ClinVar Miner

List of variants reported as benign for DNA repair disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 627
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_022725.4(FANCF):c.*632G>A rs444923 0.97022
NM_022725.4(FANCF):c.*819C>T rs450946 0.96809
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_000123.3(ERCC5):c.-419A>G rs751402 0.75753
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_022725.4(FANCF):c.*207C>T rs4447177 0.70234
NM_000380.4(XPA):c.-4A>G rs1800975 0.70140
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_032043.3(BRIP1):c.*3514T>G rs10744996 0.68796
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_174889.4(NDUFAF2):c.-97A>G rs158922 0.66969
NM_024334.3(TMEM43):c.*115T>C rs1043943 0.65275
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001 0.64910
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) rs238406 0.64842
NM_004628.5(XPC):c.2251-6A>C rs2279017 0.64290
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_001018113.3(FANCB):c.-173G>C rs2188383 0.63320
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_032043.3(BRIP1):c.*483C>T rs7213430 0.61289
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.59353
NM_000123.4(ERCC5):c.*84G>A rs873601 0.59033
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.1826+15T>C rs1800337 0.51138
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_001113525.2(ZNF276):c.1574+23del rs17233826 0.48664
NM_002693.3(POLG):c.3643+257T>G rs1061316 0.48343
NM_001113378.2(FANCI):c.1698+15C>T rs9806604 0.46880
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000136.3(FANCC):c.*1288T>C rs4647554 0.45294
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_004628.5(XPC):c.-27G>C rs2607775 0.42677
NM_000123.4(ERCC5):c.2879+14C>T rs4150360 0.42594
NM_032043.3(BRIP1):c.-205G>A rs2048718 0.42481
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NM_032043.3(BRIP1):c.*2090G>C rs60657820 0.38290
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
NM_000123.3(ERCC5):c.-242T>C rs2296147 0.37387
NM_000082.4(ERCC8):c.*105T>C rs3117 0.36900
NM_000136.3(FANCC):c.*1871G>A rs4647558 0.36840
NM_005236.3(ERCC4):c.*484G>T rs3743538 0.36827
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_001018115.3(FANCD2):c.4281+172G>A rs7626117 0.35108
NM_032043.3(BRIP1):c.*3488A>T rs11079454 0.33474
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_002485.5(NBN):c.102G>A (p.Leu34=) rs1063045 0.32752
NM_002485.5(NBN):c.1915-7A>G rs2308962 0.32733
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_000124.4(ERCC6):c.*379C>G rs4253234 0.31692
NM_002485.5(NBN):c.*1209A>C rs1063054 0.31611
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_002485.5(NBN):c.*1754T>C rs9995 0.31588
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_002485.5(NBN):c.*541G>C rs2735383 0.31125
NM_001018115.3(FANCD2):c.4281+685C>T rs11716842 0.30572
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_002485.5(NBN):c.*273G>A rs1063053 0.30308
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_005236.3(ERCC4):c.*2513C>A rs11075223 0.29307
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_000059.4(BRCA2):c.*369A>G rs7334543 0.27664
NM_005236.3(ERCC4):c.*3032G>T rs4781562 0.27315
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_004628.5(XPC):c.2061G>A (p.Arg687=) rs2227998 0.26212
NM_001018115.3(FANCD2):c.3849+13A>G rs9811771 0.25616
NM_018319.4(TDP1):c.-230-14C>A rs28365055 0.25524
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=) rs1052555 0.25433
NM_018319.4(TDP1):c.291A>G (p.Gln97=) rs3825663 0.25304
NM_001018115.3(FANCD2):c.4281+197A>G rs7647987 0.24912
NM_001018115.3(FANCD2):c.4281+566T>G rs3826 0.24892
NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=) rs2272125 0.24889
