ClinVar Miner

List of variants in gene FANCF reported as uncertain significance for anemia

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_022725.4(FANCF):c.*1879T>C rs45553340 0.00575
NM_022725.4(FANCF):c.*708C>T rs61889392 0.00321
NM_022725.4(FANCF):c.*1440A>G rs191742011 0.00155
NM_022725.4(FANCF):c.385C>G (p.Leu129Val) rs61753271 0.00051
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser) rs145057187 0.00048
NM_022725.4(FANCF):c.633G>T (p.Gln211His) rs146975768 0.00045
NM_022725.4(FANCF):c.728G>A (p.Gly243Glu) rs150216454 0.00041
NM_022725.4(FANCF):c.637C>T (p.Pro213Ser) rs201382399 0.00039
NM_022725.4(FANCF):c.91G>A (p.Val31Met) rs11556562 0.00034
NM_022725.4(FANCF):c.*1094A>G rs544116147 0.00031
NM_022725.3(FANCF):c.-31T>C rs202069513 0.00026
NM_022725.4(FANCF):c.153T>A (p.His51Gln) rs142247452 0.00024
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg) rs146219377 0.00024
NM_022725.4(FANCF):c.647G>C (p.Arg216Pro) rs192534185 0.00022
NM_022725.4(FANCF):c.465A>T (p.Pro155=) rs201215734 0.00020
NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe) rs952309844 0.00017
NM_022725.4(FANCF):c.*2074A>G rs576419372 0.00013
NM_022725.4(FANCF):c.*1630G>A rs559054290 0.00012
NM_022725.4(FANCF):c.*1420A>G rs414664 0.00011
NM_022725.4(FANCF):c.350C>T (p.Pro117Leu) rs374572943 0.00010
NM_022725.4(FANCF):c.*1512A>G rs571200561 0.00009
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys) rs750623273 0.00009
NM_022725.4(FANCF):c.*336C>A rs750128615 0.00008
NM_022725.4(FANCF):c.617C>T (p.Ala206Val) rs756213451 0.00007
NM_022725.4(FANCF):c.*1535T>A rs886048151 0.00006
NM_022725.4(FANCF):c.404G>T (p.Arg135Leu) rs759515146 0.00006
NM_022725.4(FANCF):c.*499T>C rs566136504 0.00005
NM_022725.4(FANCF):c.*1119T>A rs558392453 0.00004
NM_022725.4(FANCF):c.*412T>A rs1310827545 0.00004
NM_022725.4(FANCF):c.446A>G (p.Asn149Ser) rs377309460 0.00004
NM_022725.4(FANCF):c.559A>G (p.Arg187Gly) rs540547787 0.00004
NM_022725.4(FANCF):c.796C>T (p.Arg266Cys) rs145666363 0.00004
NM_022725.3(FANCF):c.-21A>G rs751857151 0.00003
NM_022725.4(FANCF):c.*1884T>C rs760103091 0.00003
NM_022725.4(FANCF):c.*2071A>G rs886048148 0.00003
NM_022725.4(FANCF):c.*597G>A rs373336301 0.00003
NM_022725.4(FANCF):c.*7C>G rs770964562 0.00003
NM_022725.4(FANCF):c.101C>T (p.Ala34Val) rs780228540 0.00003
NM_022725.4(FANCF):c.149G>C (p.Arg50Pro) rs371420932 0.00003
