ClinVar Miner

Variants from Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge with conflicting interpretations

Location: United Kingdom  Primary collection method: clinical testing
Minimum review status of the submission from Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge: Collection method of the submission from Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
281 2817 0 166 0 0 86 221

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge likely pathogenic uncertain significance
pathogenic 166 86

Submitter to submitter summary #

Total submitters: 49
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Counsyl 0 239 0 80 0 0 1 81
Breast Cancer Information Core (BIC) (BRCA1) 0 611 0 0 0 0 47 47
Sharing Clinical Reports Project (SCRP) 0 677 0 23 0 0 9 32
Breast Cancer Information Core (BIC) (BRCA2) 0 565 0 0 0 0 22 22
Baylor Genetics 0 319 0 15 0 0 2 17
BRCAlab, Lund University 0 333 0 11 0 0 2 13
Department of Medical Genetics, Oslo University Hospital 0 130 0 10 0 0 0 10
Mendelics 0 29 0 8 0 0 1 9
All of Us Research Program, National Institutes of Health 0 175 0 5 0 0 3 8
Molecular Pathology, Peter Maccallum Cancer Centre 0 114 0 2 0 0 4 6
deCODE genetics, Amgen 0 5 0 6 0 0 0 6
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 74 0 4 0 0 1 5
Myriad Genetics, Inc. 0 29 0 4 0 0 1 5
Institute of Human Genetics, University of Leipzig Medical Center 0 94 0 3 0 0 0 3
MGZ Medical Genetics Center 0 46 0 3 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 15 0 1 0 0 2 3
Department of Medical Genetics, University Hospital of North Norway 0 0 0 2 0 0 0 2
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 1 0 0 1 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 49 0 2 0 0 0 2
Genesis Genomics 0 69 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 77 0 2 0 0 0 2
Institute of Human Genetics, Medical University Innsbruck 0 36 0 2 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 56 0 2 0 0 0 2
3billion 0 8 0 1 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 0 1 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 0 2 0 1 0 0 0 1
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 100 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 31 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 7 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 2790 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 30 0 1 0 0 0 1
Genologica Medica 0 53 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 36 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 6 0 0 0 0 1 1
Hereditary Cancer Clinic, Medical College of Georgia 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 24 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 7 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 11 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 18 0 1 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 17 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 31 0 1 0 0 0 1
OMIM 0 40 0 0 0 0 1 1
Pathway Genomics 0 20 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 1 0 0 0 1
Variantyx, Inc. 0 48 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 221
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00003
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser) rs373400041 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter) rs80358631 0.00001
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter) rs80358648 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.517-2A>G rs81002858 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter) rs80359013 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014 0.00001
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022 0.00001
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter) rs397508009 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9501+1G>A rs397508058 0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064 0.00001
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile) rs80357043 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007294.4(BRCA1):c.5467+1G>A rs80358145 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs) rs80359261
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter) rs80358434
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1599_1600del (p.Glu534fs) rs80359293
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter) rs80358456
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.2380dup (p.Met794fs) rs730881602
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs) rs786204752
NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter) rs80358538
NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs) rs397507300
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs) rs80359372
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3779dup (p.Leu1260fs) rs397507686
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs) rs80359421
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs) rs397507322
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs) rs397507323
NM_000059.4(BRCA2):c.425+1G>A rs587782590
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs) rs80359436
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs) rs397507331
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs) rs80359458
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.475+3A>G rs81002795
NM_000059.4(BRCA2):c.475+3A>T rs81002795
