ClinVar Miner

List of variants in gene FANCL reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_018062.4(FANCL):c.534A>G (p.Thr178=) rs151181785 0.00036
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_018062.4(FANCL):c.142C>G (p.Leu48Val) rs148516173 0.00018
NM_018062.4(FANCL):c.580A>G (p.Ile194Val) rs542006141 0.00018
NM_001114636.1(FANCL):c.-26T>A rs367703311 0.00014
NM_001114636.1(FANCL):c.-35C>T rs368688452 0.00012
NM_018062.4(FANCL):c.1088G>A (p.Ser363Asn) rs544425912 0.00011
NM_018062.4(FANCL):c.706A>G (p.Ile236Val) rs762904548 0.00011
NM_018062.4(FANCL):c.246C>G (p.Ser82Arg) rs374675609 0.00010
NM_018062.4(FANCL):c.649G>C (p.Glu217Gln) rs142110072 0.00010
NM_018062.4(FANCL):c.-3G>C rs766104531 0.00009
NM_018062.4(FANCL):c.238C>G (p.Leu80Val) rs563513081 0.00008
NM_018062.4(FANCL):c.273+7A>C rs745366278 0.00006
NM_018062.4(FANCL):c.288G>T (p.Lys96Asn) rs770368316 0.00006
NM_018062.4(FANCL):c.335C>T (p.Ser112Leu) rs756590256 0.00006
NM_018062.4(FANCL):c.4G>T (p.Ala2Ser) rs144057264 0.00006
NM_018062.4(FANCL):c.661C>T (p.Arg221Trp) rs772025061 0.00006
NM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs) rs750871999 0.00005
NM_018062.4(FANCL):c.343A>G (p.Ile115Val) rs149414332 0.00005
NM_018062.4(FANCL):c.1050G>T (p.Gln350His) rs760542163 0.00004
NM_018062.4(FANCL):c.1052G>A (p.Ser351Asn) rs145260146 0.00004
NM_018062.4(FANCL):c.208G>A (p.Val70Ile) rs758754024 0.00004
NM_018062.4(FANCL):c.392C>T (p.Thr131Ile) rs371154063 0.00004
NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp) rs201084086 0.00004
NM_018062.4(FANCL):c.622G>A (p.Asp208Asn) rs199564543 0.00004
NM_018062.4(FANCL):c.317C>T (p.Pro106Leu) rs771772034 0.00003
NM_018062.4(FANCL):c.883C>T (p.Arg295Cys) rs376528147 0.00003
NM_001114636.1(FANCL):c.-13C>T rs757714548 0.00002
NM_018062.4(FANCL):c.1024C>G (p.Leu342Val) rs140758986 0.00002
NM_018062.4(FANCL):c.428C>T (p.Ala143Val) rs756000370 0.00002
NM_018062.4(FANCL):c.500T>C (p.Val167Ala) rs1338440311 0.00002
NM_018062.4(FANCL):c.677G>A (p.Arg226His) rs745526326 0.00002
NM_018062.4(FANCL):c.810C>A (p.Asn270Lys) rs750050199 0.00002
NM_018062.4(FANCL):c.969G>A (p.Val323=) rs200819615 0.00002
NM_018062.4(FANCL):c.1065A>G (p.Ile355Met) rs147860433 0.00001
NM_018062.4(FANCL):c.1067T>G (p.Phe356Cys) rs773869051 0.00001
NM_018062.4(FANCL):c.121G>T (p.Val41Leu) rs763523035 0.00001
NM_018062.4(FANCL):c.155+4A>G rs1264877990 0.00001
NM_018062.4(FANCL):c.173A>G (p.Gln58Arg) rs1363031365 0.00001
