ClinVar Miner

List of variants in gene BRCA2 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 267
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.7617+190G>A rs206096 0.99815
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_000059.4(BRCA2):c.9648+244T>C rs206344 0.97962
NM_000059.4(BRCA2):c.793+98G>A rs206073 0.97695
NM_000059.4(BRCA2):c.-40+164G>A rs206119 0.72006
NM_000059.4(BRCA2):c.316+329A>G rs9534174 0.54610
NM_000059.4(BRCA2):c.9257-235G>A rs7327867 0.53512
NM_000059.4(BRCA2):c.9256+279G>A rs7328654 0.53374
NM_000059.4(BRCA2):c.9502-299G>C rs1012129 0.51793
NM_000059.4(BRCA2):c.9257-219A>G rs7330025 0.51759
NM_000059.4(BRCA2):c.631+183T>A rs3752451 0.32939
NM_000059.4(BRCA2):c.6937+847T>G rs9567576 0.28751
NM_000059.4(BRCA2):c.6841+191C>A rs11571662 0.28097
NM_000059.4(BRCA2):c.67+1134T>C rs11571579 0.27577
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000059.4(BRCA2):c.8632+300A>T rs10492395 0.22797
NM_000059.4(BRCA2):c.-40+222C>T rs9562605 0.21644
NM_000059.4(BRCA2):c.8754+187C>T rs3764792 0.21545
NM_000059.4(BRCA2):c.6937+177G>A rs4942440 0.20987
NM_000059.4(BRCA2):c.6937+151A>G rs4942439 0.20974
NM_000059.4(BRCA2):c.6937+736A>T rs4942443 0.20819
NM_000059.4(BRCA2):c.-26G>A rs1799943 0.20795
NM_000059.4(BRCA2):c.8754+183A>C rs3764791 0.19956
NM_000059.4(BRCA2):c.1910-74T>C rs2320236 0.19842
NM_000059.4(BRCA2):c.*532A>G rs11571836 0.18537
NM_000059.4(BRCA2):c.8754+526C>T rs9567623 0.18494
NM_000059.4(BRCA2):c.67+1042A>G rs206120 0.16923
NM_000059.4(BRCA2):c.9501+178A>G rs206343 0.15114
NM_000059.4(BRCA2):c.8755-272A>G rs4942485 0.09303
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000059.4(BRCA2):c.9257-83G>A rs9595456 0.04317
NM_000059.4(BRCA2):c.425+67A>C rs11571610 0.03705
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000059.4(BRCA2):c.1910-51G>T rs11571651 0.03694
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=) rs1801439 0.03688
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_000059.4(BRCA2):c.8331+333A>G rs11571721 0.01708
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_000059.4(BRCA2):c.7806-40A>G rs9590939 0.00858
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_000059.4(BRCA2):c.516+21A>T rs11571622 0.00765
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_000059.4(BRCA2):c.426-232C>T rs187438860 0.00645
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00355
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
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.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000059.4(BRCA2):c.6937+594T>G rs191253965 0.00096
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000059.4(BRCA2):c.-15A>C rs138705202 0.00066
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=) rs140556653 0.00059
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=) rs112566179 0.00056
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=) rs11571832 0.00047
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_000059.4(BRCA2):c.6842-20T>A rs81002811 0.00040
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.2208A>G (p.Ala736=) rs144984153 0.00026
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=) rs587780866 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=) rs148880015 0.00021
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000059.4(BRCA2):c.7805+13A>G rs149769332 0.00019
NM_000059.4(BRCA2):c.8487+8G>A rs81002838 0.00019
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000059.4(BRCA2):c.67+17T>C rs767648965 0.00017
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=) rs145625991 0.00016
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_000059.4(BRCA2):c.6960G>A (p.Leu2320=) rs373134168 0.00013
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000059.4(BRCA2):c.7278T>A (p.Ile2426=) rs372377916 0.00012
NM_000059.4(BRCA2):c.1272A>G (p.Ser424=) rs587780531 0.00011
NM_000059.4(BRCA2):c.3054G>A (p.Lys1018=) rs368404583 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387 0.00010
NM_000059.4(BRCA2):c.8633-16C>G rs81002818 0.00010
