ClinVar Miner

List of variants reported as likely benign for DNA repair disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 459
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_004628.5(XPC):c.1362T>C (p.Asp454=) rs3731128 0.01075
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_000380.4(XPA):c.766A>G (p.Met256Val) rs57519506 0.00899
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_001195248.2(APTX):c.-5+16G>T rs145658621 0.00564
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_177417.3(KLC3):c.*100C>T rs142103003 0.00388
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_000123.4(ERCC5):c.641G>A (p.Arg214His) rs146833751 0.00341
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_004629.2(FANCG):c.238C>T (p.Leu80=) rs115131067 0.00330
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
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_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_007294.4(BRCA1):c.-19-361C>T rs141625477 0.00217
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_032444.4(SLX4):c.2328-9G>C rs73505419 0.00188
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_001018115.3(FANCD2):c.3560+20C>T rs55804542 0.00162
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=) rs147605089 0.00146
NM_004629.2(FANCG):c.646+12A>G rs17878604 0.00139
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_004628.5(XPC):c.1497G>A (p.Ala499=) rs150344169 0.00123
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala) rs149803148 0.00121
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_007294.4(BRCA1):c.5277+78G>A rs80358107 0.00099
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000400.4(ERCC2):c.1737C>T (p.Val579=) rs3916876 0.00096
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_021922.3(FANCE):c.522G>A (p.Gly174=) rs145648734 0.00078
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_001018115.3(FANCD2):c.2269+12A>G rs34751191 0.00067
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00053
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=) rs140844106 0.00051
NM_006502.3(POLH):c.1433C>T (p.Thr478Met) rs9296419 0.00048
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_032444.4(SLX4):c.2160+18C>T rs373726275 0.00040
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596 0.00038
NM_000122.2(ERCC3):c.1730+16T>G rs202086538 0.00036
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_001113378.2(FANCI):c.1992+10T>C rs375345390 0.00036
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=) rs371915501 0.00034
NM_001113378.2(FANCI):c.2291+12C>G rs369540539 0.00034
NM_000136.3(FANCC):c.-78-18T>G rs560839822 0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_000135.4(FANCA):c.1225+12C>T rs200672872 0.00030
NM_000135.4(FANCA):c.1716-20T>C rs367726674 0.00030
NM_000251.3(MSH2):c.1661+11C>T rs377154011 0.00030
NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=) rs373461068 0.00029
NM_000135.4(FANCA):c.801T>C (p.Val267=) rs55660936 0.00028
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_001018115.3(FANCD2):c.1766+16C>T rs201040143 0.00026
NM_001113378.2(FANCI):c.1822-18C>T rs373603139 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=) rs369047997 0.00025
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741 0.00025
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 0.00024
NM_001018115.3(FANCD2):c.609T>C (p.Ala203=) rs374019283 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000249.4(MLH1):c.307-19A>G rs121909451 0.00022
NM_005732.4(RAD50):c.1677C>T (p.His559=) rs142619269 0.00022
