ClinVar Miner

List of variants reported as uncertain significance for Fanconi anemia complementation group L

Included ClinVar conditions (1):
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Total variants: 76
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HGVS dbSNP gnomAD frequency
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.142C>G (p.Leu48Val) rs148516173 0.00018
NM_018062.4(FANCL):c.580A>G (p.Ile194Val) rs542006141 0.00018
NM_001114636.1(FANCL):c.-26T>A rs367703311 0.00014
NM_001114636.1(FANCL):c.-35C>T rs368688452 0.00012
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.-3G>C rs766104531 0.00009
NM_018062.4(FANCL):c.238C>G (p.Leu80Val) rs563513081 0.00008
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.4G>T (p.Ala2Ser) rs144057264 0.00006
NM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs) rs750871999 0.00005
NM_006296.7(VRK2):c.1303G>A (p.Asp435Asn) rs201610023 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.*515A>C rs971589098 0.00003
NM_001114636.1(FANCL):c.-13C>T rs757714548 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.969G>A (p.Val323=) rs200819615 0.00002
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.308C>A (p.Ala103Glu) rs746623168 0.00001
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile) rs377429618 0.00001
NM_018062.4(FANCL):c.436A>G (p.Arg146Gly) rs369876807 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.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.692G>A (p.Gly231Asp) rs1558737546 0.00001
NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr) rs1685420223 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.992A>C (p.Gln331Pro) rs746967598 0.00001
NM_001114636.1(FANCL):c.-34T>C rs374960980
NM_001114636.1(FANCL):c.-39A>C rs41281511
NM_001114636.1(FANCL):c.-40C>A rs199661008
NM_001114636.1(FANCL):c.-44C>T rs780348127
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_018062.4(FANCL):c.*128G>A rs781556579
NM_018062.4(FANCL):c.*165A>C rs866675905
NM_018062.4(FANCL):c.*165A>G rs866675905
NM_018062.4(FANCL):c.*281C>G rs951671744
NM_018062.4(FANCL):c.*434A>G rs1395685917
NM_018062.4(FANCL):c.*89C>T rs1684780470
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_018062.4(FANCL):c.148delinsTT (p.Asn50fs)
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>T (p.Ser7Ile) rs376224867
NM_018062.4(FANCL):c.22C>A (p.Leu8Met) rs764378405
NM_018062.4(FANCL):c.241A>G (p.Met81Val) rs1440897827
NM_018062.4(FANCL):c.27G>C (p.Leu9Phe) rs370409722
NM_018062.4(FANCL):c.378T>A (p.Leu126=) rs746200741
NM_018062.4(FANCL):c.524C>T (p.Ala175Val) rs199966372
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys) rs1689674094
NM_018062.4(FANCL):c.548TAA[1] (p.Ile184del) rs1573532439
NM_018062.4(FANCL):c.56A>G (p.Asn19Ser)
NM_018062.4(FANCL):c.5C>T (p.Ala2Val) rs551142193
NM_018062.4(FANCL):c.730C>T (p.His244Tyr)
NM_018062.4(FANCL):c.76G>C (p.Glu26Gln) rs1694515857
NM_018062.4(FANCL):c.795T>C (p.Ile265=) rs1685442755
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.904-4G>T rs757211531
NM_018062.4(FANCL):c.913A>T (p.Met305Leu) rs553742734
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_018062.4(FANCL):c.949G>A (p.Gly317Ser) rs1060501896

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