ClinVar Miner

Variants in gene FANCA with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
4426 752 0 228 214 0 54 447

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 161 35 7 4
likely pathogenic 162 0 29 3 0
uncertain significance 36 29 0 202 30
likely benign 7 3 202 0 66
benign 4 0 30 66 0

All variants with conflicting interpretations #

Total variants: 447
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02789
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960 0.00895
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_000135.4(FANCA):c.1826+12C>T rs183513839 0.00514
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
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.623C>T (p.Ser208Leu) rs144420697 0.00325
NM_000135.4(FANCA):c.1626+16C>T rs1800333 0.00322
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00282
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634 0.00267
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00197
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384 0.00184
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln) rs138013482 0.00166
NM_000135.4(FANCA):c.1360-10C>G rs150836356 0.00165
NM_000135.4(FANCA):c.1471-12A>G rs9282684 0.00163
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=) rs17227071 0.00158
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) rs140823801 0.00137
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091 0.00116
NM_000135.4(FANCA):c.80-13C>T rs189841793 0.00110
NM_000135.4(FANCA):c.237C>T (p.Asp79=) rs144151341 0.00089
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) rs147882314 0.00076
NM_000135.4(FANCA):c.2364C>T (p.Ala788=) rs149754397 0.00064
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) rs144118098 0.00058
NM_000135.4(FANCA):c.3514-13G>A rs200270574 0.00056
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00052
NM_000135.4(FANCA):c.893+19C>G rs377406711 0.00051
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00048
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00046
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479 0.00037
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086 0.00033
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300 0.00031
NM_000135.4(FANCA):c.2478G>A (p.Thr826=) rs147283549 0.00030
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759 0.00029
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00029
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208 0.00029
NM_000135.4(FANCA):c.801T>C (p.Val267=) rs55660936 0.00028
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597 0.00025
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097 0.00025
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571 0.00024
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly) rs146491000 0.00022
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 0.00019
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303 0.00019
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00018
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753 0.00017
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791 0.00017
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298 0.00016
NM_000135.4(FANCA):c.1226-13G>C rs377159744 0.00016
NM_000135.4(FANCA):c.2504+6C>G rs749556479 0.00016
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000135.4(FANCA):c.3409-9C>G rs368943794 0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850 0.00016
NM_000135.4(FANCA):c.2152-20T>A rs200403206 0.00015
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00015
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln) rs200698961 0.00014
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616 0.00013
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00012
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033 0.00011
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00011
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile) rs747322973 0.00010
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361 0.00010
NM_000135.4(FANCA):c.1371G>T (p.Gly457=) rs369988875 0.00009
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.2309G>A (p.Arg770His) rs145552439 0.00009
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861 0.00009
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376 0.00009
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00009
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu) rs555519520 0.00009
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372 0.00008
NM_000135.4(FANCA):c.2856G>C (p.Gln952His) rs200093209 0.00008
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218 0.00008
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) rs185984960 0.00008
NM_000135.4(FANCA):c.1225+14C>T rs376558078 0.00007
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068 0.00007
NM_000135.4(FANCA):c.2222+7G>A rs374312736 0.00007
NM_000135.4(FANCA):c.265C>T (p.His89Tyr) rs746125523 0.00007
NM_000135.4(FANCA):c.2981+4dup rs75004096 0.00007
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00007
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn) rs148419748 0.00007
NM_000135.4(FANCA):c.1312G>A (p.Ala438Thr) rs752587443 0.00006
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) rs201212806 0.00006