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_005236.3(ERCC4):c.*971C>G rs2276466 0.24309
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_005236.3(ERCC4):c.*726G>C rs2276464 0.24180
NM_032043.3(BRIP1):c.-31+12G>A rs4988340 0.23980
NM_005236.3(ERCC4):c.*3195G>A rs4781563 0.23275
NM_005236.3(ERCC4):c.*2577C>A rs56012340 0.23225
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_004628.5(XPC):c.*96C>G rs2229090 0.22357
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_004628.5(XPC):c.1496C>T (p.Ala499Val) rs2228000 0.21224
NM_000059.4(BRCA2):c.-26G>A rs1799943 0.20795
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20566
NM_018319.4(TDP1):c.*77C>T rs9488 0.20063
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_006502.3(POLH):c.*1858A>G rs9472090 0.19853
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) rs4647100 0.19656
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_002485.5(NBN):c.*1977T>C rs14448 0.19329
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_000059.4(BRCA2):c.*532A>G rs11571836 0.18537
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304 0.18381
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_004628.5(XPC):c.*618A>G rs2470458 0.16965
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_015046.7(SETX):c.*562C>A rs11787894 0.16282
NM_015046.7(SETX):c.*626C>T rs11795382 0.16247
NM_000059.4(BRCA2):c.-52A>G rs206118 0.15771
NM_000059.4(BRCA2):c.*105A>C rs15869 0.15131
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_000380.4(XPA):c.*203C>G rs3176751 0.12539
NM_004629.1(FANCG):c.-453_-452insT rs16935545 0.12501
NM_006502.3(POLH):c.*290C>T rs6899628 0.12458
NM_006502.3(POLH):c.*2489C>T rs6922830 0.12414
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_006502.3(POLH):c.1939A>T (p.Met647Leu) rs6941583 0.11871
NM_206937.2(LIG4):c.*1035G>A rs10131 0.11700
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr) rs28365054 0.10566
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
NM_206937.2(LIG4):c.*677A>G rs3093772 0.09986
NM_000124.4(ERCC6):c.*1830T>C rs11101137 0.09932
NM_000124.4(ERCC6):c.*3823T>C rs73297748 0.09918
NM_000124.4(ERCC6):c.*53T>C rs4253231 0.09905
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
NM_032444.4(SLX4):c.-359C>G rs57910835 0.09336
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_000082.4(ERCC8):c.*439G>T rs4647155 0.09291
NM_000107.3(DDB2):c.-120G>A rs4647707 0.08985
NM_021922.3(FANCE):c.*216del rs45584740 0.08934
NM_001018115.3(FANCD2):c.4281+673G>A rs9862958 0.08846
NM_032444.4(SLX4):c.1366+11T>C rs76350200 0.08654
NM_032444.4(SLX4):c.*8A>G rs3751839 0.08334
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_032444.4(SLX4):c.-295A>G rs59311338 0.07951
NM_032444.4(SLX4):c.2854G>A (p.Ala952Thr) rs59939128 0.07918
NM_004629.1(FANCG):c.-490G>T rs10972303 0.07883
NM_005236.3(ERCC4):c.*2174A>G rs9925509 0.07847
NM_000124.4(ERCC6):c.*933G>A rs3750751 0.07801
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_005236.3(ERCC4):c.*3493T>C rs79560972 0.07396
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244 0.07388
NM_000123.4(ERCC5):c.-72C>T rs2296148 0.07351
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=) rs11857960 0.07285
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_002485.5(NBN):c.*1961T>C rs13312987 0.07113
NM_002485.5(NBN):c.*757A>G rs13312981 0.07109
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542 0.07023
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_000123.4(ERCC5):c.264+7G>A rs2020915 0.06728
NM_015046.7(SETX):c.*1365G>T rs7875801 0.06684
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327 0.06626
NM_018319.4(TDP1):c.-21C>T rs34348197 0.06559
NM_018062.4(FANCL):c.217-11T>C rs79588315 0.06493
