ClinVar Miner

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

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 227
Download table as spreadsheet
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.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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.