NM_000135.4(FANCA):c.1806G>A (p.Ala602=) rs550064744 0.00006
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00006
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 0.00006
NM_000135.4(FANCA):c.2778+83C>T rs750997715 0.00006
NM_000135.4(FANCA):c.1007-7C>G rs111271660 0.00005
NM_000135.4(FANCA):c.1226-12G>C rs36011345 0.00005
NM_000135.4(FANCA):c.2152-13T>C rs752105563 0.00005
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser) rs751015814 0.00005
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile) rs376302719 0.00005
NM_000135.4(FANCA):c.2778+10C>T rs371786839 0.00005
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00005
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) rs35566151 0.00005
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala) rs762079136 0.00005
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237 0.00004
NM_000135.4(FANCA):c.189+7G>A rs369985388 0.00004
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg) rs140785340 0.00004
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312 0.00004
NM_000135.4(FANCA):c.2015-5C>T rs780349960 0.00004
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403 0.00004
NM_000135.4(FANCA):c.2982-15G>A rs55718325 0.00004
NM_000135.4(FANCA):c.2982-8C>G rs781331325 0.00004
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His) rs200022826 0.00004
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_000135.4(FANCA):c.522+9G>C rs113051956 0.00004
NM_000135.4(FANCA):c.793-9T>C rs757500718 0.00004
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg) rs764121307 0.00004
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu) rs531100141 0.00003
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145 0.00003
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp) rs143083764 0.00003
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769 0.00003
NM_000135.4(FANCA):c.1777-15C>G rs371919426 0.00003
NM_000135.4(FANCA):c.1815G>A (p.Glu605=) rs773613283 0.00003
NM_000135.4(FANCA):c.190-2A>T rs183350210 0.00003
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287 0.00003
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) rs779268656 0.00003
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824 0.00003
NM_000135.4(FANCA):c.3349-11C>A rs1190325114 0.00003
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582 0.00003
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp) rs201492940 0.00003
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp) rs759303096 0.00003
NM_000135.4(FANCA):c.361G>A (p.Val121Met) rs780035612 0.00003
NM_000135.4(FANCA):c.3626+7G>A rs933657325 0.00003
NM_000135.4(FANCA):c.3627-8T>G rs77877981 0.00003
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu) rs774448881 0.00003
NM_000135.4(FANCA):c.901G>C (p.Val301Leu) rs201134867 0.00003
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902 0.00002
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp) rs150290184 0.00002
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys) rs780135578 0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.1557C>T (p.Ala519=) rs765079866 0.00002
NM_000135.4(FANCA):c.1567-11C>A rs34353618 0.00002
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val) rs199599499 0.00002
NM_000135.4(FANCA):c.2109G>C (p.Gln703His) rs371458363 0.00002
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) rs556748657 0.00002
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly) rs767455904 0.00002
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008 0.00002
NM_000135.4(FANCA):c.2505-7T>C rs374909752 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln) rs138112218 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323 0.00002
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys) rs201992220 0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383 0.00002
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377 0.00002
NM_000135.4(FANCA):c.1007-17T>C rs760059831 0.00001
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys) rs375895456 0.00001
NM_000135.4(FANCA):c.1153C>T (p.His385Tyr) rs757760966 0.00001
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) rs1280130060 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1440C>T (p.Leu480=) rs1401053307 0.00001
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter) rs1266348463 0.00001
NM_000135.4(FANCA):c.1500C>T (p.Pro500=) rs139276494 0.00001
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile) rs200922390 0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102 0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293 0.00001
NM_000135.4(FANCA):c.1776+1G>A rs756140957 0.00001
NM_000135.4(FANCA):c.1777-17C>G rs1468919595 0.00001
NM_000135.4(FANCA):c.1803G>A (p.Val601=) rs757053400 0.00001
NM_000135.4(FANCA):c.189+1G>T rs891323617 0.00001
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451 0.00001
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly) rs1306842168 0.00001
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719 0.00001
NM_000135.4(FANCA):c.2009G>A (p.Arg670His) rs537923341 0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647 0.00001
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046 0.00001