NM_032444.4(SLX4):c.1065G>A (p.Gln355=) rs200183071 0.00022
NM_001018115.3(FANCD2):c.696-18T>G rs56083801 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_021922.3(FANCE):c.1316+10C>T rs200479051 0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 0.00021
NM_032444.4(SLX4):c.465A>G (p.Glu155=) rs138512851 0.00020
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_032444.4(SLX4):c.1389A>G (p.Lys463=) rs376668879 0.00019
NM_032444.4(SLX4):c.2079C>T (p.Val693=) rs150206155 0.00018
NM_032444.4(SLX4):c.4545C>T (p.Asp1515=) rs142851654 0.00018
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_032444.4(SLX4):c.5433C>T (p.Ala1811=) rs142477564 0.00017
NM_000135.4(FANCA):c.2152-20T>A rs200403206 0.00016
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=) rs768378979 0.00016
NM_018062.4(FANCL):c.97-11A>G rs201875132 0.00016
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=) rs745841768 0.00015
NM_001018115.3(FANCD2):c.888+9T>C rs777620616 0.00015
NM_001113378.2(FANCI):c.446-6T>G rs377255054 0.00015
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_032444.4(SLX4):c.5403G>C (p.Leu1801=) rs577770118 0.00015
NM_001018115.3(FANCD2):c.571-19A>T rs141566218 0.00014
NM_018062.4(FANCL):c.1021-6T>C rs377052216 0.00014
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000400.4(ERCC2):c.1317C>T (p.Asp439=) rs200588470 0.00013
NM_001018115.3(FANCD2):c.206-20C>A rs200170760 0.00013
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=) rs149395670 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_000135.4(FANCA):c.1776+11G>A rs377308050 0.00012
NM_000135.4(FANCA):c.1471-20G>A rs374579239 0.00011
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00011
NM_000136.3(FANCC):c.1534-9T>C rs536836859 0.00011
NM_000136.3(FANCC):c.250+16G>A rs371993188 0.00011
NM_001018115.3(FANCD2):c.4281+81G>A rs145889419 0.00011
NM_024675.4(PALB2):c.1455T>G (p.Thr485=) rs566105533 0.00011
NM_032444.4(SLX4):c.2241C>T (p.Ala747=) rs143790956 0.00011
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) rs144704750 0.00010
NM_001018113.3(FANCB):c.504C>G (p.Ser168=) rs373738816 0.00010
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_004629.2(FANCG):c.729T>C (p.Pro243=) rs199736443 0.00010
NM_032444.4(SLX4):c.1563T>C (p.Pro521=) rs146360238 0.00010
NM_032444.4(SLX4):c.1602C>T (p.Ser534=) rs201754095 0.00010
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000135.4(FANCA):c.1776+13C>T rs371272310 0.00009
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828 0.00009
NM_000136.3(FANCC):c.251-20T>C rs370867462 0.00009
NM_000179.3(MSH6):c.3172+20T>C rs3136335 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_001018115.3(FANCD2):c.3165C>T (p.Tyr1055=) rs375929975 0.00009
NM_001113378.2(FANCI):c.165C>T (p.Pro55=) rs139039885 0.00009
NM_032444.4(SLX4):c.1641G>A (p.Thr547=) rs200497436 0.00009
NM_000136.3(FANCC):c.1533+13G>A rs200515307 0.00008
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00008
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684 0.00008
NM_001018115.3(FANCD2):c.439-18C>A rs184060118 0.00008
NM_001113378.2(FANCI):c.669+14A>G rs369804967 0.00008
NM_021922.3(FANCE):c.1238-10C>T rs765940689 0.00008
NM_032444.4(SLX4):c.5229G>A (p.Ser1743=) rs140231739 0.00008
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00007
NM_024675.4(PALB2):c.2032C>T (p.Leu678=) rs376189676 0.00007
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu) rs534528576 0.00007
NM_032444.4(SLX4):c.2034T>G (p.Val678=) rs200278096 0.00007
NM_032444.4(SLX4):c.4344C>T (p.Pro1448=) rs368388100 0.00007
