ClinVar Miner

List of variants in gene FANCL reported as benign for Fanconi anemia

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_018062.4(FANCL):c.375-49C>G rs1404459 0.14499
NM_018062.4(FANCL):c.217-11T>C rs79588315 0.06493
NM_018062.4(FANCL):c.1077T>C (p.Cys359=) rs11539575 0.01385
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.108C>G (p.Phe36Leu) rs149726602 0.00013
NM_018062.4(FANCL):c.375-15T>C rs767038810 0.00004
NM_018062.4(FANCL):c.739A>G (p.Met247Val) rs561027973 0.00004
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys) rs139801716 0.00004
NM_018062.4(FANCL):c.375-13C>T rs761490451 0.00003
NM_001114636.1(FANCL):c.-39A>G rs41281511
NM_018062.4(FANCL):c.1020+14del
NM_018062.4(FANCL):c.1020+8dup
NM_018062.4(FANCL):c.216+13del rs1558823075
NM_018062.4(FANCL):c.273+19dup rs372101290
NM_018062.4(FANCL):c.541-6dup rs746526500
NM_018062.4(FANCL):c.694AAT[1] (p.Asn233del) rs549637282
NM_018062.4(FANCL):c.776-10del rs374236117
NM_018062.4(FANCL):c.776-10dup rs374236117
NM_018062.4(FANCL):c.776-11_776-10dup rs374236117
NM_018062.4(FANCL):c.822-15dup rs570217357
NM_018062.4(FANCL):c.93T>C (p.Ala31=) rs563039004

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