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala) rs746373917 0.00001
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu) rs148203537 0.00001
NM_000135.4(FANCA):c.2152-10G>C rs557705265 0.00001
NM_000135.4(FANCA):c.2233dup (p.Trp745fs) rs2039278551 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.2394C>T (p.Leu798=) rs765883419 0.00001
NM_000135.4(FANCA):c.2417C>T (p.Pro806Leu) rs1352100383 0.00001
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989 0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2601+10C>G rs745601855 0.00001
NM_000135.4(FANCA):c.2601+1G>T rs1188581065 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2779-9C>G rs764825402 0.00001
NM_000135.4(FANCA):c.2853-2A>C rs947311062 0.00001
NM_000135.4(FANCA):c.2874G>A (p.Ala958=) rs199916178 0.00001
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709 0.00001
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser) rs757175768 0.00001
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) rs1429943036 0.00001
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met) rs140124051 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly) rs2038476999 0.00001
NM_000135.4(FANCA):c.3267C>T (p.Val1089=) rs994416299 0.00001
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=) rs762719233 0.00001
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser) rs772828870 0.00001
NM_000135.4(FANCA):c.3293A>G (p.Glu1098Gly) rs772633264 0.00001
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=) rs146062039 0.00001
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=) rs765106818 0.00001
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly) rs748713183 0.00001
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143 0.00001
NM_000135.4(FANCA):c.3626+4C>T rs772166806 0.00001
NM_000135.4(FANCA):c.3631C>T (p.Leu1211Phe) rs140143192 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) rs769919783 0.00001
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=) rs202107465 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.375C>T (p.Cys125=) rs199793463 0.00001
NM_000135.4(FANCA):c.386C>T (p.Ala129Val) rs577625130 0.00001
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.582A>G (p.Gln194=) rs748517164 0.00001
NM_000135.4(FANCA):c.596G>C (p.Ser199Thr) rs764157478 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn) rs779131886 0.00001
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.793-11T>C rs1030329914 0.00001
NM_000135.4(FANCA):c.793-12C>G rs746312984 0.00001
NM_000135.4(FANCA):c.793-3C>G rs749688050 0.00001
NM_000135.4(FANCA):c.797C>T (p.Thr266Met) rs752799441 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000135.4(FANCA):c.87G>A (p.Arg29=) rs760787108 0.00001
NM_000135.4(FANCA):c.894-2A>G rs976556567 0.00001
NM_000135.4(FANCA):c.913C>T (p.His305Tyr) rs774054025 0.00001
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000135.4(FANCA):c.1007-2A>G rs2040110878
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.105T>G (p.Tyr35Ter)
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1098G>T (p.Leu366=) rs1598152908
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.1194del (p.Cys399fs) rs2040090995
NM_000135.4(FANCA):c.1197C>A (p.Cys399Ter)
NM_000135.4(FANCA):c.1202del (p.Pro401fs) rs2040090741
NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter) rs2143529644
NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter) rs2544273183
NM_000135.4(FANCA):c.1226-1G>C rs1417768931
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.1287del (p.Ala430fs) rs2544270683
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) rs2040074214
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter) rs2040073991
NM_000135.4(FANCA):c.133G>T (p.Glu45Ter)
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter) rs2040072957
NM_000135.4(FANCA):c.1454C>A (p.Ser485Tyr) rs760790832
NM_000135.4(FANCA):c.1459dup (p.Arg487fs) rs2039844868
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1471-10C>G rs368356709
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser) rs1057521855
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.4(FANCA):c.1535C>G (p.Ser512Ter) rs2039774778
NM_000135.4(FANCA):c.1567-1G>C rs1464032361
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter) rs769047348
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter) rs1555580427
NM_000135.4(FANCA):c.1743C>T (p.Ser581=) rs2039611416
NM_000135.4(FANCA):c.1758C>T (p.Ala586=) rs765437064
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1777-3_1783del rs2039605605
NM_000135.4(FANCA):c.1777-41_1777-38del rs56163653
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe) rs562319781
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1812dup (p.Glu605fs) rs2544226343
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs) rs2041095238
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs) rs2544389395
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs) rs2143393148
NM_000135.4(FANCA):c.186T>A (p.Leu62=) rs1555580352
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter) rs1282690126
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.189+2T>A rs2041094594
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1901-9T>G rs886052486
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala) rs147300317