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282 0.06490
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955 0.06391
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042 0.06386
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934 0.06384
NM_004629.2(FANCG):c.-392A>G rs10972302 0.06369
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_005236.3(ERCC4):c.*3801C>T rs113403633 0.06215
NM_000135.4(FANCA):c.894-8A>G rs11648881 0.06110
NM_032043.3(BRIP1):c.*2241T>C rs76889595 0.05966
NM_018319.4(TDP1):c.*1448G>A rs34004710 0.05962
NM_018319.4(TDP1):c.*1452C>T rs34923595 0.05957
NM_018319.4(TDP1):c.*1460C>G rs35944390 0.05950
NM_018319.4(TDP1):c.1077A>G (p.Pro359=) rs17126522 0.05945
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910 0.05919
NM_000135.4(FANCA):c.2779-7T>C rs17233253 0.05872
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_006502.3(POLH):c.*3847G>A rs145612937 0.05869
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_021922.3(FANCE):c.*151A>G rs16876572 0.05645
NM_024334.3(TMEM43):c.*719G>T rs3796308 0.05531
NM_006502.3(POLH):c.1434G>A (p.Thr478=) rs3734690 0.05476
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679 0.05446
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_018319.4(TDP1):c.-224A>G rs35439694 0.05316
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000082.4(ERCC8):c.*519C>A rs4647157 0.05096
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_024675.4(PALB2):c.-47G>A rs8053188 0.04991
NM_032444.4(SLX4):c.*113C>T rs76661336 0.04982
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850 0.04956
NM_032444.4(SLX4):c.*1004A>G rs75773027 0.04949
NM_032444.4(SLX4):c.*721T>C rs75146816 0.04948
NM_032444.4(SLX4):c.2855C>T (p.Ala952Val) rs78637028 0.04932
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530 0.04930
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461 0.04916
NM_006502.3(POLH):c.*537C>T rs55704248 0.04781
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813 0.04718
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu) rs62020347 0.04602
NM_018319.4(TDP1):c.-177C>T rs35132667 0.04596
NM_005236.3(ERCC4):c.*1421G>T rs76447723 0.04451
NM_000380.4(XPA):c.*278T>C rs3176753 0.04443
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_001113525.2(ZNF276):c.1475-191C>T rs16966023 0.04351
NM_015046.7(SETX):c.*717T>C rs17148857 0.04316
NM_000124.4(ERCC6):c.-78G>T rs4253005 0.04162
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_004628.5(XPC):c.1475G>A (p.Arg492His) rs2227999 0.03986
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_022725.4(FANCF):c.*1629C>T rs10500938 0.03856
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_032043.3(BRIP1):c.*1374T>C rs59115933 0.03738
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_006502.3(POLH):c.*1129A>T rs28877272 0.03612
NM_006502.3(POLH):c.*50A>G rs1064260 0.03592
NM_006502.3(POLH):c.*1364T>A rs9333565 0.03584
NM_006502.3(POLH):c.*2975C>A rs112207298 0.03584
NM_006502.3(POLH):c.*5713T>C rs75658777 0.03578
NM_006502.3(POLH):c.*952C>T rs1141338 0.03574
NM_006502.3(POLH):c.*1110A>T rs112725367 0.03563
NM_032043.3(BRIP1):c.*4000T>C rs8077553 0.03559
NM_000136.3(FANCC):c.*116A>C rs7048910 0.03439
NM_000122.2(ERCC3):c.*259G>A rs1803541 0.03432
NM_000123.4(ERCC5):c.1440C>T (p.His480=) rs4150316 0.03429
NM_001113525.2(ZNF276):c.1574+23T>C rs62704561 0.03426
NM_018319.4(TDP1):c.1107T>C (p.Asn369=) rs10151377 0.03424
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917 0.03405
NM_000400.4(ERCC2):c.718+6G>T rs3916812 0.03337
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917 0.03300
NM_001113378.2(FANCI):c.1294-8C>T rs16942931 0.03299
NM_001113525.2(ZNF276):c.*103C>G rs17233797 0.03296
