List of variants in gene FANCL studied for Fanconi anemia complementation group A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 570

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018062.4(FANCL):c.981T>C (p.Ser327=)	rs848291	0.69782
NM_018062.4(FANCL):c.1077T>C (p.Cys359=)	rs11539575	0.01385
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala)	rs149731356	0.00355
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe)	rs55849827	0.00322
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu)	rs140088149	0.00173
NM_018062.4(FANCL):c.817T>C (p.Leu273=)	rs61753272	0.00156
NM_018062.4(FANCL):c.402T>C (p.Ser134=)	rs145284589	0.00110
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.546C>T (p.Ser182=)	rs200679501	0.00032
NM_018062.4(FANCL):c.155+9G>C	rs370392756	0.00022
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.387G>A (p.Ala129=)	rs141400460	0.00016
NM_018062.4(FANCL):c.97-11A>G	rs201875132	0.00016
NM_018062.4(FANCL):c.1021-6T>C	rs377052216	0.00014
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu)	rs149726602	0.00013
NM_018062.4(FANCL):c.1020+15T>C	rs201733792	0.00011
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.846A>G (p.Gln282=)	rs535158133	0.00010
NM_018062.4(FANCL):c.217-4C>A	rs369048526	0.00009
NM_018062.4(FANCL):c.238C>G (p.Leu80Val)	rs563513081	0.00008
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)	rs779544327	0.00007
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.471+9C>G	rs376716140	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.261G>A (p.Leu87=)	rs1049409962	0.00005
NM_018062.4(FANCL):c.343A>G (p.Ile115Val)	rs149414332	0.00005
NM_018062.4(FANCL):c.374+18_374+29del	rs775890254	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.155+7T>C	rs200849840	0.00004
NM_018062.4(FANCL):c.208G>A (p.Val70Ile)	rs758754024	0.00004
NM_018062.4(FANCL):c.375-15T>C	rs767038810	0.00004
NM_018062.4(FANCL):c.392C>T (p.Thr131Ile)	rs371154063	0.00004
NM_018062.4(FANCL):c.472-1G>C	rs768814501	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.739A>G (p.Met247Val)	rs561027973	0.00004
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys)	rs139801716	0.00004
NM_018062.4(FANCL):c.317C>T (p.Pro106Leu)	rs771772034	0.00003
NM_018062.4(FANCL):c.374+13T>C	rs776463455	0.00003
NM_018062.4(FANCL):c.375-13C>T	rs761490451	0.00003
NM_018062.4(FANCL):c.375-6C>T	rs773848254	0.00003
NM_018062.4(FANCL):c.471+12G>A	rs369756342	0.00003
NM_018062.4(FANCL):c.822-13C>T	rs756047554	0.00003
NM_018062.4(FANCL):c.883C>T (p.Arg295Cys)	rs376528147	0.00003
NM_018062.4(FANCL):c.948C>T (p.Asp316=)	rs1409256364	0.00003
NM_018062.4(FANCL):c.1024C>G (p.Leu342Val)	rs140758986	0.00002
NM_018062.4(FANCL):c.1092G>A (p.Lys364=)	rs577063114	0.00002
NM_018062.4(FANCL):c.375-14C>G	rs1361463338	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.775+13A>C	rs764413990	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.1033C>T (p.Leu345=)	rs929280865	0.00001
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.1092+18C>A	rs373854636	0.00001
NM_018062.4(FANCL):c.1092+8A>G	rs1337458150	0.00001
