ClinVar Miner

List of variants reported as benign for DNA repair disease by Invitae

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 479
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1176C>G (p.Gly392=) rs1800727
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.186-7C>T rs55674039
NM_000051.3(ATM):c.1899-55T>G rs4987951
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2127T>C (p.Ile709=) rs56252953
NM_000051.3(ATM):c.2193C>T (p.Tyr731=) rs2229019
NM_000051.3(ATM):c.2220A>G (p.Ala740=) rs56353517
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.3(ATM):c.2466+7A>G rs55812024
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.2685A>G (p.Leu895=) rs3218687
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3150T>C (p.Leu1050=) rs3092859
NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) rs1800057
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3517T>C (p.Leu1173=) rs141460670
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.3993+5G>T rs3092842
NM_000051.3(ATM):c.4042T>C (p.Leu1348=) rs56355831
NM_000051.3(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.3(ATM):c.4753A>G (p.Arg1585Gly) rs781275128
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6108T>C (p.Tyr2036=) rs3092826
NM_000051.3(ATM):c.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6348-8T>C rs730881292
NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) rs56815840
NM_000051.3(ATM):c.657T>C (p.Cys219=) rs2235003
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.6975+13del rs763287238
NM_000051.3(ATM):c.6975+13dup rs763287238
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) rs4988111
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7927+13dup rs587781324
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.3(ATM):c.8730C>G (p.Leu2910=) rs551041839
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1360-7C>T rs17232616
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.4(FANCA):c.2364C>T (p.Ala788=) rs149754397
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3514-4A>G rs149388130
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361
NM_000135.4(FANCA):c.3935-9G>A rs9282680
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000136.3(FANCC):c.*5C>T rs117175949
NM_000136.3(FANCC):c.1330-3C>T rs4647542
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520
NM_000136.3(FANCC):c.843+4C>T rs4647506
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602
NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu) rs147255018
NM_001018113.3(FANCB):c.2165+10A>T rs184385334
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg) rs142101123
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001018113.3(FANCB):c.507T>C (p.Ser169=) rs149609970
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) rs754552650
NM_001018113.3(FANCB):c.897C>T (p.Phe299=) rs753443421
NM_001018113.3(FANCB):c.960T>G (p.Ala320=) rs139045247
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) rs200161949
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001113378.1(FANCI):c.1114G>A (p.Val372Ile) rs76788798
NM_001113378.1(FANCI):c.1179T>C (p.Tyr393=) rs3743377
NM_001113378.1(FANCI):c.1211T>C (p.Ile404Thr) rs79080874
NM_001113378.1(FANCI):c.1294-8C>T rs16942931
NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) rs34405660
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) rs62020347
NM_001113378.1(FANCI):c.1699-7C>A rs28446881
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.1893A>C (p.Leu631Phe) rs118138806
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2028C>T (p.Ala676=) rs16942969
NM_001113378.1(FANCI):c.2056C>A (p.Gln686Lys) rs28378332
NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) rs11857960
NM_001113378.1(FANCI):c.2487T>G (p.Leu829=) rs145762491
NM_001113378.1(FANCI):c.2547A>G (p.Lys849=) rs7183618
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.1(FANCI):c.2817G>T (p.Lys939Asn) rs145192583
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001113378.1(FANCI):c.286G>A (p.Glu96Lys) rs149243307
NM_001113378.1(FANCI):c.2883A>G (p.Gln961=) rs11556721