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=) rs16942969 0.03295
NM_206937.2(LIG4):c.*1081C>T rs113388531 0.03279
NM_206937.2(LIG4):c.*826A>T rs116018061 0.03278
NM_206937.2(LIG4):c.*685T>C rs116798101 0.03277
NM_206937.2(LIG4):c.*983G>A rs75642465 0.03277
NM_206937.2(LIG4):c.807C>T (p.Tyr269=) rs2232638 0.03276
NM_206937.2(LIG4):c.*204A>G rs3093769 0.03275
NM_206937.2(LIG4):c.*131A>T rs3093768 0.03272
NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr) rs2232642 0.03272
NM_206937.2(LIG4):c.-7C>T rs4987182 0.03244
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_000107.3(DDB2):c.*77C>T rs1050244 0.03171
NM_018319.4(TDP1):c.*393T>C rs7150480 0.03142
NM_001018115.3(FANCD2):c.1509C>T (p.Asn503=) rs6785756 0.03005
NM_002485.5(NBN):c.*937T>C rs11987865 0.03004
NM_000135.4(FANCA):c.1360-7C>T rs17232616 0.03003
NM_002485.5(NBN):c.*790T>G rs11987887 0.03002
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_001113525.2(ZNF276):c.1815G>C (p.Glu605Asp) rs17227424 0.02929
NM_002485.5(NBN):c.*1692A>G rs13312986 0.02926
NM_002485.5(NBN):c.*2212G>A rs10464867 0.02921
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_000136.3(FANCC):c.*2552T>C rs9673 0.02750
NM_206937.2(LIG4):c.-101-172C>T rs1805387 0.02719
NM_001018115.3(FANCD2):c.64+12G>C rs9833228 0.02661
NM_005236.3(ERCC4):c.*11C>T rs9929524 0.02645
NM_000122.1(ERCC3):c.-69C>T rs9282675 0.02606
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg) rs4150313 0.02531
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_000123.4(ERCC5):c.429C>G (p.Leu143=) rs4140390 0.02517
NM_000123.4(ERCC5):c.*89G>A rs4150390 0.02491
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769 0.02485
NM_001018113.3(FANCB):c.*14T>C rs2375726 0.02466
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_000082.4(ERCC8):c.-23T>G rs4647038 0.02401
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_004628.5(XPC):c.300G>A (p.Arg100=) rs2228002 0.02396
NM_021922.3(FANCE):c.1071C>T (p.Leu357=) rs3823434 0.02388
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_006502.3(POLH):c.*1055A>T rs115129476 0.02324
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867 0.02290
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val) rs35495399 0.02285
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099 0.02283
NM_005236.3(ERCC4):c.*674G>C rs1651204 0.02273
NM_001113525.2(ZNF276):c.*68C>T rs17227417 0.02259
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230 0.02217
NM_004628.5(XPC):c.142C>T (p.Leu48Phe) rs2229089 0.02177
NM_206937.2(LIG4):c.*129A>G rs3093767 0.02174
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_015046.7(SETX):c.*561A>C rs73661150 0.02138
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_005236.3(ERCC4):c.*3125A>G rs115183774 0.02088
NM_006502.3(POLH):c.*1679C>T rs113292021 0.02043
NM_018319.4(TDP1):c.*539G>A rs35090050 0.02032
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_000380.4(XPA):c.*234C>A rs3176752 0.01979
NM_006502.3(POLH):c.*2659T>C rs9462906 0.01968
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006 0.01879
NM_004628.5(XPC):c.46C>G (p.Leu16Val) rs1870134 0.01876
NM_002485.5(NBN):c.1914+9C>T rs13312938 0.01874
NM_001113525.2(ZNF276):c.1574+26C>A rs17233812 0.01850
NM_032444.4(SLX4):c.*807G>A rs115690937 0.01845
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_032444.4(SLX4):c.*655G>A rs116003727 0.01840
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_000082.4(ERCC8):c.*458T>C rs4647156 0.01803
NM_000136.3(FANCC):c.*2085C>A rs4647559 0.01780
NM_006502.3(POLH):c.1783A>G (p.Met595Val) rs9333555 0.01768
NM_006502.3(POLH):c.*693C>T rs9333558 0.01766
NM_022725.4(FANCF):c.*319A>G rs12294705 0.01761
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_032444.4(SLX4):c.*984C>T rs57699393 0.01715
