ClinVar Miner

List of variants in gene FANCL reported by Genetic Services Laboratory, University of Chicago

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Total variants: 25
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HGVS dbSNP gnomAD frequency
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.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_018062.4(FANCL):c.534A>G (p.Thr178=) rs151181785 0.00036
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_018062.4(FANCL):c.387G>A (p.Ala129=) rs141400460 0.00016
NM_018062.4(FANCL):c.1021-6T>C rs377052216 0.00014
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu) rs149726602 0.00013
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.392C>T (p.Thr131Ile) rs371154063 0.00004
NM_018062.4(FANCL):c.472-1G>C rs768814501 0.00004
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys) rs139801716 0.00004
NM_018062.4(FANCL):c.-5G>C rs753605014 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_018062.4(FANCL):c.110A>T (p.His37Leu) rs1693641687
NM_018062.4(FANCL):c.235G>A (p.Asp79Asn) rs1553456024
NM_018062.4(FANCL):c.35G>A (p.Cys12Tyr) rs2104082854
NM_018062.4(FANCL):c.5C>T (p.Ala2Val) rs551142193
NM_018062.4(FANCL):c.712A>G (p.Ile238Val) rs776189946
NM_018062.4(FANCL):c.824A>T (p.Asp275Val) rs1685423554
NM_018062.4(FANCL):c.913A>G (p.Met305Val) rs553742734

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