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.1901-10C>T rs766654290 0.00006
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 0.00006
NM_000135.4(FANCA):c.2778+12T>C rs775047268 0.00006
NM_000135.4(FANCA):c.3408+16A>G rs373636902 0.00006
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) rs199551160 0.00006
NM_001018115.3(FANCD2):c.889-9T>A rs767122938 0.00006
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=) rs563218968 0.00006
NM_001113378.2(FANCI):c.2890-19G>A rs758850736 0.00006
NM_021922.3(FANCE):c.901-20C>T rs754828130 0.00006
NM_021922.3(FANCE):c.954A>G (p.Glu318=) rs149719310 0.00006
NM_021922.3(FANCE):c.970-17C>A rs758179752 0.00006
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=) rs45565738 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_032444.4(SLX4):c.2898G>A (p.Gln966=) rs748700450 0.00006
NM_032444.4(SLX4):c.4335G>C (p.Arg1445=) rs139377113 0.00006
NM_000135.4(FANCA):c.2317-8C>T rs753766357 0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018115.3(FANCD2):c.2022-4G>A rs748941966 0.00005
NM_001018115.3(FANCD2):c.3850-17G>T rs369702202 0.00005
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791 0.00005
NM_001113378.2(FANCI):c.2946C>T (p.Ala982=) rs762453164 0.00005
NM_001113378.2(FANCI):c.3007-7A>G rs778906473 0.00005
NM_001113378.2(FANCI):c.534C>T (p.Thr178=) rs754733731 0.00005
NM_004629.2(FANCG):c.1158C>G (p.Pro386=) rs201041980 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_021922.3(FANCE):c.210G>A (p.Glu70=) rs1008512809 0.00005
NM_032444.4(SLX4):c.237T>C (p.Ala79=) rs375620914 0.00005
NM_000135.4(FANCA):c.2602-16T>G rs762865666 0.00004
NM_000135.4(FANCA):c.3239+7C>T rs775293779 0.00004
NM_000179.3(MSH6):c.3557-17A>T rs542542093 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_001018115.3(FANCD2):c.2058G>A (p.Leu686=) rs773593671 0.00004
NM_001018115.3(FANCD2):c.695+19A>G rs369890094 0.00004
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=) rs139857614 0.00004
NM_001113378.2(FANCI):c.993G>A (p.Lys331=) rs146916445 0.00004
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg) rs200677800 0.00004
NM_004629.2(FANCG):c.795A>T (p.Ala265=) rs537570311 0.00004
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=) rs763332387 0.00004
NM_005732.4(RAD50):c.1602A>G (p.Thr534=) rs150348197 0.00004
NM_007294.4(BRCA1):c.-19-3A>G rs273898669 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_018062.4(FANCL):c.375-15T>C rs767038810 0.00004
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys) rs139801716 0.00004
NM_024675.4(PALB2):c.2834+13C>A rs551516577 0.00004
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=) rs141570833 0.00004
NM_024675.4(PALB2):c.900A>G (p.Thr300=) rs771660444 0.00004
NM_032444.4(SLX4):c.1764C>T (p.His588=) rs201638593 0.00004
NM_032444.4(SLX4):c.1824G>A (p.Glu608=) rs1028896815 0.00004
NM_032444.4(SLX4):c.4456A>C (p.Arg1486=) rs200536796 0.00004
NM_032444.4(SLX4):c.4740-5G>A rs372656323 0.00004
NM_032444.4(SLX4):c.5382G>A (p.Ser1794=) rs368848191 0.00004
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=) rs201000407 0.00004
NM_058216.3(RAD51C):c.546T>G (p.Leu182=) rs1476282276 0.00004
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000135.4(FANCA):c.12G>C (p.Ser4=) rs1009539881 0.00003
NM_000135.4(FANCA):c.2964G>C (p.Leu988=) rs751495133 0.00003
NM_000135.4(FANCA):c.3349-19G>T rs377180908 0.00003
NM_000135.4(FANCA):c.3627-9C>T rs547300201 0.00003
NM_000135.4(FANCA):c.426+13C>T rs755598667 0.00003
NM_000136.3(FANCC):c.1330-6G>T rs1223668739 0.00003
