ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic for pancreatic neoplasm

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs) rs80357914 0.00003
NM_007294.4(BRCA1):c.135-1G>T rs80358158 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.4485-1G>A rs80358189 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 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_007294.4(BRCA1):c.1018del (p.Lys339_Val340insTer) rs80357774
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter) rs886040898
NM_007294.4(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.4(BRCA1):c.1673_1674del (p.Lys558fs) rs80357600
NM_007294.4(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.4(BRCA1):c.1768_1770delinsC (p.Ser590fs) rs876659196
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.1938_1947del (p.Ser646fs) rs397508920
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys) rs80356913
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter) rs80357574
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter) rs41286296
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter) rs398122662
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter) rs80357003
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter) rs886038001
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter) rs878853292
NM_007294.4(BRCA1):c.2952del (p.Ile986fs) rs80357627
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter) rs273899698
NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer) rs1064793054
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4459A>T (p.Lys1487Ter)
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.4(BRCA1):c.4485-2A>C rs80358054
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter) rs786202631
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4618G>T (p.Glu1540Ter) rs80357277
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs) rs80357542
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4945_4947delinsTTTT (p.Arg1649fs) rs397509207
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs) rs879255295
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5074+1G>A rs80358053
NM_007294.4(BRCA1):c.5135G>A (p.Trp1712Ter) rs876658672
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5333-1G>A rs80358126
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs) rs879254116
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.5470_5477del rs80357973
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.744del (p.Thr249fs) rs1060502360
NM_007294.4(BRCA1):c.75del (p.Ile26fs) rs80357633
NM_007294.4(BRCA1):c.779dup (p.Tyr261fs) rs886040317
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.869del (p.Leu290fs) rs1555592956
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter) rs879255498
NM_007294.4(BRCA1):c.933del (p.Gly312fs) rs1135401839
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772

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