NM_018062.4(FANCL):c.117G>A (p.Arg39=)	rs774840155	0.00001
NM_018062.4(FANCL):c.121G>T (p.Val41Leu)	rs763523035	0.00001
NM_018062.4(FANCL):c.129T>G (p.Pro43=)	rs746046267	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.18G>C (p.Ala6=)	rs759021953	0.00001
NM_018062.4(FANCL):c.197A>G (p.Tyr66Cys)	rs200306031	0.00001
NM_018062.4(FANCL):c.1A>T (p.Met1Leu)	rs772037896	0.00001
NM_018062.4(FANCL):c.216+1G>T	rs1205006300	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.2T>C (p.Met1Thr)	rs761291501	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.36C>T (p.Cys12=)	rs756487177	0.00001
NM_018062.4(FANCL):c.372T>A (p.Asp124Glu)	rs1032497636	0.00001
NM_018062.4(FANCL):c.381G>T (p.Val127=)	rs1198509820	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.39C>T (p.Pro13=)	rs201708705	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.471+11C>T	rs373493158	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.525C>T (p.Ala175=)	rs757892335	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.565C>T (p.Gln189Ter)	rs1191111879	0.00001
NM_018062.4(FANCL):c.588A>T (p.Ser196=)	rs1205526780	0.00001
NM_018062.4(FANCL):c.589C>T (p.Leu197=)	rs779745877	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.621C>T (p.Ile207=)	rs374195602	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.692-17A>G	rs1281803537	0.00001
NM_018062.4(FANCL):c.692-2A>G	rs1558737575	0.00001
NM_018062.4(FANCL):c.692G>A (p.Gly231Asp)	rs1558737546	0.00001
NM_018062.4(FANCL):c.6G>A (p.Ala2=)	rs781559042	0.00001
NM_018062.4(FANCL):c.742C>T (p.Leu248Phe)	rs1202806362	0.00001
NM_018062.4(FANCL):c.750G>A (p.Glu250=)	rs1337676826	0.00001
NM_018062.4(FANCL):c.775+3A>T	rs975755966	0.00001
NM_018062.4(FANCL):c.804C>T (p.Ser268=)	rs1327227877	0.00001
NM_018062.4(FANCL):c.822-15T>C	rs1282819073	0.00001
NM_018062.4(FANCL):c.860T>G (p.Val287Gly)	rs61757387	0.00001
NM_018062.4(FANCL):c.879A>T (p.Pro293=)	rs1217731968	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.894G>T (p.Leu298=)	rs373364584	0.00001
NM_018062.4(FANCL):c.903+10A>G	rs779834767	0.00001
NM_018062.4(FANCL):c.918T>C (p.Asp306=)	rs1060504376	0.00001
NM_018062.4(FANCL):c.96+10C>T	rs184741617	0.00001
NM_018062.4(FANCL):c.96+3A>T	rs764782273	0.00001
NM_018062.4(FANCL):c.993A>G (p.Gln331=)	rs777378352	0.00001
NC_000002.11:g.(?_58425719)_(58433394_?)del
NC_000002.11:g.(?_58459169)_(58468448_?)del
NC_000002.11:g.(?_58468333)_(58468448_?)del
NC_000002.12:g.58229869_58229884AAT[2]CTAAAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAATAATCTAAAATTTT[1]
NC_000002.12:g.58232113del
NM_018062.4(FANCL):c.1005A>G (p.Gln335=)	rs1158938280
NM_018062.4(FANCL):c.1014A>G (p.Leu338=)
NM_018062.4(FANCL):c.1017T>C (p.Tyr339=)
NM_018062.4(FANCL):c.1020+14A>G
NM_018062.4(FANCL):c.1020+14del
NM_018062.4(FANCL):c.1020+17T>C
NM_018062.4(FANCL):c.1020+18T>C
NM_018062.4(FANCL):c.1020+20T>G
NM_018062.4(FANCL):c.1020+8dup
NM_018062.4(FANCL):c.1020+9_1020+11del
NM_018062.4(FANCL):c.1021-16C>G
NM_018062.4(FANCL):c.1021-18A>C
NM_018062.4(FANCL):c.1021-18_1021-14dup
NM_018062.4(FANCL):c.1021-18_1021-15dup