NM_001018115.3(FANCD2):c.2716-15G>A rs771386311 0.00003
NM_001018115.3(FANCD2):c.3466+9C>G rs33998487 0.00003
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=) rs768234660 0.00003
NM_001113378.2(FANCI):c.705C>T (p.Ala235=) rs542117175 0.00003
NM_018062.4(FANCL):c.471+12G>A rs369756342 0.00003
NM_021922.3(FANCE):c.1092C>T (p.Thr364=) rs776318917 0.00003
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) rs754720030 0.00003
NM_032444.4(SLX4):c.2022C>T (p.Leu674=) rs139900828 0.00003
NM_032444.4(SLX4):c.4185C>T (p.Val1395=) rs993089915 0.00003
NM_032444.4(SLX4):c.4599T>C (p.Ala1533=) rs1320958776 0.00003
NM_058216.3(RAD51C):c.705+14T>C rs771168730 0.00003
NM_058216.3(RAD51C):c.905-19T>C rs368114768 0.00003
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=) rs1057522378 0.00002
NM_000135.4(FANCA):c.1236G>A (p.Ala412=) rs371993688 0.00002
NM_000135.4(FANCA):c.2151+20A>G rs374555419 0.00002
NM_000135.4(FANCA):c.3627-17C>T rs754751562 0.00002
NM_000135.4(FANCA):c.57G>C (p.Arg19=) rs930955916 0.00002
NM_000135.4(FANCA):c.6C>G (p.Ser2=) rs982258436 0.00002
NM_000135.4(FANCA):c.888G>A (p.Arg296=) rs942855447 0.00002
NM_000136.3(FANCC):c.165+17A>G rs1046183823 0.00002
NM_000179.3(MSH6):c.3801+14G>T rs755626529 0.00002
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=) rs1034395123 0.00002
NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=) rs766286504 0.00002
NM_001018115.3(FANCD2):c.377+17T>C rs45593431 0.00002
NM_001018115.3(FANCD2):c.469T>C (p.Leu157=) rs373600764 0.00002
NM_001113378.2(FANCI):c.1112+8G>C rs761741904 0.00002
NM_001113378.2(FANCI):c.1513-16A>C rs768296894 0.00002
NM_001113378.2(FANCI):c.1923G>A (p.Leu641=) rs750462548 0.00002
NM_001113378.2(FANCI):c.976-5T>C rs775680372 0.00002
NM_002485.5(NBN):c.995-17A>G rs372875251 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_021922.3(FANCE):c.399C>T (p.Leu133=) rs1056749845 0.00002
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=) rs748363227 0.00002
NM_032444.4(SLX4):c.1977G>A (p.Ser659=) rs572117922 0.00002
NM_058216.3(RAD51C):c.1089G>A (p.Leu363=) rs559647198 0.00002
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=) rs779075029 0.00001
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=) rs786201237 0.00001
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=) rs762458631 0.00001
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=) rs750651726 0.00001
NM_000124.4(ERCC6):c.804A>G (p.Ala268=) rs777672678 0.00001
NM_000135.4(FANCA):c.1007-17T>C rs760059831 0.00001
NM_000135.4(FANCA):c.1360-12C>T rs951725614 0.00001
NM_000135.4(FANCA):c.1471-8A>G rs374717514 0.00001
NM_000135.4(FANCA):c.1701C>T (p.Thr567=) rs745466726 0.00001
NM_000135.4(FANCA):c.2022G>A (p.Ser674=) rs371997754 0.00001
NM_000135.4(FANCA):c.207T>C (p.Cys69=) rs941660593 0.00001
NM_000135.4(FANCA):c.2247C>T (p.Phe749=) rs772842754 0.00001
NM_000135.4(FANCA):c.2322G>A (p.Pro774=) rs931091451 0.00001
NM_000135.4(FANCA):c.2481G>A (p.Arg827=) rs749895479 0.00001
NM_000135.4(FANCA):c.2852+13A>T rs189890126 0.00001
NM_000135.4(FANCA):c.2937T>C (p.Ala979=) rs762638564 0.00001
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=) rs768502785 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=) rs946344673 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000135.4(FANCA):c.4251C>T (p.His1417=) rs752333498 0.00001
NM_000135.4(FANCA):c.483C>T (p.Phe161=) rs769389376 0.00001
NM_000135.4(FANCA):c.894-10G>A rs751912856 0.00001
NM_000136.3(FANCC):c.1534-18C>T rs1289718209 0.00001
NM_000136.3(FANCC):c.166-9C>G rs372507085 0.00001