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.4(BRCA2):c.5110_5113del (p.Glu1703_Arg1704insTer) rs879254123
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs) rs80359502
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter) rs886038122
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs) rs80359519
NM_000059.4(BRCA2):c.5590_5591del (p.Asp1864fs) rs886040598
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter) rs886040610
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6039del (p.Val2014fs) rs876660637
NM_000059.4(BRCA2):c.631+1G>A rs81002897
NM_000059.4(BRCA2):c.631+2T>A rs81002899
NM_000059.4(BRCA2):c.631+3A>G rs397507840
NM_000059.4(BRCA2):c.631+4A>G rs397507841
NM_000059.4(BRCA2):c.6449_6450insTA (p.Lys2150fs) rs276174872
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.6879del (p.Phe2293fs) rs886040932
NM_000059.4(BRCA2):c.6901G>T (p.Glu2301Ter) rs80358915
NM_000059.4(BRCA2):c.6938-1G>A rs886040936
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs) rs80359629
NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer) rs879255306
NM_000059.4(BRCA2):c.7007+4A>G rs876661201
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7008-2A>T rs81002823
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter) rs886040685
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter) rs397507912
NM_000059.4(BRCA2):c.767_768del (p.Thr256fs) rs80359670
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7805+3A>C rs81002810
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7806-9T>G rs397507939
NM_000059.4(BRCA2):c.793+2T>G rs886040942
NM_000059.4(BRCA2):c.7976+5G>A rs786201180
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.7977-2A>T rs276174899
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs) rs276174904
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8632+1G>A rs397507997
NM_000059.4(BRCA2):c.8633-1G>A rs398122711
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8754+5G>A rs81002813
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter) rs80359170
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9256+1G>A rs81002883
NM_000059.4(BRCA2):c.9257-1G>C rs81002889
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.134+2T>G rs80358131
NM_007294.4(BRCA1):c.134+2del rs273897657
NM_007294.4(BRCA1):c.134+3A>C rs80358064
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs) rs876659139
NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter) rs80356984
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) rs28897672
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.4(BRCA1):c.182_183del (p.Cys61fs) rs397508912
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.4(BRCA1):c.1978del (p.Val660fs) rs886039988
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter) rs863224510
NM_007294.4(BRCA1):c.213-15A>G rs886040903
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs) rs273898681
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs) rs886040027
NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs) rs273899686
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr) rs80357111
NM_007294.4(BRCA1):c.3001G>T (p.Glu1001Ter) rs886038007
NM_007294.4(BRCA1):c.301+1G>A rs587782173
NM_007294.4(BRCA1):c.302-3C>G rs80358051
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) rs80357635
NM_007294.4(BRCA1):c.3285del (p.Lys1095fs) rs397509051
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs) rs80357785
NM_007294.4(BRCA1):c.3629dup (p.Ser1211fs) rs886040154
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs) rs483353092
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4357+6T>C rs80358143
NM_007294.4(BRCA1):c.442-7T>A rs886040909
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter) rs200432771
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+4A>T rs80358087
NM_007294.4(BRCA1):c.4986+5G>A rs397509211
NM_007294.4(BRCA1):c.4986+5G>C rs397509211
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.4987-1G>A rs730881495
NM_007294.4(BRCA1):c.4987-5T>C rs397509214
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs) rs879255283
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5074+1G>T rs80358053
NM_007294.4(BRCA1):c.5074+2T>C rs80358089
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg) rs80357222
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg) rs80357094
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.4(BRCA1):c.5152+2dup rs397509231
NM_007294.4(BRCA1):c.5152+5G>A rs80358165
NM_007294.4(BRCA1):c.5153-1G>C rs80358137
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs) rs886040289
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5359T>A (p.Cys1787Ser) rs80357065
NM_007294.4(BRCA1):c.5406+5G>A rs80358073
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr) rs80357212
NM_007294.4(BRCA1):c.5468-2A>G rs398122699
NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs) rs397509291
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter) rs80356873
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs) rs886040305
NM_007294.4(BRCA1):c.61del (p.Ile21fs) rs273902778
NM_007294.4(BRCA1):c.626del (p.Pro209fs) rs886040920
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.668dup (p.Ala224fs) rs80357537
NM_007294.4(BRCA1):c.671-1G>A rs80358020
NM_007294.4(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.80+5G>A rs80358045
Single allele

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