NM_018062.4(FANCL):c.1021-22_1021-20del
NM_018062.4(FANCL):c.1021-23_1021-15del
NM_018062.4(FANCL):c.1021-2A>G
NM_018062.4(FANCL):c.1021-7T>C
NM_018062.4(FANCL):c.1021T>A (p.Trp341Arg)	rs1558727863
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
NM_018062.4(FANCL):c.102A>G (p.Arg34=)	rs759217429
NM_018062.4(FANCL):c.1033CTA[1] (p.Leu346del)
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
NM_018062.4(FANCL):c.1042A>G (p.Ser348Gly)
NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)
NM_018062.4(FANCL):c.1049dup (p.Ser351fs)
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs)	rs750871999
NM_018062.4(FANCL):c.105C>A (p.Asp35Glu)
NM_018062.4(FANCL):c.105C>T (p.Asp35=)
NM_018062.4(FANCL):c.1060A>G (p.Ile354Val)
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
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.1080A>G (p.Pro360=)
NM_018062.4(FANCL):c.1092+14T>G
NM_018062.4(FANCL):c.1092+15A>G
NM_018062.4(FANCL):c.1092+17T>C
NM_018062.4(FANCL):c.1092+18C>G
NM_018062.4(FANCL):c.1092+1_1092+5del	rs1558727300
NM_018062.4(FANCL):c.121G>A (p.Val41Met)
NM_018062.4(FANCL):c.129T>C (p.Pro43=)
NM_018062.4(FANCL):c.12G>C (p.Thr4=)
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.138A>G (p.Leu46=)
NM_018062.4(FANCL):c.13del (p.Glu5fs)
NM_018062.4(FANCL):c.141A>G (p.Gln47=)
NM_018062.4(FANCL):c.147G>A (p.Lys49=)
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr)	rs1558825558
NM_018062.4(FANCL):c.150T>C (p.Asn50=)
NM_018062.4(FANCL):c.153A>G (p.Ala51=)	rs2103919517
NM_018062.4(FANCL):c.155+18T>A	rs1573820307
NM_018062.4(FANCL):c.155+19A>T
NM_018062.4(FANCL):c.155+8G>A
NM_018062.4(FANCL):c.155G>A (p.Arg52Lys)	rs1693636944
NM_018062.4(FANCL):c.156-11T>A
NM_018062.4(FANCL):c.156-11T>C
NM_018062.4(FANCL):c.156-12T>C
NM_018062.4(FANCL):c.156-13A>C
NM_018062.4(FANCL):c.156-13A>T
NM_018062.4(FANCL):c.156-14C>T
NM_018062.4(FANCL):c.156-15T>C	rs2103886212
NM_018062.4(FANCL):c.156-16C>T
NM_018062.4(FANCL):c.156-3T>G
NM_018062.4(FANCL):c.156-8A>C	rs878855045
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.1A>C (p.Met1Leu)
NM_018062.4(FANCL):c.1A>G (p.Met1Val)	rs772037896
NM_018062.4(FANCL):c.200A>G (p.His67Arg)
NM_018062.4(FANCL):c.202C>A (p.Arg68=)
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)	rs1490932431
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.210A>G (p.Val70=)
NM_018062.4(FANCL):c.211C>T (p.Gln71Ter)	rs753105795
NM_018062.4(FANCL):c.213A>G (p.Gln71=)
NM_018062.4(FANCL):c.216+13del	rs1558823075
NM_018062.4(FANCL):c.216+14A>G
NM_018062.4(FANCL):c.216+17A>G
NM_018062.4(FANCL):c.216+7C>G
NM_018062.4(FANCL):c.216+8C>G
NM_018062.4(FANCL):c.216+9T>C
NM_018062.4(FANCL):c.217-2A>G
NM_018062.4(FANCL):c.21C>G (p.Ser7Arg)	rs200559825
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
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.231_232del (p.Ser77_Pro78insTer)
NM_018062.4(FANCL):c.233C>G (p.Pro78Arg)
NM_018062.4(FANCL):c.234T>C (p.Pro78=)
NM_018062.4(FANCL):c.235del (p.Asp79fs)
NM_018062.4(FANCL):c.240A>C (p.Leu80=)
NM_018062.4(FANCL):c.241A>G (p.Met81Val)	rs1440897827