NM_022725.4(FANCF):c.302G>C (p.Arg101Pro) rs1423734778 0.00003
NM_022725.4(FANCF):c.364C>G (p.Arg122Gly) rs759470099 0.00003
NM_022725.4(FANCF):c.37G>A (p.Glu13Lys) rs766362210 0.00003
NM_022725.4(FANCF):c.67G>T (p.Val23Phe) rs777143902 0.00003
NM_022725.4(FANCF):c.785T>C (p.Leu262Ser) rs368067979 0.00003
NM_022725.4(FANCF):c.*555T>C rs1306529494 0.00002
NM_022725.4(FANCF):c.134A>G (p.His45Arg) rs767088554 0.00002
NM_022725.4(FANCF):c.268G>A (p.Asp90Asn) rs370200638 0.00002
NM_022725.4(FANCF):c.279C>T (p.Leu93=) rs199578614 0.00002
NM_022725.4(FANCF):c.58A>G (p.Thr20Ala) rs1328802237 0.00002
NM_022725.4(FANCF):c.701G>A (p.Ser234Asn) rs373273222 0.00002
NM_022725.4(FANCF):c.772G>A (p.Gly258Arg) rs754977013 0.00002
NM_022725.4(FANCF):c.*1190C>A rs750376328 0.00001
NM_022725.4(FANCF):c.*1632G>C rs886048150 0.00001
NM_022725.4(FANCF):c.*328C>T rs964106425 0.00001
NM_022725.4(FANCF):c.*565A>G rs886048155 0.00001
NM_022725.4(FANCF):c.*782A>G rs949488113 0.00001
NM_022725.4(FANCF):c.1114A>G (p.Ser372Gly) rs760590516 0.00001
NM_022725.4(FANCF):c.116G>A (p.Arg39His) rs778953394 0.00001
NM_022725.4(FANCF):c.128A>C (p.His43Pro) rs761221734 0.00001
NM_022725.4(FANCF):c.133C>T (p.His45Tyr) rs753116878 0.00001
NM_022725.4(FANCF):c.14T>C (p.Leu5Pro) rs1159900858 0.00001
NM_022725.4(FANCF):c.166A>G (p.Thr56Ala) rs772736775 0.00001
NM_022725.4(FANCF):c.182G>T (p.Arg61Leu) rs779046357 0.00001
NM_022725.4(FANCF):c.189C>G (p.His63Gln) rs1014150752 0.00001
NM_022725.4(FANCF):c.19C>G (p.His7Asp) rs749273752 0.00001
NM_022725.4(FANCF):c.210C>T (p.Gly70=) rs769740744 0.00001
NM_022725.4(FANCF):c.232C>A (p.Pro78Thr) rs554712164 0.00001
NM_022725.4(FANCF):c.233C>T (p.Pro78Leu) rs928361745 0.00001
NM_022725.4(FANCF):c.251A>G (p.Gln84Arg) rs756488831 0.00001
NM_022725.4(FANCF):c.332T>C (p.Leu111Pro) rs373385251 0.00001
NM_022725.4(FANCF):c.338A>G (p.Gln113Arg) rs757993614 0.00001
NM_022725.4(FANCF):c.356C>T (p.Pro119Leu) rs760472320 0.00001
NM_022725.4(FANCF):c.380A>G (p.Glu127Gly) rs1216924776 0.00001
NM_022725.4(FANCF):c.436C>G (p.Leu146Val) rs779428484 0.00001
NM_022725.4(FANCF):c.466A>G (p.Asn156Asp) rs370979205 0.00001
NM_022725.4(FANCF):c.469C>T (p.Leu157Phe) rs1060501870 0.00001
NM_022725.4(FANCF):c.580G>A (p.Glu194Lys) rs893075597 0.00001
NM_022725.4(FANCF):c.583C>A (p.Arg195Ser) rs1231820160 0.00001
NM_022725.4(FANCF):c.680A>G (p.His227Arg) rs1248152779 0.00001
