ClinVar Miner

List of variants in gene FANCL reported as uncertain significance for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
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.238C>G (p.Leu80Val) rs563513081
NM_001114636.1(FANCL):c.246C>G (p.Ser82Arg)
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.4G>T (p.Ala2Ser) rs144057264
NM_001114636.1(FANCL):c.563_565TAA[1] (p.Ile189del)
NM_001114636.1(FANCL):c.637G>A (p.Asp213Asn) rs199564543

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