NM_018062.4(FANCL):c.182C>G (p.Thr61Arg) rs1315405264 0.00001
NM_018062.4(FANCL):c.197A>G (p.Tyr66Cys) rs200306031 0.00001
NM_018062.4(FANCL):c.273+1G>C rs144729980 0.00001
NM_018062.4(FANCL):c.28C>G (p.Arg10Gly) rs146690827 0.00001
NM_018062.4(FANCL):c.308C>A (p.Ala103Glu) rs746623168 0.00001
NM_018062.4(FANCL):c.319C>T (p.Pro107Ser) rs754028115 0.00001
NM_018062.4(FANCL):c.332A>G (p.Tyr111Cys) rs757683704 0.00001
NM_018062.4(FANCL):c.344T>C (p.Ile115Thr) rs1060501895 0.00001
NM_018062.4(FANCL):c.354A>G (p.Ile118Met) rs1371125510 0.00001
NM_018062.4(FANCL):c.355G>A (p.Gly119Arg) rs764393410 0.00001
NM_018062.4(FANCL):c.372T>A (p.Asp124Glu) rs1032497636 0.00001
NM_018062.4(FANCL):c.386C>T (p.Ala129Val) rs771495568 0.00001
NM_018062.4(FANCL):c.394T>C (p.Cys132Arg) rs748298862 0.00001
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile) rs377429618 0.00001
NM_018062.4(FANCL):c.436A>G (p.Arg146Gly) rs369876807 0.00001
NM_018062.4(FANCL):c.44T>C (p.Leu15Pro) rs1694519859 0.00001
NM_018062.4(FANCL):c.472T>G (p.Tyr158Asp) rs749411866 0.00001
NM_018062.4(FANCL):c.488C>G (p.Pro163Arg) rs770063294 0.00001
NM_018062.4(FANCL):c.50C>G (p.Pro17Arg) rs773768206 0.00001
NM_018062.4(FANCL):c.541-3C>T rs759711454 0.00001
NM_018062.4(FANCL):c.554G>C (p.Ser185Thr) rs560205327 0.00001
NM_018062.4(FANCL):c.598T>A (p.Phe200Ile) rs199660431 0.00001
NM_018062.4(FANCL):c.611T>C (p.Met204Thr) rs368900762 0.00001
NM_018062.4(FANCL):c.640C>T (p.Leu214Phe) rs765926796 0.00001
NM_018062.4(FANCL):c.662G>A (p.Arg221Gln) rs761742545 0.00001
NM_018062.4(FANCL):c.679A>G (p.Arg227Gly) rs778068203 0.00001
NM_018062.4(FANCL):c.691+3A>G rs1159902512 0.00001
NM_018062.4(FANCL):c.692G>A (p.Gly231Asp) rs1558737546 0.00001
NM_018062.4(FANCL):c.742C>T (p.Leu248Phe) rs1202806362 0.00001
NM_018062.4(FANCL):c.775+3A>T rs975755966 0.00001
NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr) rs1685420223 0.00001
NM_018062.4(FANCL):c.860T>G (p.Val287Gly) rs61757387 0.00001
NM_018062.4(FANCL):c.881C>T (p.Ala294Val) rs756695293 0.00001
NM_018062.4(FANCL):c.884G>A (p.Arg295His) rs375526911 0.00001
NM_018062.4(FANCL):c.96+3A>T rs764782273 0.00001
NM_018062.4(FANCL):c.992A>C (p.Gln331Pro) rs746967598 0.00001
NM_001114636.1(FANCL):c.-34T>C rs374960980
NM_001114636.1(FANCL):c.-39A>C rs41281511
NM_001114636.1(FANCL):c.-40C>A rs199661008
NM_001114636.1(FANCL):c.-44C>T rs780348127
NM_018062.4(FANCL):c.1021T>A (p.Trp341Arg) rs1558727863
