ClinVar Miner

List of variants in gene FANCL studied for DNA repair disease

Included ClinVar conditions (106):
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Total variants: 80
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HGVS dbSNP
FANCL, 3-BP DEL, 1007TAT
FANCL, 4-BP DUP, 1095AATT
NM_001114636.1(FANCL):c.-13C>T rs757714548
NM_001114636.1(FANCL):c.-26T>A
NM_001114636.1(FANCL):c.-34T>C
NM_001114636.1(FANCL):c.-35C>T
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.108C>G (p.Phe36Leu) rs149726602
NM_001114636.1(FANCL):c.112C>T (p.Leu38Phe) rs55849827
NM_001114636.1(FANCL):c.134A>T (p.Asp45Val) rs1573820532
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.203G>C (p.Arg68Pro) rs143819820
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) rs374675609
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) rs764393410
NM_001114636.1(FANCL):c.387G>A (p.Ala129=) rs141400460
NM_001114636.1(FANCL):c.394T>C (p.Cys132Arg) rs748298862
NM_001114636.1(FANCL):c.402T>C (p.Ser134=) rs145284589
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.534A>G (p.Thr178=) rs151181785
NM_001114636.1(FANCL):c.563_565TAA[1] (p.Ile189del) rs1573532439
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_001114636.1(FANCL):c.96+10C>T rs184741617
NM_018062.4(FANCL):c.20G>A (p.Ser7Asn)
NM_018062.4(FANCL):c.21C>G (p.Ser7Arg)
NM_018062.4(FANCL):c.226C>T (p.His76Tyr)
NM_018062.4(FANCL):c.267G>T (p.Met89Ile)
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327
NM_018062.4(FANCL):c.2T>G (p.Met1Arg)
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter)
NM_018062.4(FANCL):c.375-2033C>G
NM_018062.4(FANCL):c.378T>A (p.Leu126=)
NM_018062.4(FANCL):c.388G>T (p.Asp130Tyr)
NM_018062.4(FANCL):c.3G>A (p.Met1Ile)
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile)
NM_018062.4(FANCL):c.40del (p.Leu14fs)
NM_018062.4(FANCL):c.420A>G (p.Ala140=) rs1573699668
NM_018062.4(FANCL):c.436A>G (p.Arg146Gly)
NM_018062.4(FANCL):c.44T>C (p.Leu15Pro)
NM_018062.4(FANCL):c.472T>G (p.Tyr158Asp)
NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter)
NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp)
NM_018062.4(FANCL):c.524C>T (p.Ala175Val)
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys)
NM_018062.4(FANCL):c.546C>T (p.Ser182=) rs200679501
NM_018062.4(FANCL):c.580A>G (p.Ile194Val)
NM_018062.4(FANCL):c.5C>T (p.Ala2Val)
NM_018062.4(FANCL):c.621C>T (p.Ile207=) rs374195602
NM_018062.4(FANCL):c.649G>C (p.Glu217Gln)
NM_018062.4(FANCL):c.650A>G (p.Glu217Gly)
NM_018062.4(FANCL):c.661C>T (p.Arg221Trp)
NM_018062.4(FANCL):c.662G>A (p.Arg221Gln)
NM_018062.4(FANCL):c.677G>A (p.Arg226His)
NM_018062.4(FANCL):c.76G>C (p.Glu26Gln)
NM_018062.4(FANCL):c.89C>G (p.Ser30Trp)
NM_018062.4(FANCL):c.96+3A>T

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