ClinVar Miner

List of variants in gene FANCA reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000135.4(FANCA):c.1826+12C>T rs183513839 0.00518
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384 0.00184
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000135.4(FANCA):c.893+58A>T rs199624319 0.00094
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) rs147882314 0.00076
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00053
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000135.4(FANCA):c.1536A>C (p.Ser512=) rs766580461 0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000135.4(FANCA):c.1614G>A (p.Gly538=) rs747421581 0.00010
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376 0.00009
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_000135.4(FANCA):c.3693C>T (p.His1231=) rs144524132 0.00004
NM_000135.4(FANCA):c.1593C>T (p.Tyr531=) rs762342197 0.00003
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317 0.00003
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000135.4(FANCA):c.3260C>T (p.Ser1087Leu) rs376089640 0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383 0.00002
NM_000135.4(FANCA):c.169C>T (p.Leu57=) rs368828271 0.00001
NM_000135.4(FANCA):c.1803G>A (p.Val601=) rs757053400 0.00001
NM_000135.4(FANCA):c.2394C>T (p.Leu798=) rs765883419 0.00001
NM_000135.4(FANCA):c.2448G>A (p.Ala816=) rs752705496 0.00001
NM_000135.4(FANCA):c.2786del (p.Tyr929fs) rs779480428 0.00001
NM_000135.4(FANCA):c.2922C>T (p.Asp974=) rs756241886 0.00001
NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr) rs752735858 0.00001
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=) rs35402142 0.00001
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=) rs1266179547 0.00001
NM_000135.4(FANCA):c.3626+4C>T rs772166806 0.00001
NM_000135.4(FANCA):c.3754G>A (p.Glu1252Lys) rs766875357 0.00001
NM_000135.4(FANCA):c.483C>T (p.Phe161=) rs769389376 0.00001
NM_000135.4(FANCA):c.687C>T (p.Asp229=) rs1598177104 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
GRCh37/hg19 16q24.3(chr16:89815067-89883023)x1
GRCh37/hg19 16q24.3(chr16:89869667-89874775)x1
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1410G>A (p.Leu470=)
NM_000135.4(FANCA):c.1567-1G>T rs1464032361
NM_000135.4(FANCA):c.1615G>A (p.Asp539Asn) rs2039767633
NM_000135.4(FANCA):c.1663A>C (p.Ile555Leu) rs1335514576
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.183G>A (p.Leu61=) rs1447656431
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.2201C>T (p.Ser734Phe) rs753460067
NM_000135.4(FANCA):c.2223-133T>G
NM_000135.4(FANCA):c.2247C>G (p.Phe749Leu) rs772842754
NM_000135.4(FANCA):c.2477C>G (p.Thr826Arg) rs765888048
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2785del (p.Tyr929fs)
NM_000135.4(FANCA):c.2965A>G (p.Met989Val)
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter) rs1313006784
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.454G>C (p.Ala152Pro) rs2143677716
NM_000135.4(FANCA):c.459G>A (p.Gln153=) rs2040846276
NM_000135.4(FANCA):c.522+6T>C
NM_000135.4(FANCA):c.744dup (p.Lys249fs) rs1567645786
NM_000135.4(FANCA):c.768T>A (p.Thr256=)
NM_000135.4(FANCA):c.893+5G>C rs2040352785

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.