ClinVar Miner

List of variants reported as benign by National Health Laboratory Service, Universitas Academic Hospital and University of the Free State

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 414
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala) rs169547 0.97902
NM_016507.4(CDK12):c.2769-74G>A rs8070799 0.97047
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_000465.4(BARD1):c.158+46A>C rs35933323 0.73949
NM_000465.4(BARD1):c.-48T>C rs17489363 0.73905
NM_000465.4(BARD1):c.-30G>C rs1129804 0.73899
NM_000546.6(TP53):c.74+38C>G rs1642785 0.66254
NM_000051.4(ATM):c.3078-77C>T rs664677 0.65111
NM_000465.4(BARD1):c.-78G>A rs34732883 0.63732
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_000051.4(ATM):c.8850+60A>G rs664143 0.61921
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_001127255.2(NLRP7):c.2811-23A>G rs269933 0.54964
NM_001127255.2(NLRP7):c.2682T>C (p.Tyr894=) rs269951 0.54828
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser) rs2229571 0.53291
NM_000059.4(BRCA2):c.8755-66T>C rs4942486 0.51824
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_000051.4(ATM):c.2377-56A>G rs672655 0.48759
NM_001018115.3(FANCD2):c.1414-23T>C rs10222446 0.48329
NM_005591.4(MRE11):c.20+28G>A rs497763 0.42216
NM_001127255.2(NLRP7):c.-39-16C>T rs775886 0.38318
NM_000465.4(BARD1):c.1315-19G>A rs6704780 0.37148
NM_000465.4(BARD1):c.1568+51A>G rs5031009 0.37115
NM_005591.4(MRE11):c.1225+19T>C rs641936 0.36577
NM_000051.4(ATM):c.72+37_72+38del rs2066734 0.35257
NM_001018115.3(FANCD2):c.4281+172G>A rs7626117 0.35108
NM_000465.4(BARD1):c.1568+14C>T rs5031011 0.34966
NM_032043.3(BRIP1):c.2905+83T>A rs4988357 0.33913
NM_133510.4(RAD51B):c.84+28T>G rs17783124 0.32998
NM_002485.5(NBN):c.2071-30A>T rs3736639 0.32860
NM_002485.5(NBN):c.102G>A (p.Leu34=) rs1063045 0.32752
NM_002485.5(NBN):c.1915-7A>G rs2308962 0.32733
NM_024675.4(PALB2):c.2586+58C>T rs249954 0.31139
NM_007294.4(BRCA1):c.4358-2885G>A rs8176193 0.30892
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.4987-68A>G rs8176234 0.30809
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_007294.4(BRCA1):c.4987-92A>G rs8176233 0.30647
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_007294.4(BRCA1):c.5152+66G>A rs3092994 0.30314
NM_002485.5(NBN):c.1124+18C>T rs2234744 0.30095
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_005591.4(MRE11):c.403-6G>A rs535801 0.28996
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_032043.3(BRIP1):c.1340+109G>A rs2191248 0.25912
NM_001018115.3(FANCD2):c.3849+13A>G rs9811771 0.25616
NM_001018115.3(FANCD2):c.4281+197A>G rs7647987 0.24912
NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=) rs2272125 0.24889
NM_001018115.3(FANCD2):c.4185+33T>C rs2272124 0.24884
NM_001018115.3(FANCD2):c.784-19C>T rs9879080 0.23357
NM_001018115.3(FANCD2):c.2976+36T>C rs6805869 0.23353
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_001018115.3(FANCD2):c.990-38C>G rs9809061 0.22591
NM_000059.4(BRCA2):c.681+56C>T rs2126042 0.21010
NM_000059.4(BRCA2):c.-26G>A rs1799943 0.20795
NM_001018115.3(FANCD2):c.695+16G>C rs17032283 0.20237
NM_001018115.3(FANCD2):c.439-16A>G rs17032278 0.20185
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_000465.4(BARD1):c.1053G>C (p.Thr351=) rs2070096 0.19573
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_002717.4(PPP2R2A):c.1065-51A>C rs3824232 0.18592
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304 0.18381
NM_007294.4(BRCA1):c.442-34C>T rs799923 0.15730
NM_032043.3(BRIP1):c.508-31C>G rs4988344 0.15259
NM_024675.4(PALB2):c.3201+101A>G rs249935 0.13018
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_001018115.3(FANCD2):c.2021+31C>T rs3864015 0.12478
NM_133510.4(RAD51B):c.757-26T>C rs10129646 0.11143
NM_001018115.3(FANCD2):c.1413+38A>C rs7615646 0.10867
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000546.6(TP53):c.782+92T>G rs12951053 0.09904
NM_000546.6(TP53):c.782+72C>T rs12947788 0.09901
NM_003579.4(RAD54L):c.2190C>T (p.Ala730=) rs1048771 0.09534
NM_032043.3(BRIP1):c.93+72T>G rs4988342 0.07661
NM_000546.6(TP53):c.97-29C>A rs17883323 0.07310
NM_002717.4(PPP2R2A):c.1065-10A>G rs3808565 0.07309
