ClinVar Miner

List of variants in gene FANCL reported as uncertain significance for Fanconi anemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 209
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
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_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.238C>G (p.Leu80Val) rs563513081 0.00008
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.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_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.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.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.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.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.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.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.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.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.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.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.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.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.904-9_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)

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.