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile) rs76788798 0.01679
NM_006502.3(POLH):c.*5697G>A rs113410952 0.01678
NM_001113525.2(ZNF276):c.1475-216G>A rs17227452 0.01670
NM_018319.4(TDP1):c.-230-4G>T rs28365053 0.01666
NM_015046.7(SETX):c.*1052T>A rs12349210 0.01647
NM_015046.7(SETX):c.*1288T>C rs72765812 0.01645
NM_001113378.2(FANCI):c.868G>A (p.Val290Met) rs113772230 0.01634
NM_000123.4(ERCC5):c.-74G>A rs3218736 0.01632
NM_000082.4(ERCC8):c.*36C>T rs4647152 0.01630
NM_000107.3(DDB2):c.*151C>A rs4647760 0.01627
NM_001113525.2(ZNF276):c.1574+17A>C rs17233833 0.01627
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_206937.2(LIG4):c.*54G>A rs2232643 0.01584
NM_000122.2(ERCC3):c.1119G>A (p.Gln373=) rs2228544 0.01580
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525 0.01573
NM_015046.7(SETX):c.*849G>T rs74975459 0.01559
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_000136.3(FANCC):c.*359A>G rs4647551 0.01505
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_000059.4(BRCA2):c.*397C>A rs11571835 0.01470
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_032444.4(SLX4):c.-104A>G rs73505426 0.01460
NM_015046.7(SETX):c.*1224G>C rs10491906 0.01458
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_000122.2(ERCC3):c.1485G>A (p.Glu495=) rs4150456 0.01434
NM_005236.3(ERCC4):c.33C>T (p.Ala11=) rs3136042 0.01420
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=) rs2020958 0.01408
NM_177417.3(KLC3):c.*101C>G rs3916891 0.01399
NM_000124.4(ERCC6):c.*2137A>G rs114723899 0.01395
NM_018062.4(FANCL):c.1077T>C (p.Cys359=) rs11539575 0.01385
NM_006502.3(POLH):c.*2499G>A rs147353387 0.01369
NM_006502.3(POLH):c.1751T>C (p.Leu584Pro) rs9333554 0.01368
NM_006502.3(POLH):c.*429G>A rs9333556 0.01366
NM_032444.4(SLX4):c.3868C>A (p.His1290Asn) rs112596894 0.01345
NM_000122.2(ERCC3):c.1027+3A>G rs4150417 0.01342
NM_005236.3(ERCC4):c.*1880C>T rs112776898 0.01335
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_000082.4(ERCC8):c.363T>C (p.Asp121=) rs4647088 0.01289
NM_006502.3(POLH):c.*1179G>A rs9333561 0.01249
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_006502.3(POLH):c.*3318G>A rs142340697 0.01222
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=) rs34557339 0.01219
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895 0.01193
NM_002693.3(POLG):c.3644-99C>T rs3176241 0.01180
NM_000082.4(ERCC8):c.*237T>C rs4647153 0.01170
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207 0.01168
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu) rs45451294 0.01158
NM_032043.3(BRIP1):c.*172G>C rs111898257 0.01099
NM_015046.7(SETX):c.*548A>T rs139883935 0.01078
NM_021922.3(FANCE):c.-56C>T rs4713866 0.01055
NM_018319.4(TDP1):c.*799A>G rs35437984 0.01042
NM_001113525.2(ZNF276):c.*1316C>T rs9282680 0.01028
NM_002485.5(NBN):c.*419C>T rs13312979 0.01028
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962 0.00998
NM_032043.3(BRIP1):c.*1820C>T rs114037902 0.00997
NM_000123.4(ERCC5):c.-200G>C rs76752300 0.00995
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr) rs75182789 0.00995
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_032444.4(SLX4):c.999C>T (p.Ile333=) rs7198338 0.00974
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser) rs79448721 0.00968
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_001018115.3(FANCD2):c.2148C>G (p.Thr716=) rs55856815 0.00952
NM_002485.5(NBN):c.*1013G>A rs13312984 0.00945
NM_000123.4(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342 0.00934
NM_000123.4(ERCC5):c.960C>T (p.Asp320=) rs4150314 0.00931
NM_032444.4(SLX4):c.*555C>T rs146163310 0.00927
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln) rs79174372 0.00921
NM_022725.4(FANCF):c.*738T>G rs76674060 0.00915
