ClinVar Miner

List of variants reported as benign by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 309
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_080704.4(TRPV1):c.-34+7395T>C rs161380 0.83591
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_000038.6(APC):c.1635G>A (p.Ala545=) rs351771 0.59150
NM_000018.4(ACADVL):c.1605+6T>C rs17671352 0.56622
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_007294.4(BRCA1):c.-20+101C>G rs799905 0.51032
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_020975.6(RET):c.867+48A>G rs2435352 0.37996
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_005591.4(MRE11):c.1225+19T>C rs641936 0.36577
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_000199.5(SGSH):c.664-36T>C rs35087113 0.31148
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_007294.4(BRCA1):c.*1287C>T rs12516 0.30331
NM_007294.4(BRCA1):c.5152+66G>A rs3092994 0.30314
NM_000179.3(MSH6):c.457+52T>A rs3136282 0.29585
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_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_004628.5(XPC):c.*96C>G rs2229090 0.22357
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304 0.18381
NM_001201543.2(FAM161A):c.1584-11G>A rs17513666 0.17214
NM_002878.4(RAD51D):c.234C>T (p.Ser78=) rs9901455 0.15951
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12350
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_002878.4(RAD51D):c.494G>A (p.Arg165Gln) rs4796033 0.11973
NM_001384140.1(PCDH15):c.157+59097T>C rs75443986 0.09222
NM_003060.4(SLC22A5):c.-77G>A rs13180295 0.07424
NM_003060.4(SLC22A5):c.-78C>T rs13180043 0.07424
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000051.4(ATM):c.4777-20A>G rs3218678 0.06221
NM_000152.5(GAA):c.2040+69A>G rs2304834 0.06120
NM_000535.7(PMS2):c.164-108G>C rs12538294 0.06053
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_000152.5(GAA):c.1888+21G>A rs2304837 0.05276
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=) rs1804670 0.05209
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000535.7(PMS2):c.2006+6G>A rs111905775 0.04390
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
NM_001127511.3(APC):c.166-29015A>T rs75581138 0.04169
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr) rs113425437 0.03898
NM_002485.5(NBN):c.703-18G>A rs769418 0.03898
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422 0.03830
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_014844.5(TECPR2):c.2050C>G (p.Leu684Val) rs45467297 0.03285
NM_000329.3(RPE65):c.1338+20A>C rs12564647 0.03055
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) rs116139984 0.02971
NM_001369.3(DNAH5):c.6444+8A>G rs1348690 0.02931
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305 0.02887
NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg) rs35090077 0.02877
NM_001692.4(ATP6V1B1):c.*12G>A rs77794859 0.02854
NM_001369.3(DNAH5):c.1395C>T (p.Ser465=) rs34580014 0.02846
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly) rs11999454 0.02757
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_005732.4(RAD50):c.551+85A>G rs75639632 0.02708
NM_005732.4(RAD50):c.2025C>T (p.Asp675=) rs34147298 0.02660
NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe) rs71647807 0.02596
NM_005732.4(RAD50):c.214-44G>A rs74769721 0.02590
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_001369.3(DNAH5):c.8449-12T>C rs111313933 0.02531
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=) rs35233147 0.02485
NM_001369.3(DNAH5):c.58-13T>C rs115758625 0.02407
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp) rs16849700 0.02374
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_002354.3(EPCAM):c.859-7C>T rs72882786 0.02290
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_012144.4(DNAI1):c.378A>G (p.Glu126=) rs3818577 0.02063
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_138694.4(PKHD1):c.5236+14A>G rs12210725 0.01912
NM_005732.4(RAD50):c.1052-38C>T rs104895045 0.01852
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_014249.4(NR2E3):c.1095C>T (p.Pro365=) rs35004053 0.01800
NM_002529.4(NTRK1):c.710C>T (p.Thr237Met) rs55909005 0.01791
NM_002354.3(EPCAM):c.426-20A>G rs6744170 0.01762
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_000051.4(ATM):c.186-17A>G rs4987907 0.01587
NM_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
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_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_002435.3(MPI):c.345+16C>T rs143242949 0.01224
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895 0.01193
NM_005591.4(MRE11):c.1994+10G>A rs1805366 0.01130
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_002691.4(POLD1):c.2862G>C (p.Thr954=) rs3219440 0.01109
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_002691.4(POLD1):c.849G>T (p.Gln283His) rs113282414 0.01085
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_020975.6(RET):c.868-18G>A rs57098408 0.01028
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_005591.4(MRE11):c.1032T>G (p.Leu344=) rs11020793 0.00960
NM_001127511.3(APC):c.78C>A (p.Ser26Arg) rs113782655 0.00928
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser) rs5744760 0.00805
