ClinVar Miner

List of variants in gene BRCA2 reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000059.4(BRCA2):c.198A>G (p.Gln66=) rs28897700 0.00020
NM_000059.4(BRCA2):c.5020A>G (p.Ser1674Gly) rs80358725 0.00020
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=) rs587780870 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=) rs374620036 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys) rs80358842 0.00004
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00003
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn) rs80359056 0.00003
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=) rs556762256 0.00003
NM_000059.4(BRCA2):c.5688A>G (p.Ala1896=) rs768907899 0.00002
NM_000059.4(BRCA2):c.6054T>C (p.Ser2018=) rs540799830 0.00002
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536 0.00002
NM_000059.4(BRCA2):c.7413A>G (p.Thr2471=) rs138067005 0.00002
NM_000059.4(BRCA2):c.794-11T>C rs81002822 0.00002
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe) rs80359054 0.00002
NM_000059.4(BRCA2):c.8331+16C>G rs730881595 0.00002
NM_000059.4(BRCA2):c.-9T>C rs276174802 0.00001
NM_000059.4(BRCA2):c.10085T>C (p.Phe3362Ser) rs756978580 0.00001
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys) rs80358422 0.00001
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His) rs80358423 0.00001
NM_000059.4(BRCA2):c.1574C>T (p.Thr525Ile) rs397507271 0.00001
NM_000059.4(BRCA2):c.2091A>G (p.Lys697=) rs876659230 0.00001
NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn) rs398122756 0.00001
NM_000059.4(BRCA2):c.3880T>C (p.Leu1294=) rs786201236 0.00001
NM_000059.4(BRCA2):c.3942G>A (p.Lys1314=) rs1002791506 0.00001
NM_000059.4(BRCA2):c.4494T>A (p.Gly1498=) rs373160367 0.00001
NM_000059.4(BRCA2):c.4901T>C (p.Phe1634Ser) rs80358715 0.00001
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00001
NM_000059.4(BRCA2):c.6661A>T (p.Asn2221Tyr) rs1555284785 0.00001
NM_000059.4(BRCA2):c.7805+25G>T rs776792554 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000059.4(BRCA2):c.8103T>G (p.Ser2701=) rs80359801 0.00001
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=) rs587780662 0.00001
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser) rs80359122 0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127 0.00001
NM_000059.4(BRCA2):c.893C>T (p.Thr298Ile) rs753067824 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000059.4(BRCA2):c.1355T>C (p.Leu452Pro) rs753512842
NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr) rs80358437
NM_000059.4(BRCA2):c.1675G>A (p.Asp559Asn) rs1555282012
NM_000059.4(BRCA2):c.1816C>T (p.Pro606Ser) rs765924757
NM_000059.4(BRCA2):c.2125C>G (p.Leu709Val) rs80358489
NM_000059.4(BRCA2):c.2219C>T (p.Pro740Leu) rs2137484362
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly) rs80358495
NM_000059.4(BRCA2):c.2399G>A (p.Gly800Asp) rs276174821
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.4(BRCA2):c.2496G>A (p.Glu832=) rs786201479
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.3845C>T (p.Thr1282Ile) rs1555283423
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr) rs80358646
NM_000059.4(BRCA2):c.467A>C (p.Asp156Ala) rs68071147
NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr) rs730881536
NM_000059.4(BRCA2):c.516+17G>T rs765435155
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala) rs370252983
NM_000059.4(BRCA2):c.5763T>G (p.Phe1921Leu) rs730881540
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.6369A>C (p.Glu2123Asp) rs1064793571
NM_000059.4(BRCA2):c.6448A>C (p.Lys2150Gln) rs1403648108
NM_000059.4(BRCA2):c.6464T>G (p.Leu2155Arg) rs2137527830
NM_000059.4(BRCA2):c.6757C>G (p.Leu2253Val) rs1555284846
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.6918T>C (p.Ala2306=) rs876659441
NM_000059.4(BRCA2):c.7692T>C (p.Thr2564=) rs1131692137
NM_000059.4(BRCA2):c.7907G>A (p.Cys2636Tyr) rs2137577318
NM_000059.4(BRCA2):c.9649-65_9649-62del rs773636329

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