NM_000400.4(ERCC2):c.477+9A>C rs1799785 0.00851
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800 0.00848
NM_001195248.2(APTX):c.318C>T (p.Asn106=) rs79254654 0.00842
NM_022725.4(FANCF):c.96C>T (p.Arg32=) rs151253274 0.00838
NM_006502.3(POLH):c.*3611T>A rs73428626 0.00834
NM_001018113.3(FANCB):c.-229T>G rs149617434 0.00830
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_022725.4(FANCF):c.*2123G>A rs45625034 0.00813
NM_000124.4(ERCC6):c.*3395A>C rs142122327 0.00812
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp) rs1056085 0.00810
NM_004628.5(XPC):c.2028C>T (p.Tyr676=) rs2228004 0.00805
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_000059.4(BRCA2):c.*295C>G rs11571834 0.00789
NM_002693.3(POLG):c.3644-9A>G rs115048121 0.00785
NM_206937.2(LIG4):c.513T>C (p.Leu171=) rs3093764 0.00779
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824 0.00776
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836 0.00774
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=) rs34405660 0.00772
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_018062.4(FANCL):c.*95A>G rs76348639 0.00754
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_000122.2(ERCC3):c.*29C>T rs4150523 0.00736
NM_006502.3(POLH):c.*371A>G rs59061501 0.00736
NM_004628.5(XPC):c.1841T>C (p.Phe614Ser) rs144766677 0.00716
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=) rs2020953 0.00706
NM_000123.4(ERCC5):c.2457G>A (p.Arg819=) rs73573973 0.00694
NM_000123.4(ERCC5):c.433G>A (p.Val145Ile) rs4987063 0.00693
NM_206937.2(LIG4):c.*104C>G rs2232644 0.00690
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045 0.00681
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821 0.00679
NM_000124.4(ERCC6):c.*1872C>T rs115281814 0.00673
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556 0.00649
NM_004628.5(XPC):c.860T>G (p.Phe287Cys) rs35629274 0.00642
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln) rs34452707 0.00640
NM_000082.4(ERCC8):c.504A>G (p.Val168=) rs35366433 0.00639
NM_018319.4(TDP1):c.1098A>G (p.Gln366=) rs34563565 0.00639
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359 0.00638
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_032043.3(BRIP1):c.*2538G>A rs150080122 0.00610
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408 0.00601
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys) rs61731910 0.00599
NM_022725.4(FANCF):c.557C>T (p.Ala186Val) rs113910234 0.00595
NM_006502.3(POLH):c.-117C>T rs56300149 0.00589
NM_032043.3(BRIP1):c.*280G>C rs189935192 0.00585
NM_001195248.2(APTX):c.*187G>C rs113638548 0.00570
NM_001195248.2(APTX):c.*806G>A rs113556331 0.00570
NM_032043.3(BRIP1):c.*616A>G rs116292412 0.00570
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_001195248.2(APTX):c.*606G>A rs111430445 0.00567
NM_001195248.2(APTX):c.*454G>C rs138490250 0.00563
NM_004628.4(XPC):c.-71C>T rs567196401 0.00560
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_000123.4(ERCC5):c.1974A>G (p.Gln658=) rs55686372 0.00552
NM_005236.3(ERCC4):c.*2539A>G rs115526695 0.00547
NM_001195248.2(APTX):c.*756G>A rs115295647 0.00544
NM_018319.4(TDP1):c.*1105A>G rs34815305 0.00542
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NM_206937.2(LIG4):c.-101-95G>A rs1805385 0.00533
NM_005236.3(ERCC4):c.*1472C>T rs112742002 0.00528
NM_001018113.3(FANCB):c.*66T>G rs143434225 0.00525
NM_006502.3(POLH):c.*1549C>T rs186059509 0.00525
NM_006502.3(POLH):c.-98A>C rs189835199 0.00524
NM_206937.2(LIG4):c.915T>C (p.Ser305=) rs2232639 0.00524
NM_006502.3(POLH):c.986C>T (p.Thr329Ile) rs35675573 0.00520
NM_000135.4(FANCA):c.1826+12C>T rs183513839 0.00518
NM_032043.3(BRIP1):c.-197C>A rs180948389 0.00518
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189 0.00509