NM_022725.4(FANCF):c.705A>C (p.Gln235His) rs768107677 0.00001
NM_022725.4(FANCF):c.812C>T (p.Ser271Phe) rs1417824608 0.00001
NM_022725.4(FANCF):c.83C>G (p.Pro28Arg) rs374063561 0.00001
NM_022725.4(FANCF):c.849A>C (p.Gln283His) rs146848948 0.00001
NM_022725.4(FANCF):c.877A>G (p.Ile293Val) rs780747014 0.00001
NM_022725.4(FANCF):c.936A>T (p.Gln312His) rs371631248 0.00001
NC_000011.9:g.(?_22646226)_(22647362_?)dup
NC_000011.9:g.(?_22646232)_(22647356_?)dup
NM_022725.4(FANCF):c.*1338dup rs45554234
NM_022725.4(FANCF):c.*1509G>C rs886048153
NM_022725.4(FANCF):c.*1525T>G rs886048152
NM_022725.4(FANCF):c.*1696G>A rs886048149
NM_022725.4(FANCF):c.*286A>G rs1858607148
NM_022725.4(FANCF):c.*287C>T rs886048156
NM_022725.4(FANCF):c.*539T>A rs1858602761
NM_022725.4(FANCF):c.*624G>C rs768178918
NM_022725.4(FANCF):c.*650ATTAA[1] rs886048154
NM_022725.4(FANCF):c.*695dup rs796646840
NM_022725.4(FANCF):c.*857G>A rs964945469
NM_022725.4(FANCF):c.104T>G (p.Leu35Trp) rs2133798660
NM_022725.4(FANCF):c.10C>T (p.Leu4Phe)
NM_022725.4(FANCF):c.1123T>C (p.Ter375Gln)
NM_022725.4(FANCF):c.115C>T (p.Arg39Cys)
NM_022725.4(FANCF):c.119A>G (p.Tyr40Cys) rs1359473267
NM_022725.4(FANCF):c.130A>T (p.Ile44Phe)
NM_022725.4(FANCF):c.136C>G (p.Arg46Gly) rs758925111
NM_022725.4(FANCF):c.137G>A (p.Arg46Gln)
NM_022725.4(FANCF):c.139C>T (p.Arg47Cys)
NM_022725.4(FANCF):c.140_141delinsTT (p.Arg47Leu)
NM_022725.4(FANCF):c.160A>G (p.Ile54Val) rs2133798534
NM_022725.4(FANCF):c.164G>A (p.Arg55His)
NM_022725.4(FANCF):c.175G>C (p.Glu59Gln)
NM_022725.4(FANCF):c.191A>G (p.Asn64Ser) rs756433846
NM_022725.4(FANCF):c.192C>A (p.Asn64Lys) rs1413335884
NM_022725.4(FANCF):c.194A>C (p.Gln65Pro)
NM_022725.4(FANCF):c.211G>A (p.Gly71Ser) rs1590542146
NM_022725.4(FANCF):c.214T>G (p.Phe72Val)
NM_022725.4(FANCF):c.221G>A (p.Arg74Gln) rs1858634295
NM_022725.4(FANCF):c.223G>T (p.Gly75Cys) rs958516903
NM_022725.4(FANCF):c.244A>G (p.Asn82Asp)
NM_022725.4(FANCF):c.248T>C (p.Phe83Ser)
NM_022725.4(FANCF):c.253G>A (p.Ala85Thr)
NM_022725.4(FANCF):c.260G>T (p.Gly87Val)
NM_022725.4(FANCF):c.261_263del (p.His88del) rs886048158
NM_022725.4(FANCF):c.269A>G (p.Asp90Gly) rs746415789
NM_022725.4(FANCF):c.281C>G (p.Ser94Cys)
NM_022725.4(FANCF):c.281C>T (p.Ser94Phe) rs1454810693
NM_022725.4(FANCF):c.2T>C (p.Met1Thr) rs745495865
NM_022725.4(FANCF):c.301C>G (p.Arg101Gly) rs760571335
NM_022725.4(FANCF):c.318_319delinsCC (p.Ala107Pro) rs1565055434
