ClinVar Miner

List of variants studied for Familial cancer of breast by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 301
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HGVS dbSNP gnomAD frequency
NM_000465.4(BARD1):c.1518T>C (p.His506=) rs2070093 0.74904
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser) rs2229571 0.53291
NM_000465.4(BARD1):c.1315-19G>A rs6704780 0.37148
NM_000465.4(BARD1):c.1568+14C>T rs5031011 0.34966
NM_000465.4(BARD1):c.70C>T (p.Pro24Ser) rs1048108 0.32854
NM_000465.4(BARD1):c.1053G>C (p.Thr351=) rs2070096 0.19573
NM_005732.4(RAD50):c.551+19G>A rs17166050 0.17902
NM_032043.3(BRIP1):c.508-31C>G rs4988344 0.15259
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000051.4(ATM):c.4777-20A>G rs3218678 0.06221
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=) rs1804670 0.05209
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_032043.3(BRIP1):c.94-18T>G rs2138005 0.03086
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02975
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_005732.4(RAD50):c.2025C>T (p.Asp675=) rs34147298 0.02660
NM_005732.4(RAD50):c.214-44G>A rs74769721 0.02590
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_005732.4(RAD50):c.1052-38C>T rs104895045 0.01852
NM_000051.4(ATM):c.186-17A>G rs4987907 0.01587
NM_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000051.4(ATM):c.3993+133A>G rs142220799 0.00855
NM_000051.4(ATM):c.2922-21T>G rs149096247 0.00835
NM_000465.4(BARD1):c.609A>C (p.Gly203=) rs28997574 0.00787
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000051.4(ATM):c.3747-34A>G rs3092840 0.00656
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_005732.4(RAD50):c.3037-3T>C rs115737081 0.00627
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_032043.3(BRIP1):c.206-21T>C rs2048717 0.00589
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_003620.4(PPM1D):c.456C>T (p.Ala152=) rs149400522 0.00475
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212 0.00455
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640 0.00422
NM_000051.4(ATM):c.5005+18G>A rs76290788 0.00414
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=) rs35800931 0.00325
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_003620.4(PPM1D):c.1017+51A>G rs144142345 0.00301
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00218
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588 0.00156
NM_005732.4(RAD50):c.3165-4A>T rs104895050 0.00133
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_005732.4(RAD50):c.885+11G>A rs117081789 0.00071
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000051.4(ATM):c.6808-22C>A rs3218700 0.00036
NM_000051.4(ATM):c.103C>A (p.Arg35=) rs55861249 0.00032
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000051.4(ATM):c.7044G>A (p.Thr2348=) rs140104789 0.00030
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_000051.4(ATM):c.3402+17T>C rs3092825 0.00020
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) rs145428112 0.00015
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr) rs372838622 0.00014
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg) rs730881382 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) rs748636216 0.00006
NM_007194.4(CHEK2):c.847-17T>C rs199780411 0.00006
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543 0.00006
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr) rs754242563 0.00006
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.4146A>G (p.Pro1382=) rs147738621 0.00004
NM_000051.4(ATM):c.6333T>C (p.His2111=) rs55756349 0.00004
NM_000465.4(BARD1):c.1473G>A (p.Gly491=) rs151080730 0.00004
NM_000465.4(BARD1):c.1678-18C>G rs376045331 0.00004
NM_000465.4(BARD1):c.365-7C>T rs745929983 0.00004
NM_005732.4(RAD50):c.1932G>A (p.Arg644=) rs375978877 0.00004
NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile) rs748377319 0.00004
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln) rs587782202 0.00003
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn) rs276174886 0.00003
NM_000465.4(BARD1):c.1052C>T (p.Thr351Met) rs767208122 0.00003
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250 0.00003
NM_004360.5(CDH1):c.1684A>T (p.Thr562Ser) rs587782061 0.00003
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=) rs188258913 0.00003
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340 0.00003
