ClinVar Miner

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

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 177
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HGVS dbSNP
NM_000051.3(ATM):c.*1604C>T rs227091
NM_000051.3(ATM):c.*3393G>T rs4585
NM_000051.3(ATM):c.*540delA rs369583811
NM_000051.3(ATM):c.*548G>T rs227092
NM_000051.3(ATM):c.-111G>A rs189037
NM_000057.4(BLM):c.2555+7T>C rs3815003
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.*369A>G rs7334543
NM_000059.3(BRCA2):c.*532A>G rs11571836
NM_000059.3(BRCA2):c.*839delT rs75353978
NM_000059.3(BRCA2):c.-26G>A rs1799943
NM_000059.3(BRCA2):c.-52A>G rs206118
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1365A>G (p.Ser455=) rs1801439
NM_000059.3(BRCA2):c.2229T>C (p.His743=) rs1801499
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3396A>G (p.Lys1132=) rs1801406
NM_000059.3(BRCA2):c.3807T>C (p.Val1269=) rs543304
NM_000059.3(BRCA2):c.4563A>G (p.Leu1521=) rs206075
NM_000059.3(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.3(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.3(BRCA2):c.7806-14T>C rs9534262
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000082.3(ERCC8):c.*105T>C rs3117
NM_000082.3(ERCC8):c.*439G>T rs4647155
NM_000082.3(ERCC8):c.435T>C (p.Tyr145=) rs4647100
NM_000107.2(DDB2):c.-120G>A rs4647707
NM_000123.3(ERCC5):c.*84G>A rs873601
NM_000123.3(ERCC5):c.-242T>C rs2296147
NM_000123.3(ERCC5):c.-419A>G rs751402
NM_000123.3(ERCC5):c.138T>C (p.His46=) rs1047768
NM_000123.3(ERCC5):c.264+7G>A rs2020915
NM_000123.3(ERCC5):c.2879+14C>T rs4150360
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_000124.4(ERCC6):c.*1830T>C rs11101137
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327
NM_000124.4(ERCC6):c.*379C>G rs4253234
NM_000124.4(ERCC6):c.*53T>C rs4253231
NM_000124.4(ERCC6):c.*933G>A rs3750751
NM_000124.4(ERCC6):c.-78G>T rs4253005
NM_000124.4(ERCC6):c.-87C>A rs4253004
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524
NM_000124.4(ERCC6):c.1821+7C>T rs4253132
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027
NM_000135.4(FANCA):c.*154G>A rs1230
NM_000135.4(FANCA):c.*673A>G rs62704561
NM_000135.4(FANCA):c.*673del rs17233826
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.4(FANCA):c.1826+15T>C rs1800337
NM_000135.4(FANCA):c.2151+8T>C rs1800340
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
NM_000135.4(FANCA):c.710-12A>G rs1800286
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823
NM_000136.3(FANCC):c.*1288T>C rs4647554
NM_000136.3(FANCC):c.*1871G>A rs4647558
NM_000380.3(XPA):c.*203C>G rs3176751
NM_000380.3(XPA):c.-4A>G rs1800975
NM_000400.3(ERCC2):c.2133C>T (p.Asp711=) rs1052555
NM_000400.3(ERCC2):c.2251A>C (p.Lys751Gln) rs13181
NM_000400.3(ERCC2):c.468A>C (p.Arg156=) rs238406
NM_000400.3(ERCC2):c.934G>A (p.Asp312Asn) rs1799793
NM_001018115.2(FANCD2):c.4281+172G>A rs7626117
NM_001018115.2(FANCD2):c.4281+197A>G rs7647987
NM_001018115.2(FANCD2):c.4281+566T>G rs3826
NM_001018115.2(FANCD2):c.4281+673G>A rs9862958
NM_001018115.2(FANCD2):c.4281+685C>T rs11716842
NM_001113378.1(FANCI):c.1698+15C>T rs9806604
NM_001113378.1(FANCI):c.2225G>C (p.Cys742Ser) rs2283432
NM_001113378.1(FANCI):c.257C>T (p.Ala86Val) rs17803620
NM_001113378.1(FANCI):c.3006+15A>C rs2159081
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_001351834.2(ATM):c.3403-13dup rs3218681
NM_001983.4(ERCC1):c.-7-136A>G rs3212935
NM_001983.4(ERCC1):c.-7-71dup rs56298105
NM_001983.4(ERCC1):c.354T>C (p.Asn118=) rs11615
NM_002312.3(LIG4):c.26C>T (p.Thr9Ile) rs1805388
NM_002485.4(NBN):c.*1209A>C rs1063054
NM_002485.4(NBN):c.*1754T>C rs9995
NM_002485.4(NBN):c.*1977T>C rs14448
NM_002485.4(NBN):c.*273G>A rs1063053
NM_002485.4(NBN):c.*541G>C rs2735383
NM_002485.4(NBN):c.102G>A (p.Leu34=) rs1063045