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) rs138675752
NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) rs34462132
NM_001113378.1(FANCI):c.3255+6dup rs878854178
NM_001113378.1(FANCI):c.3525C>A (p.Ala1175=) rs114810692
NM_001113378.1(FANCI):c.3592-8T>C rs185599057
NM_001113378.1(FANCI):c.3660T>C (p.Ser1220=) rs116380142
NM_001113378.1(FANCI):c.3846C>T (p.Ser1282=) rs34557339
NM_001113378.1(FANCI):c.3865A>G (p.Ile1289Val) rs114549781
NM_001113378.1(FANCI):c.868G>A (p.Val290Met) rs113772230
NM_002485.4(NBN):c.102G>A (p.Leu34=) rs1063045
NM_002485.4(NBN):c.1035C>T (p.Gly345=) rs146605798
NM_002485.4(NBN):c.1197T>C (p.Asp399=) rs709816
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1398-18dup rs587780555
NM_002485.4(NBN):c.1489A>G (p.Thr497Ala) rs3026268
NM_002485.4(NBN):c.1690G>A (p.Glu564Lys) rs72550742
NM_002485.4(NBN):c.1809C>A (p.Phe603Leu) rs192236678
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_002485.4(NBN):c.1914+10G>A rs577706448
NM_002485.4(NBN):c.1914+9C>T rs13312938
NM_002485.4(NBN):c.1915-7A>G rs2308962
NM_002485.4(NBN):c.2016A>G (p.Pro672=) rs1061302
NM_002485.4(NBN):c.2082T>G (p.Pro694=) rs7823648
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) rs72563785
NM_002485.4(NBN):c.2220T>C (p.Ala740=) rs147494981
NM_002485.4(NBN):c.279G>A (p.Ser93=) rs587780781
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.37+5G>A rs116735828
NM_002485.4(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.4(NBN):c.441C>T (p.Cys147=) rs137857529
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.553G>C (p.Glu185Gln) rs1805794
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.797C>T (p.Pro266Leu) rs769420
NM_004629.1(FANCG):c.1133C>T (p.Ser378Leu) rs4986939
NM_004629.1(FANCG):c.1538G>A (p.Arg513Gln) rs17885240
NM_004629.1(FANCG):c.1638T>C (p.Gly546=) rs45537335
NM_004629.1(FANCG):c.20C>T (p.Ser7Phe) rs35984312
NM_004629.1(FANCG):c.238C>T (p.Leu80=) rs115131067
NM_004629.1(FANCG):c.375C>G (p.Val125=) rs199754122
NM_004629.1(FANCG):c.640C>T (p.Arg214Cys) rs61757385
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_004629.1(FANCG):c.988C>T (p.Pro330Ser) rs4986940
NM_005236.2(ERCC4):c.1446A>G (p.Glu482=) rs114077770
NM_005236.2(ERCC4):c.1812-5T>C rs2020952
NM_005236.2(ERCC4):c.1884A>G (p.Glu628=) rs2020958
NM_005236.2(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955
NM_005236.2(ERCC4):c.2463A>G (p.Pro821=) rs2020953
NM_005236.2(ERCC4):c.252C>T (p.Leu84=) rs3136056
NM_005236.2(ERCC4):c.2617A>G (p.Ile873Val) rs2020957
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005236.2(ERCC4):c.2655G>A (p.Thr885=) rs16963255
NM_005236.2(ERCC4):c.2724C>T (p.Val908=) rs3136225
NM_005236.2(ERCC4):c.33C>T (p.Ala11=) rs3136042
NM_005236.2(ERCC4):c.389-5C>T rs377224276
NM_005236.2(ERCC4):c.974-7_974-6invGT
NM_005591.3(MRE11):c.1002C>G (p.Ser334Arg) rs115244417
NM_005591.3(MRE11):c.1032T>G (p.Leu344=) rs11020793
NM_005591.3(MRE11):c.121G>A (p.Asp41Asn) rs116679717
NM_005591.3(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005591.3(MRE11):c.1780A>G (p.Arg594Gly) rs576878377
NM_005591.3(MRE11):c.1994+10G>A rs1805366
NM_005591.3(MRE11):c.2092A>G (p.Met698Val) rs1805362
NM_005591.3(MRE11):c.315-14_315-13dup rs35062043
NM_005591.3(MRE11):c.403-6G>A rs535801
NM_005591.3(MRE11):c.771A>G (p.Glu257=) rs13447632
NM_005591.3(MRE11):c.822T>C (p.Leu274=) rs137868143
NM_005591.3(MRE11):c.969A>G (p.Pro323=) rs13447633
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810
NM_006892.4(DNMT3B):c.1413C>T (p.Asp471=) rs6119965
NM_006892.4(DNMT3B):c.1557G>A (p.Gln519=) rs150314851
NM_006892.4(DNMT3B):c.1760-8C>G rs2424926
NM_006892.4(DNMT3B):c.1760-8C>T rs2424926
NM_006892.4(DNMT3B):c.1878C>T (p.Asn626=) rs17123655
NM_006892.4(DNMT3B):c.1881C>T (p.Asp627=) rs17123657
NM_006892.4(DNMT3B):c.1996+6C>T rs77355896
NM_006892.4(DNMT3B):c.1996+9C>T rs143448185
NM_006892.4(DNMT3B):c.42C>T (p.Ala14=) rs730823
NM_014797.2(ZBTB24):c.1204+5G>A rs80351559
NM_014797.2(ZBTB24):c.1389C>G (p.Ser463=) rs2232447
NM_014797.2(ZBTB24):c.146G>A (p.Arg49Gln) rs147441359
NM_014797.2(ZBTB24):c.14C>T (p.Ser5Leu) rs192918926