NM_018062.4(FANCL):c.1033CTA[1] (p.Leu346del)
NM_018062.4(FANCL):c.1042A>G (p.Ser348Gly)
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018062.4(FANCL):c.105C>A (p.Asp35Glu)
NM_018062.4(FANCL):c.1060A>G (p.Ile354Val)
NM_018062.4(FANCL):c.1078C>A (p.Pro360Thr) rs748875030
NM_018062.4(FANCL):c.1078C>G (p.Pro360Ala) rs748875030
NM_018062.4(FANCL):c.121G>A (p.Val41Met)
NM_018062.4(FANCL):c.134A>T (p.Asp45Val) rs1573820532
NM_018062.4(FANCL):c.136T>A (p.Leu46Ile) rs781357185
NM_018062.4(FANCL):c.136T>G (p.Leu46Val)
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_018062.4(FANCL):c.148delinsTT (p.Asn50fs)
NM_018062.4(FANCL):c.155G>A (p.Arg52Lys) rs1693636944
NM_018062.4(FANCL):c.156-3T>G
NM_018062.4(FANCL):c.159A>C (p.Leu53Phe)
NM_018062.4(FANCL):c.163T>A (p.Cys55Ser)
NM_018062.4(FANCL):c.167G>C (p.Ser56Thr) rs778972805
NM_018062.4(FANCL):c.181A>G (p.Thr61Ala)
NM_018062.4(FANCL):c.191G>A (p.Ser64Asn) rs1693400339
NM_018062.4(FANCL):c.200A>G (p.His67Arg)
NM_018062.4(FANCL):c.203G>A (p.Arg68Gln) rs143819820
NM_018062.4(FANCL):c.20G>A (p.Ser7Asn) rs376224867
NM_018062.4(FANCL):c.20G>C (p.Ser7Thr) rs376224867
NM_018062.4(FANCL):c.20G>T (p.Ser7Ile) rs376224867
NM_018062.4(FANCL):c.21C>G (p.Ser7Arg) rs200559825
NM_018062.4(FANCL):c.224A>G (p.Gln75Arg) rs754363760
NM_018062.4(FANCL):c.226C>T (p.His76Tyr) rs1693047999
NM_018062.4(FANCL):c.229T>C (p.Ser77Pro)
NM_018062.4(FANCL):c.22C>A (p.Leu8Met) rs764378405
NM_018062.4(FANCL):c.233C>G (p.Pro78Arg)
NM_018062.4(FANCL):c.241A>G (p.Met81Val) rs1440897827
NM_018062.4(FANCL):c.244A>C (p.Ser82Arg)
NM_018062.4(FANCL):c.252G>A (p.Met84Ile)
NM_018062.4(FANCL):c.259T>A (p.Leu87Met)
NM_018062.4(FANCL):c.267G>T (p.Met89Ile) rs1378650753
NM_018062.4(FANCL):c.274G>A (p.Glu92Lys) rs2103754665
NM_018062.4(FANCL):c.27G>C (p.Leu9Phe) rs370409722
NM_018062.4(FANCL):c.27G>T (p.Leu9Phe)
NM_018062.4(FANCL):c.280_281delinsTT (p.Ala94Phe)
NM_018062.4(FANCL):c.287A>G (p.Lys96Arg)
NM_018062.4(FANCL):c.295C>A (p.Gln99Lys) rs1196510455
NM_018062.4(FANCL):c.308C>T (p.Ala103Val) rs746623168
NM_018062.4(FANCL):c.319C>G (p.Pro107Ala) rs754028115
NM_018062.4(FANCL):c.339C>A (p.Ser113Arg) rs2103752897
NM_018062.4(FANCL):c.350A>C (p.Glu117Ala) rs2103752683
NM_018062.4(FANCL):c.35G>A (p.Cys12Tyr) rs2104082854
NM_018062.4(FANCL):c.35G>C (p.Cys12Ser)
NM_018062.4(FANCL):c.361C>T (p.Leu121Phe)
NM_018062.4(FANCL):c.365G>T (p.Gly122Val) rs2103752402
NM_018062.4(FANCL):c.374+3A>G rs999309828
NM_018062.4(FANCL):c.375-2033C>G rs1690571577
