_007294.3(BRCA1):c.5246C>G (p.Pro1749Arg) rs80357462
NM_007294.3(BRCA1):c.5249del (p.Lys1750fs) rs879253993
NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123
NM_007294.3(BRCA1):c.5266C>T (p.Gln1756Ter) rs397509247
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5276del (p.Lys1759fs) rs80357732
NM_007294.3(BRCA1):c.5277+1delG rs273901754
NM_007294.3(BRCA1):c.5278-1G>C rs80358099
NM_007294.3(BRCA1):c.5278-1G>T rs80358099
NM_007294.3(BRCA1):c.5302del (p.Cys1768fs) rs886040289
NM_007294.3(BRCA1):c.5307T>A (p.Tyr1769Ter) rs397509258
NM_007294.3(BRCA1):c.5319dup (p.Asn1774fs) rs80357823
NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463
NM_007294.3(BRCA1):c.5332+1G>A rs80358041
NM_007294.3(BRCA1):c.5332+1G>C rs80358041
NM_007294.3(BRCA1):c.5332+2T>G rs80358182
NM_007294.3(BRCA1):c.5333-1G>A rs80358126
NM_007294.3(BRCA1):c.5335C>T (p.Gln1779Ter) rs397509267
NM_007294.3(BRCA1):c.5335del (p.Gln1779fs) rs80357590
NM_007294.3(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.3(BRCA1):c.5353C>T (p.Gln1785Ter) rs80356969
NM_007294.3(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp) rs786203663
NM_007294.3(BRCA1):c.5363G>T (p.Gly1788Val) rs80357069
NM_007294.3(BRCA1):c.5387C>A (p.Ser1796Ter) rs80357055
NM_007294.3(BRCA1):c.5406+4A>G rs397509279
NM_007294.3(BRCA1):c.5407-1G>C rs80358029
NM_007294.3(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962
NM_007294.3(BRCA1):c.5467+1G>A rs80358145
NM_007294.3(BRCA1):c.547+1G>T rs80358030
NM_007294.3(BRCA1):c.547+2T>A rs80358047
NM_007294.3(BRCA1):c.5470_5477delATTGGGCA (p.Ile1824Aspfs) rs80357973
NM_007294.3(BRCA1):c.5474_5481del (p.Gly1825fs) rs730881441
NM_007294.3(BRCA1):c.5492del (p.Pro1831fs) rs80357582
NM_007294.3(BRCA1):c.5496_5506delinsA (p.Val1833fs) rs273902775
NM_007294.3(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.3(BRCA1):c.5532_5533delCT rs1064793059
NM_007294.3(BRCA1):c.5558dup (p.Tyr1853Ter) rs80357629
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007294.3(BRCA1):c.66_67AG[3] (p.Cys24fs) rs80357914
NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) rs80357783
NM_007294.3(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.3(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.3(BRCA1):c.70_80delTGTCCCATCTG (p.Cys24Serfs) rs80357696
NM_007294.3(BRCA1):c.737del (p.Asp245_Leu246insTer) rs397509312
NM_007294.3(BRCA1):c.744del (p.Thr249fs) rs1060502360
NM_007294.3(BRCA1):c.783T>G (p.Tyr261Ter) rs80357321
NM_007294.3(BRCA1):c.784del (p.Gln262fs) rs886040318
NM_007294.3(BRCA1):c.791_794del (p.Ser264fs) rs80357707
NM_007294.3(BRCA1):c.794_795del (p.Ser265fs) rs80357955
NM_007294.3(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.3(BRCA1):c.81-1G>A rs80358018
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.844_850dup (p.Gln284fs) rs80357989
NM_007294.3(BRCA1):c.850C>T (p.Gln284Ter) rs397509330
NM_007294.3(BRCA1):c.851_852del (p.Gln284fs) rs80357719
NM_007294.3(BRCA1):c.869T>G (p.Leu290Ter) rs730881468
NM_007294.3(BRCA1):c.891_896delinsTC (p.Met297fs) rs1064793967
NM_007294.3(BRCA1):c.895_896del (p.Val299fs) rs80357670
NM_007294.3(BRCA1):c.922_924delinsT (p.Lys307_Ser308insTer) rs397509335
NM_007294.3(BRCA1):c.923del (p.Ser308fs) rs80357953
NM_007294.3(BRCA1):c.928C>T (p.Gln310Ter) rs397509338