NM_014797.2(ZBTB24):c.1552G>A (p.Ala518Thr) rs2232448
NM_014797.2(ZBTB24):c.1672G>A (p.Asp558Asn) rs61731736
NM_014797.2(ZBTB24):c.1688T>C (p.Ile563Thr) rs142830104
NM_014797.2(ZBTB24):c.1701C>T (p.Pro567=) rs2232449
NM_014797.2(ZBTB24):c.579G>A (p.Gln193=) rs2227263
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846
NM_015046.7(SETX):c.2124T>C (p.Ser708=) rs139236924
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937
NM_015046.7(SETX):c.3057_3059TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.5781+10G>A rs537414669
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589
NM_015046.7(SETX):c.7200-11_7200-10del rs531485265
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716
NM_018062.3(FANCL):c.1077T>C (p.Cys359=) rs11539575
NM_018062.3(FANCL):c.108C>G (p.Phe36Leu) rs149726602
NM_018062.3(FANCL):c.1096_1099dup (p.Thr367fs) rs759217526
NM_018062.3(FANCL):c.112C>T (p.Leu38Phe) rs55849827
NM_018062.3(FANCL):c.402T>C (p.Ser134=) rs145284589
NM_018062.3(FANCL):c.670A>G (p.Thr224Ala) rs149731356
NM_018062.3(FANCL):c.755T>G (p.Phe252Cys) rs139801716
NM_018062.3(FANCL):c.817T>C (p.Leu273=) rs61753272
NM_020937.4(FANCM):c.1041G>A (p.Pro347=) rs140998495
NM_020937.4(FANCM):c.1964A>G (p.Asn655Ser) rs61753893
NM_020937.4(FANCM):c.2190A>G (p.Gln730=) rs117392855
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala) rs61746895
NM_020937.4(FANCM):c.2445G>A (p.Ser815=) rs61745871
NM_020937.4(FANCM):c.2670T>C (p.Phe890=) rs8017226
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val) rs148871932
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys) rs77532752
NM_020937.4(FANCM):c.30G>A (p.Gln10=) rs145745979
NM_020937.4(FANCM):c.3547T>C (p.Leu1183=) rs142667852
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser) rs45604036
NM_020937.4(FANCM):c.3863A>G (p.Asn1288Ser) rs116519044
NM_020937.4(FANCM):c.3920A>G (p.Tyr1307Cys) rs61730251
NM_020937.4(FANCM):c.4222+7T>G rs148675704
NM_020937.4(FANCM):c.4260C>T (p.Asp1420=) rs113819179
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp) rs113986680
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943
NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln) rs138151018
NM_020937.4(FANCM):c.5142G>A (p.Ala1714=) rs111894696
NM_020937.4(FANCM):c.5190G>A (p.Gln1730=) rs7142192
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493
NM_020937.4(FANCM):c.5577T>C (p.Asn1859=) rs113831595
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser) rs45557033
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr) rs79343837
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=) rs142333130
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=) rs8018014
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534
NM_020937.4(FANCM):c.990A>G (p.Thr330=) rs138677111
NM_021922.2(FANCE):c.1028G>A (p.Arg343Gln) rs45467798
NM_021922.2(FANCE):c.1071C>T (p.Leu357=) rs3823434
NM_021922.2(FANCE):c.1310T>C (p.Met437Thr) rs142903218
NM_021922.2(FANCE):c.1333C>T (p.Pro445Ser) rs141551053
NM_021922.2(FANCE):c.1572G>A (p.Arg524=) rs115195341
NM_021922.2(FANCE):c.248+7C>A rs186563531
NM_021922.2(FANCE):c.253C>T (p.Pro85Ser) rs145068586
NM_021922.2(FANCE):c.266G>T (p.Arg89Leu) rs45600543
NM_021922.2(FANCE):c.611C>T (p.Ser204Leu) rs7761870
NM_021922.2(FANCE):c.733_735GGA[1] (p.Gly246del) rs45451605
NM_022725.3(FANCF):c.199A>C (p.Arg67=) rs146647469
NM_022725.3(FANCF):c.246C>T (p.Asn82=) rs139724351
NM_022725.3(FANCF):c.373G>A (p.Asp125Asn) rs61752920
NM_022725.3(FANCF):c.387C>T (p.Leu129=) rs45556032
NM_022725.3(FANCF):c.465A>T (p.Pro155=) rs201215734
NM_022725.3(FANCF):c.557C>T (p.Ala186Val) rs113910234
NM_022725.3(FANCF):c.624G>T (p.Ala208=) rs7103674
NM_022725.3(FANCF):c.786A>G (p.Leu262=) rs11026706
NM_022725.3(FANCF):c.825G>A (p.Leu275=) rs36045913
NM_022725.3(FANCF):c.883G>A (p.Val295Ile) rs7103293
NM_022725.3(FANCF):c.959C>T (p.Pro320Leu) rs45451294
NM_022725.3(FANCF):c.96C>T (p.Arg32=) rs151253274
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_032043.2(BRIP1):c.1890A>G (p.Thr630=) rs145796331
NM_032043.2(BRIP1):c.195A>G (p.Gln65=) rs141436143