NM_000135.4(FANCA):c.2001dup (p.Ser668fs) rs2143366568
NM_000135.4(FANCA):c.2014+10G>T rs1567620967
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2015-1G>T rs1555548632
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) rs17232973
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs) rs2143351554
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) rs762526878
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs) rs2544202887
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer) rs2143711627
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2151+2T>C rs937874201
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs) rs2039289668
NM_000135.4(FANCA):c.2189T>C (p.Leu730Pro) rs2039289431
NM_000135.4(FANCA):c.2222+1G>C rs775388912
NM_000135.4(FANCA):c.2222+1G>T rs775388912
NM_000135.4(FANCA):c.2223-8C>G rs1598110961
NM_000135.4(FANCA):c.2248G>A (p.Val750Met) rs747723074
NM_000135.4(FANCA):c.2262_2263del (p.Cys754fs) rs752839367
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp) rs751572448
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2316+9C>T rs776301232
NM_000135.4(FANCA):c.2379G>A (p.Glu793=)
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer) rs2544195729
NM_000135.4(FANCA):c.2464C>T (p.Leu822=) rs2039262153
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) rs2039260856
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529C>G (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2551C>T (p.Gln851Ter) rs1406289451
NM_000135.4(FANCA):c.2564del (p.Thr855fs) rs2143308216
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter) rs1354272260
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser) rs2038969615
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly) rs766643461
NM_000135.4(FANCA):c.283+1G>A rs1232171121
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.284-2A>C rs756023006
NM_000135.4(FANCA):c.284-9G>C rs367672895
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852+1dup rs1424006580
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile) rs2544157065
NM_000135.4(FANCA):c.2904G>A (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.291_295del (p.Leu98fs) rs1206078224
NM_000135.4(FANCA):c.2981+13C>T rs2038838513
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter) rs758384536
NM_000135.4(FANCA):c.3066+1G>A rs587783028
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.306del (p.Ser103fs) rs2544365253
NM_000135.4(FANCA):c.3130C>T (p.Gln1044Ter) rs1172710952
NM_000135.4(FANCA):c.3141_3146del (p.Leu1048_Phe1049del) rs2038519209
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer) rs2143139166
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.3186G>T (p.Gly1062=) rs2038517320
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) rs776391208
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter) rs1450151864
NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg) rs761244757
NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter) rs746176365
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro) rs752837228
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly) rs2038474528
NM_000135.4(FANCA):c.3477C>T (p.Cys1159=) rs2143106071
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu) rs2038399117
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) rs2038398856
NM_000135.4(FANCA):c.3514-8C>T rs2143088562
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter) rs758341181
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter) rs1185165443
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.4(FANCA):c.3597G>A (p.Lys1199=) rs1240994313
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3627-1G>A rs2062172440
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
NM_000135.4(FANCA):c.3638dup (p.Pro1213_Glu1214insTer) rs1567598488
NM_000135.4(FANCA):c.3639T>C (p.Pro1213=) rs1567598479
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val) rs545742908
NM_000135.4(FANCA):c.3715G>T (p.Glu1239Ter) rs2143061441
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) rs2040853392
NM_000135.4(FANCA):c.426+1G>A rs1343463467
NM_000135.4(FANCA):c.426+2T>G rs1598190568
NM_000135.4(FANCA):c.427-2A>G rs765684774
NM_000135.4(FANCA):c.470C>T (p.Ala157Val) rs1251792942
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln) rs372691338
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
NM_000135.4(FANCA):c.642G>T (p.Leu214=) rs751215437
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000135.4(FANCA):c.710-1G>C rs1388128874
NM_000135.4(FANCA):c.710-2A>G rs2040523467
NM_000135.4(FANCA):c.710-5T>C rs2040523640
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.768T>C (p.Thr256=) rs1459779461
NM_000135.4(FANCA):c.80-10C>A rs771005210
NM_000135.4(FANCA):c.80-10C>G rs771005210
NM_000135.4(FANCA):c.80-8C>G rs749080227
NM_000135.4(FANCA):c.804T>C (p.Asp268=) rs2544305663
NM_000135.4(FANCA):c.820C>T (p.Leu274=) rs2040370137
NM_000135.4(FANCA):c.826+10T>C rs536052530
NM_000135.4(FANCA):c.826+2T>C rs2143585058
NM_000135.4(FANCA):c.826+4del rs2040369776
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn) rs759630319
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
Single allele

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.