ClinVar Miner

List of variants in gene FANCF reported as likely benign for Fanconi anemia

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_022725.4(FANCF):c.*1484G>A rs181285048 0.00843
NM_022725.4(FANCF):c.387C>T (p.Leu129=) rs45556032 0.00759
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn) rs61752920 0.00605
NM_022725.4(FANCF):c.199A>C (p.Arg67=) rs146647469 0.00325
NM_022725.4(FANCF):c.*709G>T rs140060318 0.00136
NM_022725.4(FANCF):c.672C>T (p.Pro224=) rs148955347 0.00049
NM_022725.4(FANCF):c.728G>A (p.Gly243Glu) rs150216454 0.00041
NM_022725.4(FANCF):c.687A>T (p.Ser229=) rs776140806 0.00021
NM_022725.4(FANCF):c.465A>T (p.Pro155=) rs201215734 0.00020
NM_022725.4(FANCF):c.21C>T (p.His7=) rs199867555 0.00019
NM_022725.4(FANCF):c.837A>G (p.Thr279=) rs183269887 0.00016
NM_022725.4(FANCF):c.350C>T (p.Pro117Leu) rs374572943 0.00010
NM_022725.4(FANCF):c.349C>A (p.Pro117Thr) rs372625322 0.00008
NM_022725.4(FANCF):c.372C>G (p.Ala124=) rs199705194 0.00005
NM_022725.4(FANCF):c.537G>A (p.Lys179=) rs772589448 0.00005
NM_022725.4(FANCF):c.873A>G (p.Lys291=) rs757578045 0.00005
NM_022725.4(FANCF):c.126C>T (p.Arg42=) rs764431374 0.00004
NM_022725.4(FANCF):c.360C>T (p.Gly120=) rs775422716 0.00004
NM_022725.4(FANCF):c.714C>T (p.Val238=) rs774956968 0.00004
NM_022725.4(FANCF):c.234G>A (p.Pro78=) rs144503236 0.00003
NM_022725.4(FANCF):c.279C>T (p.Leu93=) rs199578614 0.00002
NM_022725.4(FANCF):c.654C>G (p.Pro218=) rs779948183 0.00002
NM_022725.4(FANCF):c.13C>T (p.Leu5=) rs778821124 0.00001
NM_022725.4(FANCF):c.201G>A (p.Arg67=) rs765970178 0.00001
NM_022725.4(FANCF):c.210C>T (p.Gly70=) rs769740744 0.00001
NM_022725.4(FANCF):c.22C>T (p.Leu8=) rs1181623769 0.00001
NM_022725.4(FANCF):c.24G>C (p.Leu8=) rs1035401874 0.00001
NM_022725.4(FANCF):c.384A>C (p.Thr128=) rs200307118 0.00001
NM_022725.4(FANCF):c.640T>C (p.Leu214=) rs773556058 0.00001
NM_022725.4(FANCF):c.675C>T (p.Gly225=) rs767689033 0.00001
NM_022725.4(FANCF):c.699G>A (p.Gly233=) rs1565055031 0.00001
NM_022725.4(FANCF):c.729G>A (p.Gly243=) rs778844305 0.00001
NM_022725.4(FANCF):c.807G>A (p.Ala269=) rs754312601 0.00001
NM_022725.4(FANCF):c.84C>A (p.Pro28=) rs771462007 0.00001
NM_022725.4(FANCF):c.147T>G (p.Gly49=)
NM_022725.4(FANCF):c.156C>T (p.Gly52=)
NM_022725.4(FANCF):c.183G>A (p.Arg61=)
NM_022725.4(FANCF):c.184C>T (p.Leu62=) rs2133798493
NM_022725.4(FANCF):c.186G>T (p.Leu62=)
NM_022725.4(FANCF):c.192C>T (p.Asn64=)