NM_000051.4(ATM):c.3402+16A>G rs763382531 0.00002
NM_000051.4(ATM):c.4050G>A (p.Thr1350=) rs770697446 0.00002
NM_000051.4(ATM):c.4306C>T (p.His1436Tyr) rs544891616 0.00002
NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe) rs752652869 0.00002
NM_000465.4(BARD1):c.531A>G (p.Gln177=) rs774050888 0.00002
NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys) rs778019174 0.00002
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly) rs587782813 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_024675.4(PALB2):c.995T>A (p.Leu332His) rs377149139 0.00002
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_032043.3(BRIP1):c.713C>T (p.Thr238Ile) rs745955726 0.00002
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val) rs376893571 0.00002
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met) rs550031006 0.00002
NM_000051.4(ATM):c.1303T>C (p.Leu435=) rs748469311 0.00001
NM_000051.4(ATM):c.2075G>A (p.Arg692His) rs751515818 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.3108C>T (p.Phe1036=) rs867514913 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.4437-20T>G rs558432723 0.00001
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys) rs587782037 0.00001
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr) rs776309355 0.00001
NM_000051.4(ATM):c.5471T>G (p.Leu1824Arg) rs1565479465 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.591A>T (p.Gly197=) rs587780630 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.7317A>G (p.Val2439=) rs878853542 0.00001
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe) rs753262623 0.00001
NM_000051.4(ATM):c.8730C>G (p.Leu2910=) rs551041839 0.00001
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met) rs730881329 0.00001
NM_000051.4(ATM):c.8850+10T>C rs762487236 0.00001
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr) rs778670498 0.00001
NM_000059.4(BRCA2):c.4244A>G (p.Glu1415Gly) rs1060502399 0.00001
NM_000465.4(BARD1):c.1544C>G (p.Ser515Cys) rs746878509 0.00001
NM_000465.4(BARD1):c.1695T>C (p.Arg565=) rs569636814 0.00001
NM_000465.4(BARD1):c.2008A>G (p.Lys670Glu) rs775039040 0.00001
NM_000465.4(BARD1):c.49G>A (p.Gly17Arg) rs746495820 0.00001
NM_000465.4(BARD1):c.592G>T (p.Ala198Ser) rs748834249 0.00001
NM_000465.4(BARD1):c.976A>G (p.Asn326Asp) rs587780038 0.00001
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile) rs556110297 0.00001
NM_005732.4(RAD50):c.3539G>A (p.Arg1180Gln) rs369788398 0.00001
NM_005732.4(RAD50):c.3660G>A (p.Thr1220=) rs758026288 0.00001
NM_005732.4(RAD50):c.586C>T (p.Arg196Cys) rs769853458 0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169 0.00001
NM_007194.4(CHEK2):c.451G>T (p.Gly151Cys) rs587781377 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_024675.4(PALB2):c.3236C>T (p.Ala1079Val) rs769342316 0.00001
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln) rs587778133 0.00001
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser) rs760127237 0.00001
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln) rs781609846 0.00001
NM_032043.3(BRIP1):c.2930C>T (p.Ala977Val) rs770352467 0.00001
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734 0.00001
NM_032043.3(BRIP1):c.3276G>A (p.Pro1092=) rs375911315 0.00001
NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly) rs776010326 0.00001
NM_032043.3(BRIP1):c.712A>C (p.Thr238Pro) rs1490001091 0.00001
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val) rs587781425 0.00001
NM_000051.3:g.(?_108175383)_(108188278_?)del
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1340G>T (p.Arg447Leu) rs760676955
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu) rs780097986
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1388C>A (p.Ala463Glu)
NM_000051.4(ATM):c.1561A>G (p.Arg521Gly) rs2080118357
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.4(ATM):c.2194A>G (p.Met732Val) rs1415360560
NM_000051.4(ATM):c.2250+4G>A rs1565395217
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu) rs730881348
NM_000051.4(ATM):c.2436G>A (p.Met812Ile) rs876658688
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2922-17T>G
NM_000051.4(ATM):c.2922-18T>G
NM_000051.4(ATM):c.3022T>C (p.Ser1008Pro) rs2135553747
NM_000051.4(ATM):c.3078-12A>T rs1555085749
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.4(ATM):c.3772C>A (p.His1258Asn) rs587782741
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.4220T>C (p.Ile1407Thr)
