ClinVar Miner

List of variants studied for Fanconi anemia complementation group F by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022725.4(FANCF):c.*632G>A rs444923 0.97022
NM_022725.4(FANCF):c.*819C>T rs450946 0.96809
NM_022725.4(FANCF):c.*207C>T rs4447177 0.70234
NM_022725.4(FANCF):c.*1629C>T rs10500938 0.03856
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_022725.4(FANCF):c.*319A>G rs12294705 0.01761
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu) rs45451294 0.01158
NM_022725.4(FANCF):c.*738T>G rs76674060 0.00915
NM_022725.4(FANCF):c.*1484G>A rs181285048 0.00843
NM_022725.4(FANCF):c.96C>T (p.Arg32=) rs151253274 0.00838
NM_022725.4(FANCF):c.*2123G>A rs45625034 0.00813
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.557C>T (p.Ala186Val) rs113910234 0.00595
NM_022725.4(FANCF):c.*1879T>C rs45553340 0.00575
NM_022725.4(FANCF):c.*461G>T rs45458698 0.00359
NM_022725.4(FANCF):c.199A>C (p.Arg67=) rs146647469 0.00325
NM_022725.4(FANCF):c.*708C>T rs61889392 0.00321
NM_022725.4(FANCF):c.*106T>C rs16909782 0.00215
NM_022725.4(FANCF):c.786A>G (p.Leu262=) rs11026706 0.00215
NM_022725.4(FANCF):c.*1440A>G rs191742011 0.00155
NM_022725.4(FANCF):c.*709G>T rs140060318 0.00136
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.*1094A>G rs544116147 0.00031
NM_022725.3(FANCF):c.-31T>C rs202069513 0.00026
NM_022725.4(FANCF):c.465A>T (p.Pro155=) rs201215734 0.00020
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.1087C>T (p.Gln363Ter) rs201285915 0.00010
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.970A>G (p.Lys324Glu) rs200416138 0.00008
NM_022725.4(FANCF):c.*1535T>A rs886048151 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_022725.3(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.*555T>C rs1306529494 0.00002
NM_022725.4(FANCF):c.279C>T (p.Leu93=) rs199578614 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.210C>T (p.Gly70=) rs769740744 0.00001
NM_022725.4(FANCF):c.436C>G (p.Leu146Val) rs779428484 0.00001
NM_022725.4(FANCF):c.680A>G (p.His227Arg) rs1248152779 0.00001
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.*857G>A rs964945469
NM_022725.4(FANCF):c.-10C>T rs3740615
NM_022725.4(FANCF):c.1006G>A (p.Asp336Asn) rs886048157
NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys) rs1858614312
NM_022725.4(FANCF):c.1064G>A (p.Arg355His) rs758175326
NM_022725.4(FANCF):c.2T>C (p.Met1Thr) rs745495865
NM_022725.4(FANCF):c.484_485del (p.Leu162fs) rs587778340
NM_022725.4(FANCF):c.547G>C (p.Glu183Gln) rs774728053

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.