NM_032444.4(SLX4):c.*1095G>A rs116498263 0.00499
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_004628.5(XPC):c.1734C>A (p.Val578=) rs3731131 0.00479
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097 0.00466
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_032444.4(SLX4):c.*1022A>G rs78346491 0.00466
NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys) rs28378332 0.00462
NM_000124.4(ERCC6):c.*1275C>G rs182177140 0.00456
NM_001195248.2(APTX):c.*141G>A rs148292963 0.00452
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
NM_000122.2(ERCC3):c.1335C>T (p.Thr445=) rs4150422 0.00440
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_018319.4(TDP1):c.*598G>A rs34083314 0.00430
NM_018319.4(TDP1):c.1317+11G>A rs36009827 0.00423
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala) rs35973343 0.00413
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_000136.3(FANCC):c.-79+5G>A rs4647350 0.00411
NM_000136.3(FANCC):c.*1968G>A rs114827984 0.00409
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00403
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_032444.4(SLX4):c.4068G>A (p.Pro1356=) rs115491049 0.00396
NM_032444.4(SLX4):c.336G>A (p.Pro112=) rs79126454 0.00393
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_032444.4(SLX4):c.4600G>A (p.Gly1534Ser) rs78770603 0.00380
NM_000400.4(ERCC2):c.2190+12G>A rs3916881 0.00366
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227 0.00363
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_000122.2(ERCC3):c.615G>A (p.Glu205=) rs13427563 0.00362
NM_022725.4(FANCF):c.*461G>T rs45458698 0.00359
NM_032043.3(BRIP1):c.*1263A>G rs73991940 0.00355
NM_004628.5(XPC):c.780-15C>T rs3731116 0.00344
NM_206937.2(LIG4):c.180C>T (p.Val60=) rs2232637 0.00342
NM_000123.4(ERCC5):c.641G>A (p.Arg214His) rs146833751 0.00341
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_004628.5(XPC):c.2782A>C (p.Lys928Gln) rs3731177 0.00285
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys) rs61757385 0.00285
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu) rs4150388 0.00250
NM_000123.4(ERCC5):c.2100C>A (p.Leu700=) rs2228959 0.00243
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_001018115.3(FANCD2):c.-6G>C rs3732974 0.00227
NM_022725.4(FANCF):c.*106T>C rs16909782 0.00215
NM_022725.4(FANCF):c.786A>G (p.Leu262=) rs11026706 0.00215
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr) rs138044459 0.00178
NM_000136.3(FANCC):c.-29A>C rs4647414 0.00155
NM_000122.2(ERCC3):c.*177A>G rs4150525 0.00151
NM_032444.4(SLX4):c.3109T>C (p.Leu1037=) rs58735123 0.00148
NM_004628.5(XPC):c.1780C>T (p.Arg594Cys) rs183238369 0.00126
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_000082.4(ERCC8):c.1080T>C (p.Ala360=) rs4647130 0.00120
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091 0.00116
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749 0.00115
NM_005236.3(ERCC4):c.*3327A>G rs535056033 0.00111
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_004628.5(XPC):c.303C>T (p.Asp101=) rs41545713 0.00095
NM_032043.3(BRIP1):c.*3450T>C rs74859843 0.00088
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_021922.3(FANCE):c.266G>T (p.Arg89Leu) rs45600543 0.00083
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) rs117707719 0.00078
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu) rs190863815 0.00075
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696 0.00072
NM_006502.3(POLH):c.*3088G>A rs373844625 0.00072
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_001018113.3(FANCB):c.*33T>C rs187611308 0.00068
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=) rs144776083 0.00065
NM_004628.5(XPC):c.1539G>C (p.Met513Ile) rs3731130 0.00064