NM_000465.4(BARD1):c.1811-69T>C rs74531001 0.07214
NM_000465.4(BARD1):c.2001+66A>C rs75237746 0.06546
NM_000051.4(ATM):c.901+25T>G rs1800735 0.06260
NM_001127255.2(NLRP7):c.2811-25G>C rs775870 0.06249
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000051.4(ATM):c.4777-20A>G rs3218678 0.06221
NM_000465.4(BARD1):c.159-70T>G rs34377639 0.06157
NM_002485.5(NBN):c.2234+88C>G rs13312970 0.05951
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_000465.4(BARD1):c.215+75A>G rs10498023 0.05730
NM_016507.4(CDK12):c.3483G>A (p.Thr1161=) rs12950784 0.05652
NM_016507.4(CDK12):c.714G>A (p.Ser238=) rs35896550 0.05637
NM_000465.4(BARD1):c.1568+42T>C rs5031010 0.05252
NM_024675.4(PALB2):c.-47G>A rs8053188 0.04991
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_007194.4(CHEK2):c.684-107T>G rs16986640 0.04453
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_002717.4(PPP2R2A):c.459+59A>C rs17309515 0.04320
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_002485.5(NBN):c.2071-61A>T rs3736640 0.03996
NM_002485.5(NBN):c.703-18G>A rs769418 0.03898
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
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.865A>C (p.Asn289His) rs766173 0.03693
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=) rs1801439 0.03688
NM_000059.4(BRCA2):c.7435+53C>T rs11147489 0.03657
NM_000465.4(BARD1):c.1811-77A>G rs76486825 0.03544
NM_000546.6(TP53):c.993+352C>T rs77697176 0.03428
NM_024675.4(PALB2):c.3201+95C>T rs76918977 0.03415
NM_032043.3(BRIP1):c.507+67T>C rs73991950 0.03383
NM_001018115.3(FANCD2):c.2269+37A>G rs34323624 0.03335
NM_001018115.3(FANCD2):c.1828-77C>T rs34157687 0.03326
NM_001018115.3(FANCD2):c.2716-68G>A rs7625685 0.03274
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_001018115.3(FANCD2):c.571-31G>A rs35749514 0.03113
NM_032043.3(BRIP1):c.94-18T>G rs2138005 0.03086
NM_133510.4(RAD51B):c.199-33G>T rs184815928 0.03086
NM_003579.4(RAD54L):c.1042+55G>C rs28363230 0.03032
NM_001018115.3(FANCD2):c.1509C>T (p.Asn503=) rs6785756 0.03005
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_133509.5(RAD51B):c.1094C>G (p.Pro365Arg) rs28908468 0.02778
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_000051.4(ATM):c.662+38T>C rs2235004 0.02706
NM_001018115.3(FANCD2):c.64+12G>C rs9833228 0.02661
NM_133510.4(RAD51B):c.199-21C>T rs35183950 0.02616
NM_001127255.2(NLRP7):c.2706C>T (p.Ala902=) rs61746780 0.02585
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_133510.4(RAD51B):c.515T>G (p.Leu172Trp) rs34094401 0.02502
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_000465.4(BARD1):c.-83C>T rs71579840 0.02454
NM_002485.5(NBN):c.897-64A>G rs13312891 0.02360
NM_000465.4(BARD1):c.1811-87C>G rs80039307 0.02351
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val) rs35495399 0.02285
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_000051.4(ATM):c.497-48T>G rs2235001 0.02158
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_016507.4(CDK12):c.2666+17A>C rs112561954 0.02105
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met) rs35173688 0.02009
NM_007294.4(BRCA1):c.5075-53C>T rs8176258 0.01914
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_024675.4(PALB2):c.1684+29A>G rs74320059 0.01884
NM_002485.5(NBN):c.1914+9C>T rs13312938 0.01874
NM_133510.4(RAD51B):c.453-26G>A rs35080917 0.01733
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_001018115.3(FANCD2):c.2976+47A>G rs34810856 0.01704
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000051.4(ATM):c.186-17A>G rs4987907 0.01587
NM_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_001018115.3(FANCD2):c.1134+39T>G rs774013442 0.01557
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_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_007294.4(BRCA1):c.*36C>G rs3092995 0.01385
NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg) rs115244417 0.01348
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_133510.4(RAD51B):c.91T>C (p.Leu31=) rs114131734 0.01232
NM_016507.4(CDK12):c.1302A>G (p.Ser434=) rs56158954 0.01231
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_002485.5(NBN):c.2070+33T>C rs4987078 0.01200