NM_022725.4(FANCF):c.322C>T (p.Arg108Cys) rs200995539
NM_022725.4(FANCF):c.325T>C (p.Tyr109His) rs2133798077
NM_022725.4(FANCF):c.349C>T (p.Pro117Ser) rs372625322
NM_022725.4(FANCF):c.352G>A (p.Gly118Ser)
NM_022725.4(FANCF):c.352G>T (p.Gly118Cys) rs1060501871
NM_022725.4(FANCF):c.353G>T (p.Gly118Val) rs200874455
NM_022725.4(FANCF):c.364C>T (p.Arg122Trp)
NM_022725.4(FANCF):c.365G>C (p.Arg122Pro)
NM_022725.4(FANCF):c.370G>T (p.Ala124Ser) rs201357673
NM_022725.4(FANCF):c.385C>A (p.Leu129Ile)
NM_022725.4(FANCF):c.388C>A (p.Gln130Lys)
NM_022725.4(FANCF):c.388C>G (p.Gln130Glu)
NM_022725.4(FANCF):c.391G>A (p.Glu131Lys)
NM_022725.4(FANCF):c.407_415dup (p.Arg138_Arg139insLeuAlaArg)
NM_022725.4(FANCF):c.412C>A (p.Arg138Ser) rs565372884
NM_022725.4(FANCF):c.419G>A (p.Arg140Gln) rs868692458
NM_022725.4(FANCF):c.433A>G (p.Met145Val) rs766160698
NM_022725.4(FANCF):c.434T>G (p.Met145Arg)
NM_022725.4(FANCF):c.445A>G (p.Asn149Asp)
NM_022725.4(FANCF):c.447T>C (p.Asn149=)
NM_022725.4(FANCF):c.448G>C (p.Gly150Arg)
NM_022725.4(FANCF):c.449G>A (p.Gly150Asp)
NM_022725.4(FANCF):c.451T>A (p.Tyr151Asn) rs984455929
NM_022725.4(FANCF):c.457G>A (p.Glu153Lys) rs748768759
NM_022725.4(FANCF):c.462C>A (p.Asn154Lys)
NM_022725.4(FANCF):c.473A>G (p.Gln158Arg)
NM_022725.4(FANCF):c.477G>A (p.Glu159=)
NM_022725.4(FANCF):c.482C>G (p.Ser161Cys)
NM_022725.4(FANCF):c.484C>G (p.Leu162Val) rs2133797641
NM_022725.4(FANCF):c.489G>C (p.Met163Ile) rs1590541541
NM_022725.4(FANCF):c.494C>T (p.Thr165Ile)
NM_022725.4(FANCF):c.497A>C (p.Gln166Pro)
NM_022725.4(FANCF):c.49G>A (p.Val17Ile)
NM_022725.4(FANCF):c.49G>T (p.Val17Phe) rs758897077
NM_022725.4(FANCF):c.504_505delinsAT (p.Glu168_Leu169=)
NM_022725.4(FANCF):c.506T>A (p.Leu169Gln)
NM_022725.4(FANCF):c.50T>C (p.Val17Ala)
NM_022725.4(FANCF):c.533G>A (p.Gly178Glu)
NM_022725.4(FANCF):c.537G>C (p.Lys179Asn)
NM_022725.4(FANCF):c.544G>A (p.Ala182Thr) rs1858626528
NM_022725.4(FANCF):c.547G>A (p.Glu183Lys) rs774728053
NM_022725.4(FANCF):c.547G>C (p.Glu183Gln) rs774728053
NM_022725.4(FANCF):c.54A>G (p.Ser18=)
NM_022725.4(FANCF):c.551G>C (p.Arg184Pro)
NM_022725.4(FANCF):c.552_554inv (p.Pro185Asp)
NM_022725.4(FANCF):c.553C>T (p.Pro185Ser)
NM_022725.4(FANCF):c.581A>G (p.Glu194Gly) rs1274843959
NM_022725.4(FANCF):c.583C>T (p.Arg195Cys) rs1231820160
NM_022725.4(FANCF):c.606G>T (p.Leu202=)
NM_022725.4(FANCF):c.614T>C (p.Ile205Thr) rs764300983
NM_022725.4(FANCF):c.623C>A (p.Ala208Glu)