NM_000059.4(BRCA2):c.*14C>T rs373436334 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=) rs730881590 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=) rs45484897 0.00009
NM_000059.4(BRCA2):c.516+18T>C rs81002834 0.00009
NM_000059.4(BRCA2):c.2109C>T (p.Thr703=) rs762499878 0.00008
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000059.4(BRCA2):c.8953+16C>T rs81002892 0.00007
NM_000059.4(BRCA2):c.9949C>T (p.Leu3317=) rs777488349 0.00007
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=) rs147381487 0.00006
NM_000059.4(BRCA2):c.2490C>T (p.Asn830=) rs56331088 0.00006
NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=) rs587780870 0.00006
NM_000059.4(BRCA2):c.1749G>A (p.Leu583=) rs780324598 0.00005
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785 0.00005
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000059.4(BRCA2):c.7007+18T>A rs377471435 0.00005
NM_000059.4(BRCA2):c.750G>A (p.Val250=) rs143214959 0.00005
NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=) rs368576266 0.00005
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=) rs80359811 0.00005
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.316+13A>G rs773097109 0.00004
NM_000059.4(BRCA2):c.3840T>C (p.Asp1280=) rs786201327 0.00004
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=) rs376257217 0.00004
NM_000059.4(BRCA2):c.631+18G>A rs759965817 0.00004
NM_000059.4(BRCA2):c.67+19T>C rs587780865 0.00004
NM_000059.4(BRCA2):c.6841+11A>G rs730881592 0.00004
NM_000059.4(BRCA2):c.316+12A>G rs186419778 0.00003
NM_000059.4(BRCA2):c.3462C>T (p.Thr1154=) rs4986856 0.00003
NM_000059.4(BRCA2):c.3711T>C (p.Ala1237=) rs745588537 0.00003
NM_000059.4(BRCA2):c.4269T>C (p.Thr1423=) rs786201377 0.00003
NM_000059.4(BRCA2):c.6078A>G (p.Thr2026=) rs375649375 0.00003
NM_000059.4(BRCA2):c.627C>T (p.Leu209=) rs28897704 0.00003
NM_000059.4(BRCA2):c.632-16A>C rs81002905 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000059.4(BRCA2):c.7287G>A (p.Glu2429=) rs786202210 0.00003
NM_000059.4(BRCA2):c.7596C>T (p.Pro2532=) rs748631472 0.00003
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00003
NM_000059.4(BRCA2):c.8178T>C (p.Tyr2726=) rs761595544 0.00003
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=) rs371278843 0.00003
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=) rs556762256 0.00003
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092 0.00003
NM_000059.4(BRCA2):c.183A>G (p.Leu61=) rs776638534 0.00002
NM_000059.4(BRCA2):c.2094A>G (p.Leu698=) rs28897714 0.00002
NM_000059.4(BRCA2):c.2391G>A (p.Lys797=) rs587776462 0.00002
NM_000059.4(BRCA2):c.2484T>C (p.Tyr828=) rs45619134 0.00002
NM_000059.4(BRCA2):c.4062G>A (p.Thr1354=) rs768735660 0.00002
NM_000059.4(BRCA2):c.534A>G (p.Lys178=) rs28897703 0.00002
NM_000059.4(BRCA2):c.5688A>G (p.Ala1896=) rs768907899 0.00002
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536 0.00002
NM_000059.4(BRCA2):c.7317A>G (p.Gly2439=) rs587780660 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.8007A>G (p.Arg2669=) rs143999963 0.00002
NM_000059.4(BRCA2):c.8331+16C>G rs730881595 0.00002
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=) rs587782428 0.00002
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=) rs587780873 0.00002
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=) rs80359198 0.00002
NM_000059.4(BRCA2):c.10023C>T (p.Asp3341=) rs113507014 0.00001
NM_000059.4(BRCA2):c.1059A>G (p.Ser353=) rs730881585 0.00001
NM_000059.4(BRCA2):c.1584C>T (p.Asn528=) rs730881587 0.00001
NM_000059.4(BRCA2):c.2004G>A (p.Arg668=) rs755049218 0.00001
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=) rs554040246 0.00001
NM_000059.4(BRCA2):c.2601T>G (p.Thr867=) rs730881589 0.00001
NM_000059.4(BRCA2):c.2739C>T (p.Asp913=) rs276174829 0.00001
NM_000059.4(BRCA2):c.2751A>G (p.Val917=) rs765644162 0.00001
NM_000059.4(BRCA2):c.2817C>T (p.Thr939=) rs367921107 0.00001
NM_000059.4(BRCA2):c.2823G>A (p.Val941=) rs876659897 0.00001
NM_000059.4(BRCA2):c.317-12G>A rs81002841 0.00001
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=) rs587780650 0.00001