NM_000136.3(FANCC):c.687-15A>C rs765327075 0.00001
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly) rs571718677 0.00001
NM_001018115.3(FANCD2):c.1414-4A>G rs781613701 0.00001
NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=) rs769844392 0.00001
NM_001018115.3(FANCD2):c.3126C>T (p.His1042=) rs552885346 0.00001
NM_001018115.3(FANCD2):c.3441T>C (p.Ala1147=) rs533541893 0.00001
NM_001018115.3(FANCD2):c.3459A>G (p.Glu1153=) rs570459552 0.00001
NM_001018115.3(FANCD2):c.3963+11A>G rs945877549 0.00001
NM_001018115.3(FANCD2):c.784-9A>G rs1388537203 0.00001
NM_001113378.2(FANCI):c.3059-17T>A rs778641563 0.00001
NM_001113378.2(FANCI):c.3592-16C>T rs754610218 0.00001
NM_001113378.2(FANCI):c.3592-9G>A rs200021557 0.00001
NM_001113378.2(FANCI):c.3652-9T>C rs971308997 0.00001
NM_004629.2(FANCG):c.1086C>T (p.Asp362=) rs376623996 0.00001
NM_004629.2(FANCG):c.124T>C (p.Leu42=) rs775053536 0.00001
NM_004629.2(FANCG):c.1365C>G (p.Thr455=) rs767385265 0.00001
NM_004629.2(FANCG):c.1433+12G>A rs201070684 0.00001
NM_004629.2(FANCG):c.1818C>T (p.Asp606=) rs766524415 0.00001
NM_004629.2(FANCG):c.549T>C (p.Thr183=) rs1163330730 0.00001
NM_018062.4(FANCL):c.1093-19_1093-9dup rs771654902 0.00001
NM_018062.4(FANCL):c.525C>T (p.Ala175=) rs757892335 0.00001
NM_018062.4(FANCL):c.621C>T (p.Ile207=) rs374195602 0.00001
NM_018062.4(FANCL):c.903+10A>G rs779834767 0.00001
NM_021922.3(FANCE):c.1053T>G (p.Leu351=) rs755165473 0.00001
NM_021922.3(FANCE):c.1237+20C>G rs755688409 0.00001
NM_021922.3(FANCE):c.1384-14C>T rs558453150 0.00001
NM_021922.3(FANCE):c.324G>A (p.Ser108=) rs762826105 0.00001
NM_021922.3(FANCE):c.999C>T (p.Leu333=) rs776082827 0.00001
NM_024675.4(PALB2):c.1164T>C (p.Pro388=) rs1205215998 0.00001
NM_024675.4(PALB2):c.195G>A (p.Pro65=) rs751176316 0.00001
NM_024675.4(PALB2):c.2587-12C>T rs1266683395 0.00001
NM_024675.4(PALB2):c.2784G>A (p.Val928=) rs763411245 0.00001
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001
NM_024675.4(PALB2):c.2985A>T (p.Ala995=) rs786202892 0.00001
NM_024675.4(PALB2):c.3350+16T>G rs515726115 0.00001
NM_024675.4(PALB2):c.735G>A (p.Ala245=) rs371612049 0.00001
NM_032444.4(SLX4):c.1872C>T (p.Ser624=) rs767618166 0.00001
NM_032444.4(SLX4):c.2289T>C (p.Pro763=) rs1389488864 0.00001
NM_032444.4(SLX4):c.2724G>A (p.Pro908=) rs760071419 0.00001
NM_032444.4(SLX4):c.279C>G (p.Thr93=) rs543091261 0.00001
NM_032444.4(SLX4):c.3064C>T (p.Leu1022=) rs1391997347 0.00001
NM_032444.4(SLX4):c.3105C>T (p.Phe1035=) rs1313995893 0.00001
NM_032444.4(SLX4):c.3588T>C (p.Asp1196=) rs112016711 0.00001
NM_032444.4(SLX4):c.3634G>A (p.Ala1212Thr) rs574844562 0.00001
NM_032444.4(SLX4):c.3741G>A (p.Glu1247=) rs769032315 0.00001
NM_032444.4(SLX4):c.4824A>G (p.Ser1608=) rs767845523 0.00001
NM_032444.4(SLX4):c.5214G>A (p.Gly1738=) rs369714623 0.00001
NM_058216.3(RAD51C):c.537C>T (p.His179=) rs372385738 0.00001
NM_058216.3(RAD51C):c.79C>T (p.Leu27=) rs786201775 0.00001
NM_058216.3(RAD51C):c.904+16G>C rs929872458 0.00001
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=) rs370591460
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=) rs80359793
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=) rs786201328
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000082.4(ERCC8):c.390T>C (p.Asn130=) rs367632666
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1755C>T (p.Pro585=) rs144704750
NM_000135.4(FANCA):c.2015-4G>A rs373954227
NM_000135.4(FANCA):c.2127G>A (p.Pro709=) rs771226546
NM_000135.4(FANCA):c.2151+7G>A rs2039330078
NM_000135.4(FANCA):c.2286C>T (p.Leu762=) rs1419118181