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_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_002878.4(RAD51D):c.-238A>T rs188262287 0.00757
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_007294.4(BRCA1):c.*781C>T rs8176319 0.00732
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_000075.4(CDK4):c.696G>A (p.Leu232=) rs2227953 0.00692
NM_000075.4(CDK4):c.447A>G (p.Thr149=) rs2069501 0.00690
NM_006231.4(POLE):c.1470C>T (p.Asp490=) rs5744777 0.00679
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_005732.4(RAD50):c.3037-3T>C rs115737081 0.00627
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_005591.4(MRE11):c.2071-53G>T rs13447742 0.00597
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306 0.00596
NM_032043.3(BRIP1):c.206-21T>C rs2048717 0.00589
NM_000249.4(MLH1):c.1038+51C>T rs55986674 0.00582
NM_032043.3(BRIP1):c.1141-94G>T rs114901675 0.00573
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) rs1805362 0.00548
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_000038.6(APC):c.*248A>G rs186777258 0.00487
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212 0.00455
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640 0.00422
NM_002878.4(RAD51D):c.873C>T (p.Arg291=) rs140848654 0.00399
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
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_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=) rs35800931 0.00325
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=) rs201208890 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_007194.4(CHEK2):c.593-14C>T rs145754558 0.00235
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_000077.5(CDKN2A):c.458-491C>T rs181044510 0.00229
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257 0.00177
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_000314.8(PTEN):c.-9C>G rs11202592 0.00139
NM_005732.4(RAD50):c.3165-4A>T rs104895050 0.00133
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_001048174.2(MUTYH):c.-60C>T rs185172591 0.00123
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_000077.5(CDKN2A):c.-2G>A rs191394143 0.00097
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807 0.00080
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_005732.4(RAD50):c.885+11G>A rs117081789 0.00071
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) rs117656396 0.00053
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000030.3(AGXT):c.165+40A>C rs57017537 0.00038
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_001283009.2(RTEL1):c.1596-9C>T rs200803729 0.00014
NM_001370259.2(MEN1):c.913-42G>C rs529037188 0.00013
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847 0.00013
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val) rs56337919 0.00007
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_007294.4(BRCA1):c.301+7G>A rs80358113 0.00006
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229 0.00005
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657 0.00004
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_006231.4(POLE):c.3275+16A>G rs5744858 0.00004
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His) rs80357022 0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00004
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_007294.4(BRCA1):c.4185+10G>C rs80358104 0.00003
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466 0.00002
NM_000059.4(BRCA2):c.3304A>T (p.Asn1102Tyr) rs28897719 0.00002
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly) rs28897684 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=) rs554040246 0.00001
NM_000059.4(BRCA2):c.4046T>C (p.Ile1349Thr) rs80358654 0.00001
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711 0.00001
NM_007294.4(BRCA1):c.133A>C (p.Lys45Gln) rs769650474 0.00001
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn) rs41293449 0.00001
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr) rs80357160 0.00001
NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu) rs80357218 0.00001
NM_007294.4(BRCA1):c.4985T>C (p.Phe1662Ser) rs28897695 0.00001
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000051.4(ATM):c.8010+30dup rs3218702
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.4(BRCA2):c.7415A>C (p.Lys2472Thr) rs80358963
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000274.4(OAT):c.199+11_199+16dup rs201396618
NM_000337.5(SGCD):c.-626_-616del rs149976574
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.216-9A>T rs759575504
NM_000546.6(TP53):c.673-36G>C rs17880604
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_002691.4(POLD1):c.1776-83del rs751745933
NM_005591.4(MRE11):c.1098+17T>C rs1805365
NM_005591.4(MRE11):c.315-14dup rs35062043
NM_005591.4(MRE11):c.315-4del rs35062043
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_007294.4(BRCA1):c.1418A>G (p.Asn473Ser) rs80357057
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4636G>T (p.Asp1546Tyr) rs28897691
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.5572A>C (p.Ile1858Leu) rs765656957
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_020975.6(RET):c.2393-14C>T rs144269978
NM_023036.6(DNAI2):c.1644C>A (p.Ala548=) rs9908476
NM_058216.3(RAD51C):c.459T>G (p.Gly153=) rs769486350

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