NM_000059.4(BRCA2):c.3693T>C (p.Thr1231=) rs751232859 0.00001
NM_000059.4(BRCA2):c.3874C>T (p.Leu1292=) rs587780867 0.00001
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=) rs276174840 0.00001
NM_000059.4(BRCA2):c.4179G>A (p.Ala1393=) rs770531115 0.00001
NM_000059.4(BRCA2):c.501A>C (p.Thr167=) rs750805758 0.00001
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00001
NM_000059.4(BRCA2):c.5529A>C (p.Ala1843=) rs372951842 0.00001
NM_000059.4(BRCA2):c.5745G>A (p.Thr1915=) rs1799953 0.00001
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=) rs587780658 0.00001
NM_000059.4(BRCA2):c.6675A>G (p.Thr2225=) rs28897741 0.00001
NM_000059.4(BRCA2):c.68-17A>G rs1060504621 0.00001
NM_000059.4(BRCA2):c.6842-19A>G rs81002865 0.00001
NM_000059.4(BRCA2):c.6975T>C (p.Val2325=) rs781466318 0.00001
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=) rs759383358 0.00001
NM_000059.4(BRCA2):c.7602G>A (p.Ala2534=) rs81002826 0.00001
NM_000059.4(BRCA2):c.7683G>A (p.Gln2561=) rs786201304 0.00001
NM_000059.4(BRCA2):c.7805+11C>A rs1060504610 0.00001
NM_000059.4(BRCA2):c.7805+8A>G rs81002847 0.00001
NM_000059.4(BRCA2):c.7806-6del rs764374133 0.00001
NM_000059.4(BRCA2):c.8061T>C (p.Val2687=) rs776992904 0.00001
NM_000059.4(BRCA2):c.8086T>C (p.Leu2696=) rs767912817 0.00001
NM_000059.4(BRCA2):c.8118T>C (p.Asn2706=) rs758549180 0.00001
NM_000059.4(BRCA2):c.8298A>G (p.Thr2766=) rs730881594 0.00001
NM_000059.4(BRCA2):c.8331+14C>T rs1287378096 0.00001
NM_000059.4(BRCA2):c.8332-6G>T rs587780872 0.00001
NM_000059.4(BRCA2):c.8352G>T (p.Arg2784=) rs747664806 0.00001
NM_000059.4(BRCA2):c.8488-19G>A rs398122607 0.00001
NM_000059.4(BRCA2):c.8632+14T>C rs730881596 0.00001
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=) rs80359804 0.00001
NM_000059.4(BRCA2):c.909T>G (p.Ser303=) rs757430441 0.00001
NM_000059.4(BRCA2):c.9257-18C>A rs81002807 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000059.4(BRCA2):c.9735A>G (p.Ser3245=) rs773112850 0.00001
NM_000059.4(BRCA2):c.9837A>G (p.Leu3279=) rs730881598 0.00001
NM_000059.3:c.1-59_1-57delGAA
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.122C>T (p.Pro41Leu) rs786201716
NM_000059.4(BRCA2):c.1359A>T (p.Pro453=) rs730881586
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.2013T>C (p.Ser671=) rs1555282399
NM_000059.4(BRCA2):c.2616A>G (p.Lys872=) rs202047206
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.3213T>C (p.His1071=) rs863224304
NM_000059.4(BRCA2):c.425+147G>T rs4942423
NM_000059.4(BRCA2):c.425+246G>C rs11571613
NM_000059.4(BRCA2):c.4563A>C (p.Leu1521=) rs206075
NM_000059.4(BRCA2):c.516+17G>T rs765435155
NM_000059.4(BRCA2):c.5547T>G (p.Gly1849=) rs587780656
NM_000059.4(BRCA2):c.5631C>T (p.Asn1877=) rs374326934
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=) rs80358784
NM_000059.4(BRCA2):c.5700A>G (p.Ser1900=) rs730881591
NM_000059.4(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.68-7del rs276174878
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.6841+80_6841+83del rs11571661
NM_000059.4(BRCA2):c.6842-14A>T rs81002821
NM_000059.4(BRCA2):c.6937+13T>G rs587780868
NM_000059.4(BRCA2):c.6937+592A>G rs587780869
NM_000059.4(BRCA2):c.6938-120T>C rs206080
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=) rs276174888
NM_000059.4(BRCA2):c.7137A>G (p.Gly2379=) rs730881593
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.4(BRCA2):c.741C>T (p.Ile247=) rs276174892
NM_000059.4(BRCA2):c.7506C>T (p.Arg2502=) rs140693106
NM_000059.4(BRCA2):c.837C>T (p.Cys279=) rs587781421
NM_000059.4(BRCA2):c.8487+47C>T rs11571744
NM_000059.4(BRCA2):c.8488-5T>C rs533806629
NM_000059.4(BRCA2):c.8633-135dup rs200156944
NM_000059.4(BRCA2):c.8829G>A (p.Gln2943=) rs786202623
NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8954-5_8954-2del rs587782878
NM_000059.4(BRCA2):c.9256+13A>G rs730881597
NM_000059.4(BRCA2):c.9257-10del rs276174919
NM_000059.4(BRCA2):c.9257-8C>T rs11571819
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=) rs755890067

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