NM_018062.4(FANCL):c.244A>C (p.Ser82Arg)
NM_018062.4(FANCL):c.24G>A (p.Leu8=)
NM_018062.4(FANCL):c.24G>T (p.Leu8=)
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.268del (p.Leu90fs)	rs869320684
NM_018062.4(FANCL):c.273+1G>A	rs144729980
NM_018062.4(FANCL):c.273+7A>T
NM_018062.4(FANCL):c.273+7dup
NM_018062.4(FANCL):c.274-11_274-9del	rs766344718
NM_018062.4(FANCL):c.274-14C>G
NM_018062.4(FANCL):c.274-19G>A
NM_018062.4(FANCL):c.274G>A (p.Glu92Lys)	rs2103754665
NM_018062.4(FANCL):c.276A>G (p.Glu92=)
NM_018062.4(FANCL):c.27G>A (p.Leu9=)
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.282C>T (p.Ala94=)
NM_018062.4(FANCL):c.287A>G (p.Lys96Arg)
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_018062.4(FANCL):c.291T>C (p.Asn97=)
NM_018062.4(FANCL):c.295C>A (p.Gln99Lys)	rs1196510455
NM_018062.4(FANCL):c.295C>T (p.Gln99Ter)	rs1196510455
NM_018062.4(FANCL):c.2T>G (p.Met1Arg)	rs761291501
NM_018062.4(FANCL):c.308C>T (p.Ala103Val)	rs746623168
NM_018062.4(FANCL):c.309A>G (p.Ala103=)
NM_018062.4(FANCL):c.30C>T (p.Arg10=)
NM_018062.4(FANCL):c.310C>T (p.Leu104=)	rs1225517747
NM_018062.4(FANCL):c.312A>G (p.Leu104=)
NM_018062.4(FANCL):c.318T>C (p.Pro106=)
NM_018062.4(FANCL):c.319C>G (p.Pro107Ala)	rs754028115
NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)
NM_018062.4(FANCL):c.320del (p.Pro107fs)
NM_018062.4(FANCL):c.324C>G (p.Pro108=)
NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)
NM_018062.4(FANCL):c.330C>T (p.Phe110=)
NM_018062.4(FANCL):c.333C>T (p.Tyr111=)
NM_018062.4(FANCL):c.336A>G (p.Ser112=)
NM_018062.4(FANCL):c.339C>A (p.Ser113Arg)	rs2103752897
NM_018062.4(FANCL):c.345T>A (p.Ile115=)
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.363T>C (p.Leu121=)
NM_018062.4(FANCL):c.365G>T (p.Gly122Val)	rs2103752402
NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter)	rs756487177
NM_018062.4(FANCL):c.374+13T>G
NM_018062.4(FANCL):c.374+16_374+20del
NM_018062.4(FANCL):c.374+19_374+20del	rs1692517175
NM_018062.4(FANCL):c.374+20T>A
NM_018062.4(FANCL):c.374+3A>G	rs999309828
NM_018062.4(FANCL):c.374+7C>T
NM_018062.4(FANCL):c.375-11C>T
NM_018062.4(FANCL):c.375-13_375-11del	rs759671554
NM_018062.4(FANCL):c.375-14C>T
NM_018062.4(FANCL):c.375-16C>T
NM_018062.4(FANCL):c.375-17T>G
NM_018062.4(FANCL):c.375-19A>C
NM_018062.4(FANCL):c.375-2033C>G	rs1690571577
NM_018062.4(FANCL):c.375-2033C>T
NM_018062.4(FANCL):c.375-20T>A
NM_018062.4(FANCL):c.375-5A>T	rs2105148555
NM_018062.4(FANCL):c.378T>A (p.Leu126=)	rs746200741
NM_018062.4(FANCL):c.378del (p.Val127fs)
NM_018062.4(FANCL):c.384T>C (p.Tyr128=)	rs1245585990
NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)
NM_018062.4(FANCL):c.385G>T (p.Ala129Ser)
NM_018062.4(FANCL):c.385_397del (p.Ala129fs)	rs2105148069
NM_018062.4(FANCL):c.388G>T (p.Asp130Tyr)	rs1690340999
NM_018062.4(FANCL):c.390T>C (p.Asp130=)
NM_018062.4(FANCL):c.39C>A (p.Pro13=)	rs201708705
NM_018062.4(FANCL):c.39C>G (p.Pro13=)	rs201708705
NM_018062.4(FANCL):c.3G>A (p.Met1Ile)	rs1694527909
NM_018062.4(FANCL):c.405C>G (p.Thr135=)
NM_018062.4(FANCL):c.408C>G (p.Ile136Met)	rs1389670408