NM_002485.4(NBN):c.1197T>C (p.Asp399=) rs709816
NM_002485.4(NBN):c.1915-7A>G rs2308962
NM_002485.4(NBN):c.2016A>G (p.Pro672=) rs1061302
NM_002485.4(NBN):c.553G>C (p.Glu185Gln) rs1805794
NM_002693.2(POLG):c.*49dup rs3087377
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3643+257T>G rs1061316
NM_002693.2(POLG):c.3643+258A>G rs1860021
NM_004628.4(XPC):c.*684G>C rs1126547
NM_004628.4(XPC):c.*96C>G rs2229090
NM_004628.4(XPC):c.-27G>C rs2607775
NM_004628.4(XPC):c.1496C>T (p.Ala499Val) rs2228000
NM_004628.4(XPC):c.2061G>A (p.Arg687=) rs2227998
NM_004628.4(XPC):c.2251-6A>C rs2279017
NM_004628.4(XPC):c.2815C>A (p.Gln939Lys) rs2228001
NM_004628.4(XPC):c.46C>G (p.Leu16Val) rs1870134
NM_004629.1(FANCG):c.-392A>G rs10972302
NM_004629.1(FANCG):c.-453_-452insT rs16935545
NM_004629.1(FANCG):c.-490G>T rs10972303
NM_004629.1(FANCG):c.1636+7A>G rs587118
NM_005236.2(ERCC4):c.*2513C>A rs11075223
NM_005236.2(ERCC4):c.*2577C>A rs56012340
NM_005236.2(ERCC4):c.*2577delC rs61422086
NM_005236.2(ERCC4):c.*3032G>T rs4781562
NM_005236.2(ERCC4):c.*3195G>A rs4781563
NM_005236.2(ERCC4):c.*3953del rs397778750
NM_005236.2(ERCC4):c.*484G>T rs3743538
NM_005236.2(ERCC4):c.*726G>C rs2276464
NM_005236.2(ERCC4):c.*810G>A rs2276465
NM_005236.2(ERCC4):c.*971C>G rs2276466
NM_005236.2(ERCC4):c.207+11G>A rs762521
NM_005236.2(ERCC4):c.2505T>C (p.Ser835=) rs1799801
NM_005236.2(ERCC4):c.974-7G>A rs254942
NM_005591.3(MRE11):c.*2501A>G rs2155209
NM_005591.3(MRE11):c.403-6G>A rs535801
NM_006502.2(POLH):c.*1858A>G rs9472090
NM_006502.2(POLH):c.*2043dup rs368089629
NM_006502.2(POLH):c.*2489C>T rs6922830
NM_006502.2(POLH):c.*290C>T rs6899628
NM_006502.2(POLH):c.*3847G>A rs145612937
NM_006502.2(POLH):c.1939A>T (p.Met647Leu) rs6941583
NM_006892.4(DNMT3B):c.*1318del rs398088406
NM_006892.4(DNMT3B):c.*827A>G rs2424932
NM_006892.4(DNMT3B):c.1252+13T>G rs910085
NM_006892.4(DNMT3B):c.1572T>C (p.Cys524=) rs6058891
NM_006892.4(DNMT3B):c.1674T>C (p.Tyr558=) rs2424922
NM_006892.4(DNMT3B):c.1760-5C>G rs1997797
NM_006892.4(DNMT3B):c.1906-5T>C rs2424928
NM_018062.3(FANCL):c.981T>C (p.Ser327=) rs848291
NM_020937.3(FANCM):c.4516-5_4516-2delCTTA rs796584585
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu) rs1367580
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe) rs10138997
NM_021922.2(FANCE):c.*216delC rs45584740
NM_021922.2(FANCE):c.1504G>A (p.Ala502Thr) rs9462088
NM_021922.2(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_022725.3(FANCF):c.*207C>T rs4447177
NM_022725.3(FANCF):c.*632G>A rs444923
NM_022725.3(FANCF):c.*819C>T rs450946
NM_022725.3(FANCF):c.-10C>T rs3740615
NM_024334.2(TMEM43):c.*115T>C rs1043943
NM_024334.2(TMEM43):c.*719G>T rs3796308
NM_024334.2(TMEM43):c.*766_*770CAAAA[1] rs141474582
NM_024675.3(PALB2):c.-47G>A rs8053188
NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg) rs152451
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528
NM_033084.4(FANCD2):c.378-6_378-5del rs55973240
NM_033084.5(FANCD2):c.1122A>G (p.Val374=) rs34046352
NM_033084.5(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_033084.5(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_033084.5(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.5(FANCD2):c.1214A>G (p.Asn405Ser) rs73126218
NM_033084.5(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_033084.5(FANCD2):c.1413+14T>C rs12330599
NM_033084.5(FANCD2):c.1413+3A>G rs62245508
NM_033084.5(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017
NM_033084.5(FANCD2):c.3849+13A>G rs9811771
NM_033084.5(FANCD2):c.4098T>G (p.Leu1366=) rs2272125
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174889.4(NDUFAF2):c.-97A>G rs158922
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921

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