ClinVar Miner

List of variants in gene FANCL studied for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
FANCL, 3-BP DEL, 1007TAT
FANCL, 4-BP DUP, 1095AATT
NC_000002.12:g.58160152_58160155del
NC_000002.12:g.58163470dup
NM_001114636.1(FANCL):c.-13C>T rs757714548
NM_001114636.1(FANCL):c.-39A>C rs41281511
NM_001114636.1(FANCL):c.-39A>G rs41281511
NM_001114636.1(FANCL):c.-40C>A rs199661008
NM_001114636.1(FANCL):c.-44C>T rs780348127
NM_001114636.1(FANCL):c.134A>T (p.Asp45Val)
NM_001114636.1(FANCL):c.142C>G (p.Leu48Val) rs148516173
NM_001114636.1(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_001114636.1(FANCL):c.182C>G (p.Thr61Arg) rs1315405264
NM_001114636.1(FANCL):c.211C>T (p.Gln71Ter) rs753105795
NM_001114636.1(FANCL):c.216+1G>T rs1205006300
NM_001114636.1(FANCL):c.217-11T>C rs79588315
NM_001114636.1(FANCL):c.238C>G (p.Leu80Val) rs563513081
NM_001114636.1(FANCL):c.246C>G (p.Ser82Arg)
NM_001114636.1(FANCL):c.268del (p.Leu90fs) rs869320684
NM_001114636.1(FANCL):c.273+1G>A rs144729980
NM_001114636.1(FANCL):c.273+7A>C rs745366278
NM_001114636.1(FANCL):c.288G>T (p.Lys96Asn) rs770368316
NM_001114636.1(FANCL):c.2T>C (p.Met1Thr) rs761291501
NM_001114636.1(FANCL):c.319C>G (p.Pro107Ala) rs754028115
NM_001114636.1(FANCL):c.332A>G (p.Tyr111Cys) rs757683704
NM_001114636.1(FANCL):c.335C>T (p.Ser112Leu) rs756590256
NM_001114636.1(FANCL):c.343A>G (p.Ile115Val) rs149414332
NM_001114636.1(FANCL):c.344T>C (p.Ile115Thr) rs1060501895
NM_001114636.1(FANCL):c.355G>A (p.Gly119Arg)
NM_001114636.1(FANCL):c.394T>C (p.Cys132Arg)
NM_001114636.1(FANCL):c.40dup (p.Leu14fs) rs761039364
NM_001114636.1(FANCL):c.426_438del (p.Asp142fs) rs878855046
NM_001114636.1(FANCL):c.430del (p.Ser144fs) rs869320685
NM_001114636.1(FANCL):c.4G>T (p.Ala2Ser) rs144057264
NM_001114636.1(FANCL):c.51C>G (p.Pro17=) rs772700022
NM_001114636.1(FANCL):c.563_565TAA[1] (p.Ile189del)
NM_001114636.1(FANCL):c.637G>A (p.Asp213Asn) rs199564543
NM_001114636.1(FANCL):c.685A>G (p.Thr229Ala) rs149731356
NM_001114636.1(FANCL):c.81A>C (p.Gly27=) rs1553459821
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)

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.