NM_018062.4(FANCL):c.40del (p.Leu14fs)	rs761039364
NM_018062.4(FANCL):c.40dup (p.Leu14fs)	rs761039364
NM_018062.4(FANCL):c.417A>G (p.Lys139=)	rs1690337979
NM_018062.4(FANCL):c.420A>G (p.Ala140=)	rs1573699668
NM_018062.4(FANCL):c.426_438del (p.Asp142fs)	rs878855046
NM_018062.4(FANCL):c.428C>G (p.Ala143Gly)	rs756000370
NM_018062.4(FANCL):c.429T>C (p.Ala143=)
NM_018062.4(FANCL):c.430T>A (p.Ser144Thr)	rs2105147558
NM_018062.4(FANCL):c.430del (p.Ser144fs)	rs869320685
NM_018062.4(FANCL):c.435T>G (p.Gly145=)	rs2105147481
NM_018062.4(FANCL):c.439G>A (p.Glu147Lys)
NM_018062.4(FANCL):c.44T>A (p.Leu15His)	rs1694519859
NM_018062.4(FANCL):c.450C>A (p.Ile150=)
NM_018062.4(FANCL):c.454C>T (p.Leu152Phe)
NM_018062.4(FANCL):c.455_456del (p.Leu152fs)
NM_018062.4(FANCL):c.456C>G (p.Leu152=)
NM_018062.4(FANCL):c.46C>A (p.Leu16Met)
NM_018062.4(FANCL):c.46C>T (p.Leu16=)
NM_018062.4(FANCL):c.471+13T>C
NM_018062.4(FANCL):c.471+16A>G	rs1026741275
NM_018062.4(FANCL):c.471+1G>A
NM_018062.4(FANCL):c.471+2T>C
NM_018062.4(FANCL):c.472-11T>C
NM_018062.4(FANCL):c.472-14T>C	rs371196539
NM_018062.4(FANCL):c.472-15A>G	rs374750427
NM_018062.4(FANCL):c.472-15A>T	rs374750427
NM_018062.4(FANCL):c.472-18G>A
NM_018062.4(FANCL):c.472-5A>G
NM_018062.4(FANCL):c.472-6T>A
NM_018062.4(FANCL):c.472del (p.Tyr158fs)
NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter)	rs1689679880
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.480A>G (p.Ala160=)
NM_018062.4(FANCL):c.494A>G (p.Tyr165Cys)	rs2105100994
NM_018062.4(FANCL):c.4G>A (p.Ala2Thr)
NM_018062.4(FANCL):c.507T>C (p.Phe169=)	rs1423808735
NM_018062.4(FANCL):c.513T>C (p.Val171=)
NM_018062.4(FANCL):c.51C>G (p.Pro17=)	rs772700022
NM_018062.4(FANCL):c.51C>T (p.Pro17=)
NM_018062.4(FANCL):c.524C>T (p.Ala175Val)	rs199966372
NM_018062.4(FANCL):c.526T>G (p.Ser176Ala)
NM_018062.4(FANCL):c.528C>G (p.Ser176=)
NM_018062.4(FANCL):c.528C>T (p.Ser176=)	rs764969578
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys)	rs1689674094
NM_018062.4(FANCL):c.540+10_540+24del	rs770182004
NM_018062.4(FANCL):c.540+13C>T	rs1442784677
NM_018062.4(FANCL):c.540+16G>T
NM_018062.4(FANCL):c.540+18A>G
NM_018062.4(FANCL):c.541-10T>G
NM_018062.4(FANCL):c.541-11T>A	rs1458588728
NM_018062.4(FANCL):c.541-14C>A	rs765321485
NM_018062.4(FANCL):c.541-14C>T
NM_018062.4(FANCL):c.541-15T>C	rs1685890518
NM_018062.4(FANCL):c.541-15T>G
NM_018062.4(FANCL):c.541-18C>G
NM_018062.4(FANCL):c.541-2A>C
NM_018062.4(FANCL):c.541-4A>G
NM_018062.4(FANCL):c.541-5C>T
NM_018062.4(FANCL):c.541-5del	rs1293206231
NM_018062.4(FANCL):c.541-6dup	rs746526500
NM_018062.4(FANCL):c.543C>T (p.Ser181=)
NM_018062.4(FANCL):c.548T>A (p.Leu183Ter)
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.558_561dup (p.Ser188delinsLeuTer)
NM_018062.4(FANCL):c.561T>C (p.Tyr187=)	rs1185627493
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.57C>T (p.Asn19=)
NM_018062.4(FANCL):c.591A>G (p.Leu197=)	rs1320380833
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.60G>A (p.Arg20=)
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.616G>T (p.Glu206Ter)
