ClinVar Miner

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

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327 0.00007
NM_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_018062.4(FANCL):c.1A>T (p.Met1Leu) rs772037896 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_018062.4(FANCL):c.565C>T (p.Gln189Ter) rs1191111879 0.00001
NC_000002.11:g.(?_58425719)_(58433394_?)del
NC_000002.11:g.(?_58459169)_(58468448_?)del
NC_000002.11:g.(?_58468333)_(58468448_?)del
NC_000002.12:g.58229869_58229884AAT[2]CTAAAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAATAATCTAAAATTTT[1]
NC_000002.12:g.58232113del
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
NM_018062.4(FANCL):c.13del (p.Glu5fs)
NM_018062.4(FANCL):c.1A>C (p.Met1Leu)
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter) rs1490932431
NM_018062.4(FANCL):c.211C>T (p.Gln71Ter) rs753105795
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.231_232del (p.Ser77_Pro78insTer)
NM_018062.4(FANCL):c.235del (p.Asp79fs)
NM_018062.4(FANCL):c.268del (p.Leu90fs) rs869320684
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_018062.4(FANCL):c.295C>T (p.Gln99Ter) rs1196510455
NM_018062.4(FANCL):c.2T>G (p.Met1Arg) rs761291501
NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)
NM_018062.4(FANCL):c.320del (p.Pro107fs)
NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)
NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter) rs756487177
NM_018062.4(FANCL):c.378del (p.Val127fs)
NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)
NM_018062.4(FANCL):c.385_397del (p.Ala129fs) rs2105148069
NM_018062.4(FANCL):c.3G>A (p.Met1Ile) rs1694527909
NM_018062.4(FANCL):c.40del (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.40dup (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.426_438del (p.Asp142fs) rs878855046
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018062.4(FANCL):c.455_456del (p.Leu152fs)
NM_018062.4(FANCL):c.472del (p.Tyr158fs)
NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter) rs1689679880
NM_018062.4(FANCL):c.548T>A (p.Leu183Ter)
NM_018062.4(FANCL):c.558_561dup (p.Ser188delinsLeuTer)
NM_018062.4(FANCL):c.616G>T (p.Glu206Ter)
NM_018062.4(FANCL):c.62C>A (p.Ser21Ter)
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)
NM_018062.4(FANCL):c.659del (p.Pro220fs)
NM_018062.4(FANCL):c.682del (p.Ile228fs)
NM_018062.4(FANCL):c.739_740dup (p.Met247fs) rs1685514075
NM_018062.4(FANCL):c.759_762del (p.Phe253fs) rs1553435610
NM_018062.4(FANCL):c.813_816del (p.His272fs) rs1558735946
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)
NM_018062.4(FANCL):c.863del (p.Val287_Leu288insTer)
NM_018062.4(FANCL):c.885_886insA (p.Ala296fs)
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter) rs1423411761
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)

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