NM_007294.3(BRCA1):c.929del (p.Gln310fs) rs80357844
NM_007294.3(BRCA1):c.930del (p.Gln310fs) rs80357689
NM_007294.3(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
NM_007294.3(BRCA1):c.964del (p.Ala322fs) rs273903794
NM_007294.3(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772
NM_007297.4(BRCA1):c.-43del rs730881457
NM_007297.4(BRCA1):c.-8+8290_-8+8291del rs397508857
NM_007298.3(BRCA1):c.787+1296del rs1555590505
NM_007298.3(BRCA1):c.787+1398del rs1064795840
NM_007298.3(BRCA1):c.787+1407delinsAA rs886040010
NM_007298.3(BRCA1):c.787+1409del rs397508948
NM_007298.3(BRCA1):c.787+1680del rs1064795446
NM_007298.3(BRCA1):c.787+1724del rs1555589501
NM_007298.3(BRCA1):c.787+222_787+223del rs1555592671
NM_007298.3(BRCA1):c.787+353dup rs876659327
NM_007298.3(BRCA1):c.787+355_787+356del rs879255313
NM_007298.3(BRCA1):c.787+401del rs397508845
NM_007298.3(BRCA1):c.787+407dup rs1555592264
NM_007298.3(BRCA1):c.787+437del rs879255320
NM_007298.3(BRCA1):c.787+465del rs876660623
NM_007298.3(BRCA1):c.787+490del rs1064795775
NM_007298.3(BRCA1):c.787+505_787+508del rs1555591984
NM_007298.3(BRCA1):c.787+553_787+554del rs730881458
NM_007298.3(BRCA1):c.787+61_787+92del rs886039501
NM_007298.3(BRCA1):c.787+62dup rs1555592986
NM_007298.3(BRCA1):c.787+835_787+839del rs879255314
NM_007298.3(BRCA1):c.787+970_787+973delinsGA rs1555591287
NM_007298.3(BRCA1):c.787+973dup rs1555591286
NM_007298.3(BRCA1):c.788-1063_788-1060del rs397509067
NM_007298.3(BRCA1):c.788-1361_788-1358del rs1064794177
NM_007298.3(BRCA1):c.788-1367del rs879255316
NM_007298.3(BRCA1):c.788-1393_788-1390del rs1555588385
NM_007298.3(BRCA1):c.788-1408dup rs1555588399
NM_007298.3(BRCA1):c.788-1554del rs730881461
NM_007298.3(BRCA1):c.788-1566dup rs878853292
NM_007298.3(BRCA1):c.788-1587_788-1586del rs878854940
NM_007298.3(BRCA1):c.788-1669del rs397509014
NM_007298.3(BRCA1):c.788-1716del rs1064795600
NM_007298.3(BRCA1):c.788-1739del rs1064795769
NM_007298.3(BRCA1):c.788-1792del rs1064794864
NM_007298.3(BRCA1):c.788-1808_788-1807dup rs80357549
NM_007298.3(BRCA1):c.788-1833dup rs876660425
NM_007298.3(BRCA1):c.788-973del rs1064794016
NM_007299.4(BRCA1):c.*47dup rs397509294
NM_007299.4(BRCA1):c.1018C>T (p.Arg340Ter) rs41293455
NM_007299.4(BRCA1):c.1675-1G>A rs730881495
NM_007299.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007299.4(BRCA1):c.1965+1G>A rs80358150
NM_007299.4(BRCA1):c.2021-1426del rs1064794662
NM_007299.4(BRCA1):c.2021-1456del rs879254116
NM_007299.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007299.4(BRCA1):c.213-11T>G rs80358061
NM_007299.4(BRCA1):c.213-12A>G rs80358163
NM_007299.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007299.4(BRCA1):c.787+1248A>T rs80357082
NM_007299.4(BRCA1):c.787+825C>T rs80356893
NM_007299.4(BRCA1):c.788-1786C>T rs397509002
NM_007299.4(BRCA1):c.788-751G>T rs28897686
NM_007300.4(BRCA1):c.135-2A>G rs80358065
NM_007300.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898
NM_007300.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007300.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007300.4(BRCA1):c.34C>T (p.Gln12Ter) rs80357134
NM_007300.4(BRCA1):c.5566C>T (p.Arg1856Ter) rs41293465

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