NM_022725.4(FANCF):c.623C>T (p.Ala208Val)
NM_022725.4(FANCF):c.626T>C (p.Leu209Pro) rs1554963662
NM_022725.4(FANCF):c.628T>C (p.Leu210=)
NM_022725.4(FANCF):c.62C>G (p.Thr21Ser) rs765672591
NM_022725.4(FANCF):c.635C>A (p.Pro212Gln) rs1590541259
NM_022725.4(FANCF):c.656A>G (p.Gln219Arg) rs1230568893
NM_022725.4(FANCF):c.65A>G (p.Tyr22Cys) rs1590542501
NM_022725.4(FANCF):c.668A>C (p.Glu223Ala)
NM_022725.4(FANCF):c.670C>A (p.Pro224Thr) rs767765820
NM_022725.4(FANCF):c.683A>C (p.Lys228Thr)
NM_022725.4(FANCF):c.683A>G (p.Lys228Arg) rs766802308
NM_022725.4(FANCF):c.688C>T (p.Pro230Ser) rs773724648
NM_022725.4(FANCF):c.689C>G (p.Pro230Arg) rs762305649
NM_022725.4(FANCF):c.692G>A (p.Gly231Glu) rs1858622610
NM_022725.4(FANCF):c.696G>C (p.Glu232Asp) rs1590541131
NM_022725.4(FANCF):c.696G>T (p.Glu232Asp) rs1590541131
NM_022725.4(FANCF):c.70A>G (p.Ser24Gly) rs1858638724
NM_022725.4(FANCF):c.70A>T (p.Ser24Cys) rs1858638724
NM_022725.4(FANCF):c.760G>A (p.Ala254Thr)
NM_022725.4(FANCF):c.763C>G (p.Leu255Val)
NM_022725.4(FANCF):c.769G>A (p.Ala257Thr)
NM_022725.4(FANCF):c.78G>C (p.Trp26Cys) rs764519472
NM_022725.4(FANCF):c.790A>T (p.Thr264Ser) rs1663559839
NM_022725.4(FANCF):c.795C>A (p.Ser265Arg) rs758796858
NM_022725.4(FANCF):c.799C>T (p.His267Tyr)
NM_022725.4(FANCF):c.801C>A (p.His267Gln) rs762356967
NM_022725.4(FANCF):c.80A>C (p.Asp27Ala)
NM_022725.4(FANCF):c.814C>T (p.Pro272Ser)
NM_022725.4(FANCF):c.817G>C (p.Val273Leu) rs1858619819
NM_022725.4(FANCF):c.821A>C (p.Tyr274Ser) rs144524228
NM_022725.4(FANCF):c.821A>G (p.Tyr274Cys) rs144524228
NM_022725.4(FANCF):c.829C>G (p.Leu277Val)
NM_022725.4(FANCF):c.838G>A (p.Asp280Asn)
NM_022725.4(FANCF):c.838G>T (p.Asp280Tyr)
NM_022725.4(FANCF):c.841T>C (p.Trp281Arg)
NM_022725.4(FANCF):c.845G>A (p.Gly282Asp) rs2133796678
NM_022725.4(FANCF):c.851G>C (p.Arg284Pro)
NM_022725.4(FANCF):c.857A>C (p.His286Pro)
NM_022725.4(FANCF):c.857A>G (p.His286Arg) rs368940253
NM_022725.4(FANCF):c.85G>C (p.Ala29Pro)
NM_022725.4(FANCF):c.866T>C (p.Leu289Pro) rs1177443868
NM_022725.4(FANCF):c.869A>C (p.Gln290Pro) rs2133796621
NM_022725.4(FANCF):c.88A>G (p.Thr30Ala)
NM_022725.4(FANCF):c.89C>G (p.Thr30Ser) rs370347668
NM_022725.4(FANCF):c.95G>A (p.Arg32His)
NM_022725.4(FANCF):c.96_98dup (p.Arg33dup) rs1554963731
NM_022725.4(FANCF):c.98G>A (p.Arg33Gln) rs2133798673
NM_022725.4(FANCF):c.98G>C (p.Arg33Pro)

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