NM_000135.4(FANCA):c.2496C>T (p.Phe832=) rs2039260982
NM_000135.4(FANCA):c.2504+12_2504+14del rs1023581563
NM_000135.4(FANCA):c.2602-18G>C rs774316884
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000135.4(FANCA):c.2779-5C>G rs753286882
NM_000135.4(FANCA):c.2853-4C>A rs1289126600
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=) rs1302242291
NM_000135.4(FANCA):c.3239+11C>G rs200232122
NM_000135.4(FANCA):c.3409-18C>T rs762166434
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=) rs776001484
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=) rs1382340096
NM_000135.4(FANCA):c.523-37TTGTTT[2] rs530849202
NM_000135.4(FANCA):c.558C>T (p.His186=) rs149159377
NM_000135.4(FANCA):c.710-20_710-19del rs2040524550
NM_000135.4(FANCA):c.924C>A (p.Gly308=) rs143255238
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1503C>T (p.Gly501=) rs2134454633
NM_000136.3(FANCC):c.843+12G>A rs2135164340
NM_000136.3(FANCC):c.896+14T>C rs2134966492
NM_000179.3(MSH6):c.3228C>T (p.Arg1076=) rs786203698
NM_000179.3(MSH6):c.3557-4dup rs267608102
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1990-17G>C rs1057521535
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000535.7(PMS2):c.2043G>A (p.Gln681=) rs876658953
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=) rs964099207
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018115.3(FANCD2):c.1614A>G (p.Thr538=) rs141824395
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=) rs151224882
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=) rs376956791
NM_001113378.2(FANCI):c.1699-17del rs746745862
NM_001113378.2(FANCI):c.3537+19C>G rs2054711237
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=) rs760364969
NM_001113378.2(FANCI):c.3652-10A>T rs202231175
NM_001113378.2(FANCI):c.3720+14A>G rs200012909
NM_001113378.2(FANCI):c.822C>T (p.His274=) rs2053064054
NM_001195248.2(APTX):c.484-13_484-12delinsTG rs1064794547
NM_002485.5(NBN):c.540C>T (p.Phe180=) rs1060504928
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_004629.2(FANCG):c.511-10_511-8del rs1384885358
NM_004629.2(FANCG):c.511-6dup rs376732298
NM_004629.2(FANCG):c.81C>T (p.Ala27=) rs1060504372
NM_004629.2(FANCG):c.957G>C (p.Pro319=) rs145092954
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=) rs376391395
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.3075A>C (p.Thr1025=) rs786201258
NM_007294.4(BRCA1):c.4185+11TG[5] rs273900723
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_018062.4(FANCL):c.472-15A>G rs374750427
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
NM_024675.4(PALB2):c.108+7_108+8delinsAT rs2142459585
NM_024675.4(PALB2):c.1482T>C (p.Thr494=) rs2142414557
NM_024675.4(PALB2):c.168T>C (p.Asp56=) rs1203135643
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.18G>A (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.212-24TA[4] rs751741705
NM_024675.4(PALB2):c.2424A>C (p.Gly808=) rs1060504714
NM_024675.4(PALB2):c.2834+13C>G rs551516577
NM_024675.4(PALB2):c.3204G>T (p.Gly1068=) rs786203475
NM_032043.3(BRIP1):c.2905+17C>A rs1458780264
NM_032043.3(BRIP1):c.3585G>A (p.Leu1195=) rs2061301182
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.1227G>A (p.Lys409=) rs534443134
NM_032444.4(SLX4):c.1683+9C>T rs1242929879
NM_032444.4(SLX4):c.3366G>A (p.Pro1122=) rs752209638
NM_032444.4(SLX4):c.420G>A (p.Glu140=) rs753015235
NM_058216.3(RAD51C):c.404+16C>T rs376465837
NM_058216.3(RAD51C):c.838-20C>G rs766600284
NM_058216.3(RAD51C):c.905-20A>G rs950351911

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.