NM_032043.2(BRIP1):c.2061G>C (p.Val687=) rs112414873
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2400C>T (p.Tyr800=) rs574552037
NM_032043.2(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) rs116952709
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.577G>A (p.Val193Ile) rs4988346
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169
NM_032444.4(SLX4):c.1163+10C>G rs80116508
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359
NM_032444.4(SLX4):c.1802C>T (p.Ser601Leu) rs59706816
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp) rs1056085
NM_032444.4(SLX4):c.2034T>G (p.Val678=) rs200278096
NM_032444.4(SLX4):c.2235C>T (p.Thr745=) rs75184268
NM_032444.4(SLX4):c.231A>G (p.Gln77=) rs143279888
NM_032444.4(SLX4):c.2328-9G>C rs73505419
NM_032444.4(SLX4):c.2628C>T (p.Asp876=) rs201279467
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser) rs79448721
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) rs117707719
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006
NM_032444.4(SLX4):c.2844G>A (p.Ala948=) rs376877866
NM_032444.4(SLX4):c.2854_2855delinsAT (p.Ala952Met) rs863224277
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784
NM_032444.4(SLX4):c.3109T>C (p.Leu1037=) rs58735123
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917
NM_032444.4(SLX4):c.3245A>G (p.Gln1082Arg) rs368657696
NM_032444.4(SLX4):c.3315C>T (p.Ser1105=) rs183029626
NM_032444.4(SLX4):c.336G>A (p.Pro112=) rs79126454
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530
NM_032444.4(SLX4):c.3762G>A (p.Ser1254=) rs3810814
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965
NM_032444.4(SLX4):c.3868C>A (p.His1290Asn) rs112596894
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836
NM_032444.4(SLX4):c.4068G>A (p.Pro1356=) rs115491049
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln) rs79174372
NM_032444.4(SLX4):c.4241C>T (p.Pro1414Leu) rs140892471
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962
NM_032444.4(SLX4):c.4479G>A (p.Ser1493=) rs150097733
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099
NM_032444.4(SLX4):c.4600G>A (p.Gly1534Ser) rs78770603
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr) rs75182789
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=) rs144776083
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850
NM_032444.4(SLX4):c.630A>G (p.Leu210=) rs746155183
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp) rs114744903
NM_032444.4(SLX4):c.86G>A (p.Arg29His) rs149117119
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506
NM_032444.4(SLX4):c.999C>T (p.Ile333=) rs7198338
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.1156T>G (p.Phe386Val) rs149125003
NM_033084.5(FANCD2):c.1214A>G (p.Asn405Ser) rs73126218
NM_033084.5(FANCD2):c.1336C>G (p.Leu446Val) rs34557223
NM_033084.5(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_033084.5(FANCD2):c.1414-9C>T rs35557429
NM_033084.5(FANCD2):c.1509C>T (p.Asn503=) rs6785756
NM_033084.5(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_033084.5(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315
NM_033084.5(FANCD2):c.195G>C (p.Gln65His) rs36084488
NM_033084.5(FANCD2):c.205+9T>G rs34113138
NM_033084.5(FANCD2):c.2124T>C (p.Phe708=) rs9809716
NM_033084.5(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017
NM_033084.5(FANCD2):c.2148C>G (p.Thr716=) rs55856815
NM_033084.5(FANCD2):c.2484G>A (p.Lys828=) rs55980657
NM_033084.5(FANCD2):c.2702G>T (p.Gly901Val) rs35495399
NM_033084.5(FANCD2):c.2712C>T (p.Asn904=) rs35594075
NM_033084.5(FANCD2):c.2723C>T (p.Thr908Ile) rs188375397
NM_033084.5(FANCD2):c.2877A>G (p.Gln959=) rs145953386
NM_033084.5(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860
NM_033084.5(FANCD2):c.4038+8G>A rs190990145
NM_033084.5(FANCD2):c.516A>G (p.Ile172Met) rs35173688
NM_033084.5(FANCD2):c.577A>G (p.Thr193Ala) rs34936017
NM_033084.5(FANCD2):c.983G>A (p.Arg328Gln) rs35625434
NM_058216.3(RAD51C):c.146-8A>G rs201079501
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895

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