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_005591.4(MRE11):c.1994+10G>A rs1805366 0.01130
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_007294.4(BRCA1):c.5406+68T>C rs8176307 0.01019
NM_007294.4(BRCA1):c.212+23T>A rs8176128 0.01018
NM_003579.4(RAD54L):c.62A>G (p.Asp21Gly) rs28363192 0.01017
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_002485.5(NBN):c.1124+19C>T rs13312903 0.00965
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_016507.4(CDK12):c.3391A>G (p.Ile1131Val) rs61747430 0.00963
NM_005591.4(MRE11):c.1032T>G (p.Leu344=) rs11020793 0.00960
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_000546.6(TP53):c.1100+30A>T rs17880847 0.00929
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) rs3809683 0.00919
NM_133510.4(RAD51B):c.714G>A (p.Glu238=) rs17104744 0.00904
NM_133510.4(RAD51B):c.748T>G (p.Ser250Ala) rs33929366 0.00901
NM_000051.4(ATM):c.3077+61G>A rs3218679 0.00895
NM_024675.4(PALB2):c.2586+81C>T rs114710547 0.00885
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000059.4(BRCA2):c.7806-40A>G rs9590939 0.00858
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_000051.4(ATM):c.2922-21T>G rs149096247 0.00835
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_003579.4(RAD54L):c.1042+78G>A rs61457846 0.00819
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.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_000465.4(BARD1):c.609A>C (p.Gly203=) rs28997574 0.00787
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_000059.4(BRCA2):c.516+21A>T rs11571622 0.00765
NM_000465.4(BARD1):c.1569-56A>G rs71579853 0.00762
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_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_000051.4(ATM):c.4776+41C>T rs114726455 0.00726
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000051.4(ATM):c.3747-34A>G rs3092840 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000051.4(ATM):c.*44A>G rs55900855 0.00643
NM_005591.4(MRE11):c.659+30C>G rs11020795 0.00639
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.*29C>G rs3218711 0.00603
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) rs1805362 0.00548
NM_002717.4(PPP2R2A):c.82+26T>G rs111586207 0.00543
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212 0.00455
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000051.4(ATM):c.2250+22A>C rs3218692 0.00419
NM_000051.4(ATM):c.2250+34A>C rs3218705 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
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_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_000051.4(ATM):c.2466+87T>G rs145659155 0.00304
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_001018115.3(FANCD2):c.1546-58A>T rs140083233 0.00299
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.7805+6C>G rs81002819 0.00290
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
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_003579.4(RAD54L):c.1600C>T (p.Arg534Cys) rs28363240 0.00255
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_007194.4(CHEK2):c.593-14C>T rs145754558 0.00235
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_001018115.3(FANCD2):c.-6G>C rs3732974 0.00227
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp) rs113217267 0.00202
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_002717.4(PPP2R2A):c.82+11G>A rs116762879 0.00155
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_133510.4(RAD51B):c.315+8A>G rs181714884 0.00140
NM_000059.4(BRCA2):c.8332-66T>C rs81002808 0.00133
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299 0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_000059.4(BRCA2):c.7805+23G>A rs113653200 0.00103
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_007294.4(BRCA1):c.134+111C>T rs8176100 0.00102
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) rs56321129 0.00095
NM_133510.4(RAD51B):c.523A>C (p.Ser175Arg) rs140423456 0.00088
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_000051.4(ATM):c.7928-73G>A rs149047841 0.00056
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00054
NM_032043.3(BRIP1):c.1935+11G>A rs79121306 0.00051