NM_018062.4(FANCL):c.624T>C (p.Asp208=)	rs2104817515
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>A (p.Ser21Ter)
NM_018062.4(FANCL):c.62C>G (p.Ser21Trp)
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
NM_018062.4(FANCL):c.637G>C (p.Val213Leu)	rs2104817334
NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)
NM_018062.4(FANCL):c.642T>C (p.Leu214=)
NM_018062.4(FANCL):c.650A>G (p.Glu217Gly)	rs1360050423
NM_018062.4(FANCL):c.654A>G (p.Lys218=)
NM_018062.4(FANCL):c.659C>T (p.Pro220Leu)
NM_018062.4(FANCL):c.659del (p.Pro220fs)
NM_018062.4(FANCL):c.662G>T (p.Arg221Leu)	rs761742545
NM_018062.4(FANCL):c.663G>C (p.Arg221=)
NM_018062.4(FANCL):c.663G>T (p.Arg221=)
NM_018062.4(FANCL):c.666T>C (p.Ser222=)
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.682del (p.Ile228fs)
NM_018062.4(FANCL):c.68C>T (p.Thr23Ile)
NM_018062.4(FANCL):c.691+8C>T	rs1327876704
NM_018062.4(FANCL):c.691+9A>G
NM_018062.4(FANCL):c.692-11T>C
NM_018062.4(FANCL):c.692-15C>A
NM_018062.4(FANCL):c.692-15C>G	rs370449029
NM_018062.4(FANCL):c.692-18A>C
NM_018062.4(FANCL):c.692-4C>A
NM_018062.4(FANCL):c.692-4C>G
NM_018062.4(FANCL):c.692-6T>C	rs1685523497
NM_018062.4(FANCL):c.693T>C (p.Gly231=)
NM_018062.4(FANCL):c.693T>G (p.Gly231=)	rs864622189
NM_018062.4(FANCL):c.694AAT[1] (p.Asn233del)	rs549637282
NM_018062.4(FANCL):c.699T>C (p.Asn233=)
NM_018062.4(FANCL):c.702T>C (p.Val234=)
NM_018062.4(FANCL):c.703T>C (p.Ser235Pro)	rs1383696633
NM_018062.4(FANCL):c.705C>T (p.Ser235=)	rs1553435677
NM_018062.4(FANCL):c.719T>C (p.Val240Ala)	rs1195674676
NM_018062.4(FANCL):c.726C>A (p.Pro242=)
NM_018062.4(FANCL):c.727A>C (p.Arg243=)	rs941555289
NM_018062.4(FANCL):c.736A>G (p.Thr246Ala)
NM_018062.4(FANCL):c.737C>T (p.Thr246Ile)	rs2104800049
NM_018062.4(FANCL):c.739_740dup (p.Met247fs)	rs1685514075
NM_018062.4(FANCL):c.750G>C (p.Glu250Asp)
NM_018062.4(FANCL):c.754T>C (p.Phe252Leu)	rs780414432
NM_018062.4(FANCL):c.759_762del (p.Phe253fs)	rs1553435610
NM_018062.4(FANCL):c.75T>C (p.Tyr25=)
NM_018062.4(FANCL):c.760C>T (p.Leu254Phe)	rs1331385236
NM_018062.4(FANCL):c.761_771del (p.Leu254fs)	rs2104799592
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.768T>C (p.Ala256=)
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+10C>T
NM_018062.4(FANCL):c.775+11T>G
NM_018062.4(FANCL):c.775+2T>C
NM_018062.4(FANCL):c.775+3A>G	rs975755966
NM_018062.4(FANCL):c.775+6A>G
NM_018062.4(FANCL):c.776-10del	rs374236117
NM_018062.4(FANCL):c.776-10dup	rs374236117
NM_018062.4(FANCL):c.776-11_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.776-8A>T	rs753745302
NM_018062.4(FANCL):c.776-8dup
NM_018062.4(FANCL):c.776-9A>T	rs1685446346
NM_018062.4(FANCL):c.778G>C (p.Val260Leu)	rs1573514956
NM_018062.4(FANCL):c.786C>T (p.Pro262=)
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.813_816del (p.His272fs)	rs1558735946
NM_018062.4(FANCL):c.814C>G (p.His272Asp)	rs1047208127
NM_018062.4(FANCL):c.819G>A (p.Leu273=)
NM_018062.4(FANCL):c.81A>C (p.Gly27=)	rs1553459821
NM_018062.4(FANCL):c.821+1G>A
NM_018062.4(FANCL):c.822-12C>T
NM_018062.4(FANCL):c.822-13C>G
NM_018062.4(FANCL):c.822-15dup	rs570217357