NM_022725.4(FANCF):c.203A>G (p.Gln68Arg)
NM_022725.4(FANCF):c.204A>G (p.Gln68=)
NM_022725.4(FANCF):c.231T>C (p.Val77=)
NM_022725.4(FANCF):c.249C>T (p.Phe83=) rs1858633603
NM_022725.4(FANCF):c.24G>A (p.Leu8=) rs1035401874
NM_022725.4(FANCF):c.258C>A (p.Leu86=) rs146352365
NM_022725.4(FANCF):c.258C>T (p.Leu86=) rs146352365
NM_022725.4(FANCF):c.267T>C (p.Cys89=)
NM_022725.4(FANCF):c.276G>C (p.Leu92=) rs757554175
NM_022725.4(FANCF):c.291G>A (p.Leu97=)
NM_022725.4(FANCF):c.291G>C (p.Leu97=) rs1418187939
NM_022725.4(FANCF):c.292C>T (p.Leu98=)
NM_022725.4(FANCF):c.306C>T (p.Ala102=)
NM_022725.4(FANCF):c.309C>T (p.Leu103=)
NM_022725.4(FANCF):c.345C>A (p.Leu115=) rs749884571
NM_022725.4(FANCF):c.351C>T (p.Pro117=)
NM_022725.4(FANCF):c.36C>G (p.Ser12=) rs1353229536
NM_022725.4(FANCF):c.378G>A (p.Glu126=) rs1318651729
NM_022725.4(FANCF):c.412C>A (p.Arg138Ser) rs565372884
NM_022725.4(FANCF):c.420G>A (p.Arg140=)
NM_022725.4(FANCF):c.429G>A (p.Val143=)
NM_022725.4(FANCF):c.462C>T (p.Asn154=) rs2133797693
NM_022725.4(FANCF):c.471C>A (p.Leu157=) rs201136733
NM_022725.4(FANCF):c.501G>A (p.Ala167=)
NM_022725.4(FANCF):c.507G>A (p.Leu169=)
NM_022725.4(FANCF):c.51C>T (p.Val17=) rs2133798809
NM_022725.4(FANCF):c.555C>T (p.Pro185=) rs1156693900
NM_022725.4(FANCF):c.600C>T (p.Asn200=) rs143713546
NM_022725.4(FANCF):c.615A>T (p.Ile205=) rs1858624791
NM_022725.4(FANCF):c.618G>C (p.Ala206=) rs1056134185
NM_022725.4(FANCF):c.633G>A (p.Gln211=)
NM_022725.4(FANCF):c.636G>T (p.Pro212=) rs2133797243
NM_022725.4(FANCF):c.645T>A (p.Ser215=) rs2133797216
NM_022725.4(FANCF):c.654C>T (p.Pro218=)
NM_022725.4(FANCF):c.664T>C (p.Leu222=)
NM_022725.4(FANCF):c.69C>T (p.Val23=) rs987030810
NM_022725.4(FANCF):c.724C>T (p.Leu242=)
NM_022725.4(FANCF):c.750C>A (p.Ala250=)
NM_022725.4(FANCF):c.762C>A (p.Ala254=) rs1230699102
NM_022725.4(FANCF):c.765C>T (p.Leu255=)
NM_022725.4(FANCF):c.771C>G (p.Ala257=)
NM_022725.4(FANCF):c.771C>T (p.Ala257=)
NM_022725.4(FANCF):c.822T>C (p.Tyr274=)
NM_022725.4(FANCF):c.823C>T (p.Leu275=) rs1858619649
NM_022725.4(FANCF):c.849A>G (p.Gln283=) rs146848948
NM_022725.4(FANCF):c.861T>C (p.Tyr287=) rs1029853294
NM_022725.4(FANCF):c.864C>T (p.Asp288=)
NM_022725.4(FANCF):c.90C>A (p.Thr30=)
NM_022725.4(FANCF):c.90C>T (p.Thr30=) rs544395896
NM_022725.4(FANCF):c.96C>G (p.Arg32=) rs151253274
NM_022725.4(FANCF):c.9C>A (p.Ser3=)
NM_022725.4(FANCF):c.9C>T (p.Ser3=) rs1404225853

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