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_000051.4(ATM):c.2250+75T>C rs2235009 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_000059.4(BRCA2):c.5879G>A (p.Cys1960Tyr) rs56157628 0.00045
NM_001018115.3(FANCD2):c.2022-27A>G rs4019783 0.00044
NM_007294.4(BRCA1):c.4096+36A>G rs45620639 0.00043
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000059.4(BRCA2):c.317-22C>T rs81002794 0.00024
NM_001018115.3(FANCD2):c.2877A>G (p.Gln959=) rs145953386 0.00023
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000059.4(BRCA2):c.516+102T>C rs56251699 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_000059.4(BRCA2):c.198A>G (p.Gln66=) rs28897700 0.00020
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408 0.00019
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000059.4(BRCA2):c.8633-26A>G rs56268579 0.00011
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 0.00010
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000546.6(TP53):c.474C>T (p.Arg158=) rs139200646 0.00009
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_007294.4(BRCA1):c.5277+42C>A rs537848419 0.00008
NM_007294.4(BRCA1):c.593+3G>A rs80358013 0.00007
NM_000465.4(BARD1):c.1973G>A (p.Arg658His) rs377227840 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met) rs80357345 0.00005
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00004
NM_007294.4(BRCA1):c.135-23C>T rs763633355 0.00004
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874 0.00004
NM_000059.4(BRCA2):c.67+58A>C rs538947930 0.00003
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=) rs371278843 0.00003
NM_000546.6(TP53):c.903A>G (p.Pro301=) rs72661120 0.00003
NM_001018115.3(FANCD2):c.1440T>C (p.His480=) rs375412395 0.00003
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000059.4(BRCA2):c.987G>A (p.Arg329=) rs561002197 0.00001
NM_002485.5(NBN):c.297T>C (p.Phe99=) rs1563580668 0.00001
NM_005591.4(MRE11):c.1780A>G (p.Arg594Gly) rs576878377 0.00001
NM_007194.4(CHEK2):c.683+42A>G rs753147387 0.00001
NM_007294.4(BRCA1):c.4097-79A>G rs2053453145 0.00001
NM_000051.4(ATM):c.2251-115dup rs4987959
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2639-27_2639-22del rs4987971
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3403-15delinsAA rs1555091094
NM_000051.4(ATM):c.4436+19C>T rs539302674
NM_000051.4(ATM):c.5006-68T>G rs3092906
NM_000051.4(ATM):c.6808-72ATT[4] rs3212322
NM_000051.4(ATM):c.8010+30dup rs3218702
NM_000051.4(ATM):c.8787-55C>T rs664982
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.426-26A>G rs770859940
NM_000059.4(BRCA2):c.516+21del rs2137450852
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.7242A>G (p.Ser2414=) rs1799955
NM_000059.4(BRCA2):c.7618-21G>T rs376957350
NM_000059.4(BRCA2):c.794-38A>G rs774154353
NM_000059.4(BRCA2):c.8487+47C>T rs11571744
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.215+68del rs71579844
NM_000546.6(TP53):c.673-36G>C rs17880604
NM_001017361.3(KHDC3L):c.602C>G (p.Ala201Gly) rs561930
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_001018115.3(FANCD2):c.1214A>G (p.Asn405Ser) rs73126218
NM_001018115.3(FANCD2):c.1278+115G>A rs9825871
NM_001018115.3(FANCD2):c.1689C>T (p.Leu563=) rs1281020807
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_002485.5(NBN):c.1397+46del rs13312924
NM_002485.5(NBN):c.896+24dup rs13312882
NM_002717.4(PPP2R2A):c.1263C>T (p.His421=) rs1019920773
NM_005591.4(MRE11):c.1098+17T>C rs1805365
NM_005591.4(MRE11):c.1868-85_1868-84del rs13447714
NM_007194.4(CHEK2):c.319+39dup rs3841692
NM_007194.4(CHEK2):c.684-100_684-78dup rs17881244
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2335A>T (p.Thr779Ser) rs1348270931
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.5152+85del rs8176259
NM_007294.4(BRCA1):c.548-58del rs8176144
NM_007294.4(BRCA1):c.663A>G (p.Ala221=) rs375952040
NM_032043.3(BRIP1):c.2257+34del rs2144693780
NM_032043.3(BRIP1):c.2257+42del rs2144693661
NM_032043.3(BRIP1):c.2492+80A>G rs9901948
NM_032043.3(BRIP1):c.2643G>A (p.Leu881=) rs2144116635
NM_133510.4(RAD51B):c.316-45A>T rs1474939

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