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860 0.00063
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln) rs45467798 0.00060
NM_001018115.3(FANCD2):c.205+9T>G rs34113138 0.00056
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444 0.00053
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_206937.2(LIG4):c.1972A>G (p.Ile658Val) rs2232641 0.00051
NM_006502.3(POLH):c.1433C>T (p.Thr478Met) rs9296419 0.00048
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533 0.00047
NM_006502.3(POLH):c.*3472A>G rs146828890 0.00043
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218 0.00038
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396 0.00031
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930 0.00029
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156 0.00020
NM_001113525.2(ZNF276):c.*69G>A rs17233804 0.00019
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882 0.00015
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219 0.00009
NM_001018113.3(FANCB):c.362G>A (p.Arg121His) rs142289802 0.00008
NM_022725.4(FANCF):c.970A>G (p.Lys324Glu) rs200416138 0.00008
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791 0.00005
NM_004628.5(XPC):c.2421-11T>C rs3731167 0.00005
NM_004628.5(XPC):c.*133G>A rs377250919 0.00004
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg) rs200677800 0.00004
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys) rs139801716 0.00004
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918 0.00003
NM_006502.3(POLH):c.*1940G>A rs527613993 0.00002
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile) rs141457460 0.00001
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668 0.00001
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270 0.00001
NM_002693.3(POLG):c.*30G>A rs3087376 0.00001
NM_006502.3(POLH):c.660+10A>C rs56056074 0.00001
NM_000059.4(BRCA2):c.*839del rs75353978
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000082.4(ERCC8):c.*583T>C rs4647158
NM_000124.4(ERCC6):c.*2946C>T rs146529081
NM_000124.4(ERCC6):c.-87C>A rs4253004
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000136.3(FANCC):c.*1662C>T rs4647556
NM_000136.3(FANCC):c.*1727T>A rs4647557
NM_000136.3(FANCC):c.*42G>A rs7029888
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.1275C>T (p.Tyr425=) rs764447374
NM_001018115.3(FANCD2):c.1278+15C>T rs144167368
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_001018115.3(FANCD2):c.1413+14T>C rs12330599
NM_001018115.3(FANCD2):c.1413+3A>G rs62245508
NM_001018115.3(FANCD2):c.1414-9C>T rs35557429
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001113525.2(ZNF276):c.*201C>T rs1230
NM_001114636.1(FANCL):c.-39A>G rs41281511
NM_001195248.2(APTX):c.484-12T>G rs1981011
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.771-12dup rs34600530
NM_002693.3(POLG):c.*49dup rs3087377
NM_004628.5(XPC):c.*611T>A rs2470352
NM_004628.5(XPC):c.*684G>C rs1126547
NM_005236.3(ERCC4):c.*2577del rs61422086
NM_005236.3(ERCC4):c.*2744T>A rs12325236
NM_005236.3(ERCC4):c.*3913G>C rs112259692
NM_005236.3(ERCC4):c.*3953del rs397778750
NM_005236.3(ERCC4):c.*810G>A rs2276465
NM_006502.3(POLH):c.*2043dup rs368089629
NM_006502.3(POLH):c.*5630G>A rs116106873
NM_006502.3(POLH):c.*5933T>A rs567230078
NM_006502.3(POLH):c.*5934G>A rs534751786
NM_015046.7(SETX):c.*1148T>G rs138991890
NM_015046.7(SETX):c.*1368G>A rs7025
NM_015046.7(SETX):c.*1370G>C rs116822064
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_022725.4(FANCF):c.-10C>T rs3740615
NM_024334.3(TMEM43):c.*766CAAAA[1] rs141474582
NM_032043.3(BRIP1):c.*158T>C rs1978111
NM_032444.4(SLX4):c.1163+10C>G rs80116508
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_174889.4(NDUFAF2):c.-91C>T rs4647036

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.