NM_018062.4(FANCL):c.378T>A (p.Leu126=) rs746200741
NM_018062.4(FANCL):c.385G>T (p.Ala129Ser)
NM_018062.4(FANCL):c.388G>T (p.Asp130Tyr) rs1690340999
NM_018062.4(FANCL):c.408C>G (p.Ile136Met) rs1389670408
NM_018062.4(FANCL):c.428C>G (p.Ala143Gly) rs756000370
NM_018062.4(FANCL):c.430T>A (p.Ser144Thr) rs2105147558
NM_018062.4(FANCL):c.439G>A (p.Glu147Lys)
NM_018062.4(FANCL):c.44T>A (p.Leu15His) rs1694519859
NM_018062.4(FANCL):c.454C>T (p.Leu152Phe)
NM_018062.4(FANCL):c.46C>A (p.Leu16Met)
NM_018062.4(FANCL):c.471+16A>G rs1026741275
NM_018062.4(FANCL):c.472-6T>A
NM_018062.4(FANCL):c.476C>T (p.Pro159Leu)
NM_018062.4(FANCL):c.478G>A (p.Ala160Thr) rs2105101201
NM_018062.4(FANCL):c.47T>G (p.Leu16Arg)
NM_018062.4(FANCL):c.494A>G (p.Tyr165Cys) rs2105100994
NM_018062.4(FANCL):c.4G>A (p.Ala2Thr)
NM_018062.4(FANCL):c.524C>T (p.Ala175Val) rs199966372
NM_018062.4(FANCL):c.526T>G (p.Ser176Ala)
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys) rs1689674094
NM_018062.4(FANCL):c.548TAA[1] (p.Ile184del) rs1573532439
NM_018062.4(FANCL):c.550A>G (p.Ile184Val) rs2104818711
NM_018062.4(FANCL):c.556A>G (p.Ile186Val) rs1685886480
NM_018062.4(FANCL):c.563G>C (p.Ser188Thr)
NM_018062.4(FANCL):c.56A>G (p.Asn19Ser)
NM_018062.4(FANCL):c.578C>T (p.Ala193Val) rs2104818267
NM_018062.4(FANCL):c.57C>G (p.Asn19Lys) rs1694517921
NM_018062.4(FANCL):c.594G>C (p.Lys198Asn)
NM_018062.4(FANCL):c.5C>T (p.Ala2Val) rs551142193
NM_018062.4(FANCL):c.608T>C (p.Val203Ala) rs1453411120
NM_018062.4(FANCL):c.608T>G (p.Val203Gly) rs1453411120
NM_018062.4(FANCL):c.612G>A (p.Met204Ile)
NM_018062.4(FANCL):c.614A>C (p.Asp205Ala)
NM_018062.4(FANCL):c.614A>G (p.Asp205Gly)
NM_018062.4(FANCL):c.625_627del (p.Glu209del) rs1348381378
NM_018062.4(FANCL):c.626A>G (p.Glu209Gly)
NM_018062.4(FANCL):c.62C>G (p.Ser21Trp)
NM_018062.4(FANCL):c.637G>C (p.Val213Leu) rs2104817334
NM_018062.4(FANCL):c.650A>G (p.Glu217Gly) rs1360050423
NM_018062.4(FANCL):c.659C>T (p.Pro220Leu)
NM_018062.4(FANCL):c.662G>T (p.Arg221Leu) rs761742545
NM_018062.4(FANCL):c.671C>A (p.Thr224Lys) rs779439089
NM_018062.4(FANCL):c.676C>T (p.Arg226Cys)
NM_018062.4(FANCL):c.677G>T (p.Arg226Leu)
NM_018062.4(FANCL):c.680G>C (p.Arg227Thr)
NM_018062.4(FANCL):c.68C>T (p.Thr23Ile)
NM_018062.4(FANCL):c.703T>C (p.Ser235Pro) rs1383696633
NM_018062.4(FANCL):c.719T>C (p.Val240Ala) rs1195674676
NM_018062.4(FANCL):c.730C>T (p.His244Tyr)
NM_018062.4(FANCL):c.736A>G (p.Thr246Ala)