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr) rs587782126
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala) rs2082684549
NM_000051.4(ATM):c.4545C>T (p.Asn1515=) rs764039368
NM_000051.4(ATM):c.4814C>T (p.Ala1605Val) rs786203520
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.497-15T>A
NM_000051.4(ATM):c.5064A>G (p.Ile1688Met)
NM_000051.4(ATM):c.5088T>C (p.Tyr1696=) rs786203476
NM_000051.4(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.4(ATM):c.5178-3C>T
NM_000051.4(ATM):c.5762G>C (p.Arg1921Thr)
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del) rs866749094
NM_000051.4(ATM):c.5972A>G (p.Glu1991Gly) rs866824608
NM_000051.4(ATM):c.6095+6T>C rs1057522992
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6178_6182del (p.Arg2060fs)
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser) rs573290117
NM_000051.4(ATM):c.6572+12G>A rs3218677
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer) rs1591129041
NM_000051.4(ATM):c.7082T>C (p.Leu2361Pro) rs1169558907
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.8585-3_8585-1delinsT
NM_000051.4(ATM):c.986G>A (p.Arg329Lys) rs776938735
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1233A>G (p.Ile411Met) rs1555281784
NM_000059.4(BRCA2):c.475+4T>C rs746963311
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8488-3C>A rs1566249158
NM_000059.4(BRCA2):c.8954-1_8955delinsAA rs276174916
NM_000251.3(MSH2):c.387_388del (p.Gln130fs) rs63750924
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)
NM_000465.4(BARD1):c.100T>C (p.Trp34Arg) rs955904953
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1259T>C (p.Met420Thr) rs786203217
NM_000465.4(BARD1):c.1329del (p.Val444fs) rs767587416
NM_000465.4(BARD1):c.1513G>A (p.Gly505Arg) rs864622240
NM_000465.4(BARD1):c.1793C>T (p.Thr598Ile) rs376256852
NM_000465.4(BARD1):c.2333G>C (p.Ter778Ser) rs776958611
NM_000465.4(BARD1):c.305A>T (p.Asp102Val)
NM_000465.4(BARD1):c.313A>G (p.Ile105Val)
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer) rs779427628
NM_000465.4(BARD1):c.59C>T (p.Pro20Leu) rs753686197
NM_000465.4(BARD1):c.607G>A (p.Gly203Arg) rs730881415
NM_000465.4(BARD1):c.7G>A (p.Asp3Asn) rs1060501282
NM_003738.5(PTCH2):c.2315dup (p.Pro773fs)
NM_004168.3:g.(?_218403)_(256583_?)del
NM_004360.5(CDH1):c.1766A>G (p.Asn589Ser) rs1367108095
NM_005732.4(RAD50):c.102G>A (p.Leu34=) rs876659395
NM_005732.4(RAD50):c.129+2T>C
NM_005732.4(RAD50):c.136A>G (p.Ile46Val)
NM_005732.4(RAD50):c.2221G>C (p.Asp741His)
NM_005732.4(RAD50):c.3195C>T (p.Asp1065=) rs786201980
NM_005732.4(RAD50):c.3488T>C (p.Ile1163Thr) rs759753449
NM_005732.4(RAD50):c.3890C>T (p.Ser1297Leu)
NM_005732.4(RAD50):c.398G>T (p.Cys133Phe) rs786201788
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter) rs1561635887
NM_005732.4(RAD50):c.587G>A (p.Arg196His) rs764784659
NM_005732.4(RAD50):c.670C>T (p.Arg224Cys) rs753136372
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn) rs786202147
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs) rs1060502684
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr) rs578218280
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn) rs767043399
NM_007194.4(CHEK2):c.159_160del (p.His54fs) rs2054324732
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.623_626del (p.Asp208fs)
NM_007194.4(CHEK2):c.704A>T (p.Lys235Met)
NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter) rs1060499812
NM_024675.4(PALB2):c.2748+1G>C rs753153576
NM_024675.4(PALB2):c.3347G>A (p.Gly1116Asp) rs1597066554
NM_032043.3(BRIP1):c.1550C>T (p.Pro517Leu) rs786202169
NM_032043.3(BRIP1):c.1578G>A (p.Met526Ile) rs2077668951
NM_032043.3(BRIP1):c.1623T>C (p.Asn541=) rs786203897
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter) rs1555591361
NM_032043.3(BRIP1):c.2234dup (p.Ile746fs)
NM_032043.3(BRIP1):c.2252_2255delAGAA (p.Lys752fs)
NM_032043.3(BRIP1):c.2307G>A (p.Leu769=) rs1555590464
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=) rs574552037
NM_032043.3(BRIP1):c.2459A>C (p.Gln820Pro)
NM_032043.3(BRIP1):c.2472C>T (p.Ala824=) rs767666616
NM_032043.3(BRIP1):c.2662C>G (p.His888Asp) rs757668121
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.5C>T (p.Ser2Phe) rs751194347
NM_032043.3(BRIP1):c.681del (p.Glu228fs)
NM_032043.3(BRIP1):c.839A>G (p.Asp280Gly) rs1555609193
NM_032043.3(BRIP1):c.890A>C (p.Lys297Thr) rs28997570

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