List of variants in gene FANCL reported as likely benign for immune system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 267

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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.546C>T (p.Ser182=)	rs200679501	0.00032
NM_018062.4(FANCL):c.155+9G>C	rs370392756	0.00022
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.846A>G (p.Gln282=)	rs535158133	0.00010
NM_018062.4(FANCL):c.217-4C>A	rs369048526	0.00009
NM_018062.4(FANCL):c.273+7A>C	rs745366278	0.00006
NM_018062.4(FANCL):c.471+9C>G	rs376716140	0.00006
NM_018062.4(FANCL):c.261G>A (p.Leu87=)	rs1049409962	0.00005
NM_018062.4(FANCL):c.374+18_374+29del	rs775890254	0.00005
NM_018062.4(FANCL):c.155+7T>C	rs200849840	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_018062.4(FANCL):c.374+13T>C	rs776463455	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.948C>T (p.Asp316=)	rs1409256364	0.00003
NM_018062.4(FANCL):c.375-14C>G	rs1361463338	0.00002
NM_018062.4(FANCL):c.641T>C (p.Leu214Pro)	rs766618785	0.00002
NM_018062.4(FANCL):c.775+13A>C	rs764413990	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.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.129T>G (p.Pro43=)	rs746046267	0.00001
NM_018062.4(FANCL):c.18G>C (p.Ala6=)	rs759021953	0.00001
NM_018062.4(FANCL):c.36C>T (p.Cys12=)	rs756487177	0.00001
NM_018062.4(FANCL):c.381G>T (p.Val127=)	rs1198509820	0.00001
NM_018062.4(FANCL):c.39C>T (p.Pro13=)	rs201708705	0.00001
NM_018062.4(FANCL):c.471+11C>T	rs373493158	0.00001
NM_018062.4(FANCL):c.525C>T (p.Ala175=)	rs757892335	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.621C>T (p.Ile207=)	rs374195602	0.00001
NM_018062.4(FANCL):c.692-17A>G	rs1281803537	0.00001
NM_018062.4(FANCL):c.6G>A (p.Ala2=)	rs781559042	0.00001
NM_018062.4(FANCL):c.750G>A (p.Glu250=)	rs1337676826	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.879A>T (p.Pro293=)	rs1217731968	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.993A>G (p.Gln331=)	rs777378352	0.00001
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+17T>C
NM_018062.4(FANCL):c.1020+18T>C
NM_018062.4(FANCL):c.1020+20T>G
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.1021-7T>C
NM_018062.4(FANCL):c.102A>G (p.Arg34=)	rs759217429
NM_018062.4(FANCL):c.105C>T (p.Asp35=)
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.129T>C (p.Pro43=)
NM_018062.4(FANCL):c.12G>C (p.Thr4=)
NM_018062.4(FANCL):c.138A>G (p.Leu46=)
NM_018062.4(FANCL):c.141A>G (p.Gln47=)
NM_018062.4(FANCL):c.147G>A (p.Lys49=)
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.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.156-8A>C	rs878855045
NM_018062.4(FANCL):c.202C>A (p.Arg68=)
NM_018062.4(FANCL):c.210A>G (p.Val70=)
NM_018062.4(FANCL):c.213A>G (p.Gln71=)
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.234T>C (p.Pro78=)
NM_018062.4(FANCL):c.240A>C (p.Leu80=)
NM_018062.4(FANCL):c.24G>A (p.Leu8=)
NM_018062.4(FANCL):c.24G>T (p.Leu8=)
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.276A>G (p.Glu92=)
NM_018062.4(FANCL):c.27G>A (p.Leu9=)
NM_018062.4(FANCL):c.282C>T (p.Ala94=)
NM_018062.4(FANCL):c.291T>C (p.Asn97=)
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.324C>G (p.Pro108=)
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.345T>A (p.Ile115=)
NM_018062.4(FANCL):c.363T>C (p.Leu121=)
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+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>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.384T>C (p.Tyr128=)	rs1245585990
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.405C>G (p.Thr135=)
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.429T>C (p.Ala143=)
NM_018062.4(FANCL):c.435T>G (p.Gly145=)	rs2105147481
NM_018062.4(FANCL):c.450C>A (p.Ile150=)
NM_018062.4(FANCL):c.456C>G (p.Leu152=)
NM_018062.4(FANCL):c.46C>T (p.Leu16=)
NM_018062.4(FANCL):c.471+13T>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.480A>G (p.Ala160=)
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.528C>G (p.Ser176=)
NM_018062.4(FANCL):c.528C>T (p.Ser176=)	rs764969578
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.541-4A>G
NM_018062.4(FANCL):c.541-5C>T
NM_018062.4(FANCL):c.541-5del	rs1293206231
NM_018062.4(FANCL):c.543C>T (p.Ser181=)
NM_018062.4(FANCL):c.561T>C (p.Tyr187=)	rs1185627493
NM_018062.4(FANCL):c.57C>T (p.Asn19=)
NM_018062.4(FANCL):c.591A>G (p.Leu197=)	rs1320380833
NM_018062.4(FANCL):c.60G>A (p.Arg20=)
NM_018062.4(FANCL):c.624T>C (p.Asp208=)	rs2104817515
NM_018062.4(FANCL):c.642T>C (p.Leu214=)
NM_018062.4(FANCL):c.654A>G (p.Lys218=)
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.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.699T>C (p.Asn233=)
NM_018062.4(FANCL):c.702T>C (p.Val234=)
NM_018062.4(FANCL):c.705C>T (p.Ser235=)	rs1553435677
NM_018062.4(FANCL):c.726C>A (p.Pro242=)
NM_018062.4(FANCL):c.727A>C (p.Arg243=)	rs941555289
NM_018062.4(FANCL):c.75T>C (p.Tyr25=)
NM_018062.4(FANCL):c.768T>C (p.Ala256=)
NM_018062.4(FANCL):c.775+10C>T
NM_018062.4(FANCL):c.775+11T>G
NM_018062.4(FANCL):c.776-10del	rs374236117
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.786C>T (p.Pro262=)
NM_018062.4(FANCL):c.819G>A (p.Leu273=)
NM_018062.4(FANCL):c.81A>C (p.Gly27=)	rs1553459821
NM_018062.4(FANCL):c.822-12C>T
NM_018062.4(FANCL):c.822-13C>G
NM_018062.4(FANCL):c.822-4T>G	rs2104795280
NM_018062.4(FANCL):c.834T>C (p.Asn278=)
NM_018062.4(FANCL):c.846A>T (p.Gln282His)	rs535158133
NM_018062.4(FANCL):c.858T>C (p.Asp286=)
NM_018062.4(FANCL):c.873T>C (p.Asp291=)	rs773117904
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.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.904-20T>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.90G>T (p.Ser30=)
NM_018062.4(FANCL):c.921T>C (p.Cys307=)	rs959857056
NM_018062.4(FANCL):c.924A>T (p.Gly308=)
NM_018062.4(FANCL):c.933T>C (p.Tyr311=)
NM_018062.4(FANCL):c.936T>G (p.Ala312=)
NM_018062.4(FANCL):c.951T>G (p.Gly317=)
NM_018062.4(FANCL):c.954C>T (p.Thr318=)
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+8C>G
NM_018062.4(FANCL):c.96+8C>T
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

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