NM_018062.4(FANCL):c.737C>T (p.Thr246Ile) rs2104800049
NM_018062.4(FANCL):c.750G>C (p.Glu250Asp)
NM_018062.4(FANCL):c.754T>C (p.Phe252Leu) rs780414432
NM_018062.4(FANCL):c.760C>T (p.Leu254Phe) rs1331385236
NM_018062.4(FANCL):c.763G>A (p.Gly255Arg) rs2104799685
NM_018062.4(FANCL):c.767C>G (p.Ala256Gly) rs781438290
NM_018062.4(FANCL):c.76G>C (p.Glu26Gln) rs1694515857
NM_018062.4(FANCL):c.775+10C>G rs751857451
NM_018062.4(FANCL):c.775+3A>G rs975755966
NM_018062.4(FANCL):c.775+6A>G
NM_018062.4(FANCL):c.776-10dup rs374236117
NM_018062.4(FANCL):c.776-13_776-10del rs374236117
NM_018062.4(FANCL):c.776-6C>G rs1359670933
NM_018062.4(FANCL):c.778G>C (p.Val260Leu) rs1573514956
NM_018062.4(FANCL):c.795T>C (p.Ile265=) rs1685442755
NM_018062.4(FANCL):c.801G>A (p.Leu267=)
NM_018062.4(FANCL):c.803G>A (p.Ser268Asn)
NM_018062.4(FANCL):c.805A>C (p.Arg269=)
NM_018062.4(FANCL):c.80G>T (p.Gly27Val)
NM_018062.4(FANCL):c.814C>G (p.His272Asp) rs1047208127
NM_018062.4(FANCL):c.842T>C (p.Leu281Ser) rs935920468
NM_018062.4(FANCL):c.845A>G (p.Gln282Arg) rs2104794990
NM_018062.4(FANCL):c.862T>A (p.Leu288Ile)
NM_018062.4(FANCL):c.863T>C (p.Leu288Ser) rs1573513610
NM_018062.4(FANCL):c.869T>C (p.Ile290Thr)
NM_018062.4(FANCL):c.89C>G (p.Ser30Trp) rs763615183
NM_018062.4(FANCL):c.902C>A (p.Ser301Tyr)
NM_018062.4(FANCL):c.902C>G (p.Ser301Cys) rs1405173705
NM_018062.4(FANCL):c.903+6T>A
NM_018062.4(FANCL):c.904-4G>T rs757211531
NM_018062.4(FANCL):c.904-9_904-7del rs757041554
NM_018062.4(FANCL):c.904-9del rs779011743
NM_018062.4(FANCL):c.908T>G (p.Phe303Cys)
NM_018062.4(FANCL):c.911C>T (p.Thr304Ile) rs746454771
NM_018062.4(FANCL):c.913A>G (p.Met305Val) rs553742734
NM_018062.4(FANCL):c.913A>T (p.Met305Leu) rs553742734
NM_018062.4(FANCL):c.914T>C (p.Met305Thr)
NM_018062.4(FANCL):c.923G>A (p.Gly308Glu) rs2104783676
NM_018062.4(FANCL):c.934G>T (p.Ala312Ser) rs2104783559
NM_018062.4(FANCL):c.942A>G (p.Gln314=) rs1163349462
NM_018062.4(FANCL):c.949G>A (p.Gly317Ser) rs1060501896
NM_018062.4(FANCL):c.953C>T (p.Thr318Ile)
NM_018062.4(FANCL):c.955A>C (p.Ile319Leu)
NM_018062.4(FANCL):c.96+4C>A rs1279339819
NM_018062.4(FANCL):c.96+6C>T rs544743506
NM_018062.4(FANCL):c.965A>G (p.Gln322Arg)
NM_018062.4(FANCL):c.967G>A (p.Val323Met) rs763057392
NM_018062.4(FANCL):c.967G>T (p.Val323Leu) rs763057392
NM_018062.4(FANCL):c.971G>C (p.Cys324Ser) rs1685176362
NM_018062.4(FANCL):c.974A>T (p.Asp325Val)
NM_018062.4(FANCL):c.984G>T (p.Gln328His)

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