NM_018062.4(FANCL):c.822-4T>G	rs2104795280
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
NM_018062.4(FANCL):c.834T>C (p.Asn278=)
NM_018062.4(FANCL):c.842T>C (p.Leu281Ser)	rs935920468
NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)
NM_018062.4(FANCL):c.845A>G (p.Gln282Arg)	rs2104794990
NM_018062.4(FANCL):c.846A>T (p.Gln282His)	rs535158133
NM_018062.4(FANCL):c.858T>C (p.Asp286=)
NM_018062.4(FANCL):c.862T>A (p.Leu288Ile)
NM_018062.4(FANCL):c.863T>C (p.Leu288Ser)	rs1573513610
NM_018062.4(FANCL):c.863del (p.Val287_Leu288insTer)
NM_018062.4(FANCL):c.869T>C (p.Ile290Thr)
NM_018062.4(FANCL):c.873T>C (p.Asp291=)	rs773117904
NM_018062.4(FANCL):c.885_886insA (p.Ala296fs)
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
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+12C>T
NM_018062.4(FANCL):c.903+14G>A
NM_018062.4(FANCL):c.903+14G>T
NM_018062.4(FANCL):c.903+16_903+17del
NM_018062.4(FANCL):c.903+17T>A
NM_018062.4(FANCL):c.903+1G>T
NM_018062.4(FANCL):c.903+1_903+2del
NM_018062.4(FANCL):c.903+1del
NM_018062.4(FANCL):c.903+6T>A
NM_018062.4(FANCL):c.904-14T>C
NM_018062.4(FANCL):c.904-18_904-15del
NM_018062.4(FANCL):c.904-19A>G
NM_018062.4(FANCL):c.904-1G>A	rs2104783888
NM_018062.4(FANCL):c.904-20T>A
NM_018062.4(FANCL):c.904-4G>C
NM_018062.4(FANCL):c.904-4G>T	rs757211531
NM_018062.4(FANCL):c.904-7T>G	rs2104783967
NM_018062.4(FANCL):c.904-8T>G	rs2104784017
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.90G>T (p.Ser30=)
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.921T>C (p.Cys307=)	rs959857056
NM_018062.4(FANCL):c.923G>A (p.Gly308Glu)	rs2104783676
NM_018062.4(FANCL):c.924A>T (p.Gly308=)
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter)	rs529201454
NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter)	rs1423411761
NM_018062.4(FANCL):c.933T>C (p.Tyr311=)
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
NM_018062.4(FANCL):c.934G>T (p.Ala312Ser)	rs2104783559
NM_018062.4(FANCL):c.936T>G (p.Ala312=)
NM_018062.4(FANCL):c.93T>C (p.Ala31=)	rs563039004
NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)
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.951T>G (p.Gly317=)
NM_018062.4(FANCL):c.953C>T (p.Thr318Ile)
NM_018062.4(FANCL):c.954C>T (p.Thr318=)
NM_018062.4(FANCL):c.955A>C (p.Ile319Leu)
NM_018062.4(FANCL):c.96+11A>G
NM_018062.4(FANCL):c.96+12G>A
NM_018062.4(FANCL):c.96+12G>C
NM_018062.4(FANCL):c.96+14G>A
NM_018062.4(FANCL):c.96+14_96+15inv
NM_018062.4(FANCL):c.96+15G>A
NM_018062.4(FANCL):c.96+18G>A
NM_018062.4(FANCL):c.96+2T>A
NM_018062.4(FANCL):c.96+2T>C
NM_018062.4(FANCL):c.96+4C>A	rs1279339819
NM_018062.4(FANCL):c.96+6C>T	rs544743506
NM_018062.4(FANCL):c.96+8C>G
NM_018062.4(FANCL):c.96+8C>T
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.97-13A>T
NM_018062.4(FANCL):c.97-14A>C
NM_018062.4(FANCL):c.97-14A>G
NM_018062.4(FANCL):c.97-15C>T	rs2103921401
NM_018062.4(FANCL):c.97-15_97-11del
NM_018062.4(FANCL):c.97-20C>G
NM_018062.4(FANCL):c.97-4A>T	rs2103921076
NM_018062.4(FANCL):c.97-7T>C
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.