ClinVar Miner

List of variants in gene FANCA reported as pathogenic for Fanconi anemia complementation group A

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 385
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223 0.00002
NM_000135.4(FANCA):c.190-2A>T rs183350210 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000135.4(FANCA):c.3746T>C (p.Leu1249Pro) rs753316789 0.00002
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764 0.00001
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter) rs755018069 0.00001
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter) rs769718381 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.1645C>T (p.Gln549Ter) rs779745863 0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102 0.00001
NM_000135.4(FANCA):c.1776+1G>A rs756140957 0.00001
NM_000135.4(FANCA):c.190-1G>C rs765277254 0.00001
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451 0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647 0.00001
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) rs762526878 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.2348G>T (p.Gly783Val) rs935069258 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+1G>T rs1188581065 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821 0.00001
NM_000135.4(FANCA):c.2853-2A>C rs947311062 0.00001
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 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.709+5G>A rs759877008 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.894-2A>G rs976556567 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
GRCh37/hg19 16q24.3(chr16:89818649-89883044)
NC_000016.10:g.(89742939_89744958)_(89748768_89749729)del
NC_000016.10:g.(89742939_89744958)_(89767238_89769836)del
NC_000016.10:g.(89742939_89744958)_(89816657_?)del
NC_000016.10:g.(89746891_89748658)_(89752223_89758576)del
NC_000016.10:g.(89746891_89748658)_(89796019_89799165)del
NC_000016.10:g.(89748768_89749729)_(89758706_89761948)del
NC_000016.10:g.(89749903_89752137)_(89792548_89795905)del
NC_000016.10:g.(89749903_89752137)_(89816657_?)del
NC_000016.10:g.(89752223_89758576)_(89762023_89764889)del
NC_000016.10:g.(89752223_89758576)_(89767238_89769836)del
NC_000016.10:g.(89752223_89758576)_(89773385_89775741)del
NC_000016.10:g.(89752223_89758576)_(89816657_?)del
NC_000016.10:g.(89758706_89761948)_(89765067_89767140)del
NC_000016.10:g.(89758706_89761948)_(89773385_89775741)del
NC_000016.10:g.(89758706_89761948)_(89775816_89778800)del
NC_000016.10:g.(89758706_89761948)_(89779958_89782858)del
NC_000016.10:g.(89762023_89764889)_(89765067_89767140)del
NC_000016.10:g.(89762023_89764889)_(89770635_89771677)del
NC_000016.10:g.(89762023_89764889)_(89773385_89775741)del
NC_000016.10:g.(89762023_89764889)_(89775816_89778800)del
NC_000016.10:g.(89762023_89764889)_(89784965_89791402)del
NC_000016.10:g.(89765067_89767140)_(89803342_89805279)del
NC_000016.10:g.(89767238_89769836)_(89775816_89778800)del
NC_000016.10:g.(89767238_89769836)_(89783103_89784853)del
NC_000016.10:g.(89770635_89771677)_(89779958_89782858)del
NC_000016.10:g.(89770635_89771677)_(89783103_89784853)del
NC_000016.10:g.(89770635_89771677)_(89784965_89791402)del
NC_000016.10:g.(89770635_89771677)_(89792548_89795905)del
NC_000016.10:g.(89771815_89773270)_(89775816_89778800)del
NC_000016.10:g.(89771815_89773270)_(89783103_89784853)del
NC_000016.10:g.(89773385_89775741)_(89775816_89778800)del
NC_000016.10:g.(89773385_89775741)_(89779958_89782858)del
NC_000016.10:g.(89773385_89775741)_(89784965_89791402)dup
NC_000016.10:g.(89773385_89775741)_(89796019_89799165)del
NC_000016.10:g.(89773385_89775741)_(89808368_89810706)del
NC_000016.10:g.(89773385_89775741)_(89816657_?)del
NC_000016.10:g.(89775816_89778800)_(89783103_89784853)del
NC_000016.10:g.(89775816_89778800)_(89784965_89791402)del
NC_000016.10:g.(89775816_89778800)_(89796019_89799165)del
NC_000016.10:g.(89775816_89778800)_(89805393_89808293)del
NC_000016.10:g.(89775816_89778800)_(89816657_?)del
NC_000016.10:g.(89779958_89782858)_(89784965_89791402)del
NC_000016.10:g.(89779958_89782858)_(89796019_89799165)del
NC_000016.10:g.(89779958_89782858)_(89799233_89799604)del
NC_000016.10:g.(89782919_89783006)_(89783103_89784853)del
NC_000016.10:g.(89783103_89784853)_(89784965_89791402)del
NC_000016.10:g.(89784965_89791402)_(89792069_89792470)del
NC_000016.10:g.(89784965_89791402)_(89792548_89795905)del
NC_000016.10:g.(89784965_89791402)_(89796019_89799165)del
NC_000016.10:g.(89784965_89791402)_(89805393_89808293)del
NC_000016.10:g.(89784965_89791402)_(89808368_89810706)del
NC_000016.10:g.(89784965_89791402)_(89816657_?)del
NC_000016.10:g.(89791537_89791926)_(89792069_89792470)del
NC_000016.10:g.(89791537_89791926)_(89799233_89799604)del
NC_000016.10:g.(89792069_89792470)_(89799233_89799604)del
NC_000016.10:g.(89792069_89792470)_(89816657_?)del
NC_000016.10:g.(89792548_89795905)_(89803342_89805279)del
NC_000016.10:g.(89792548_89795905)_(89805393_89808293)del
NC_000016.10:g.(89792548_89795905)_(89816657_?)del
NC_000016.10:g.(89799639_89803258)_(89811072_89814519)del
NC_000016.10:g.(89803342_89805279)_(89805393_89808293)del
NC_000016.10:g.(89803342_89805279)_(89816657_?)del
NC_000016.10:g.(89805279_89805393)_(89816657_?)del
NC_000016.10:g.(89805393_89808293)_(89814614_89815876)del
NC_000016.10:g.(89805393_89808293)_(89816657_?)del
NC_000016.10:g.(89808368_89810706)_(89810803_89810928)del
NC_000016.10:g.(89808368_89810706)_(89811072_89814519)del
NC_000016.10:g.(89808368_89810706)_(89815987_89816536)del
NC_000016.10:g.(89808368_89810706)_(89816657_?)del
NC_000016.10:g.(89811072_89814519)_(89814614_89815876)del
NC_000016.10:g.(89814614_89815876)_(89816657_?)del
NC_000016.10:g.(89815987_89816536)_(89816657_?)del
NC_000016.10:g.89748659_89762022del
NC_000016.10:g.89752141_89762025del
NC_000016.10:g.89754008_89816657del
NC_000016.10:g.89761950_89762023del rs2038967116
NC_000016.10:g.89811072del rs2040861554
NC_000016.9:g.(89816311_89818545)_(89871801_89874701)del
NC_000016.9:g.(89825114_89828356)_(89877480_89880927)del
NC_000016.9:g.89844985_89869211del
NM_000135.2(FANCA):c.(?_-42)_3066+281del
NM_000135.2(FANCA):c.(?_-42)_597-800del
NM_000135.2(FANCA):c.1007-10_2504+209del
NM_000135.2:c.1471-490_3627-655del
NM_000135.2:c.1471_1626del
NM_000135.2:c.1627_1900del
NM_000135.4(FANCA):c.1006+2_1006+5del rs2040229450
NM_000135.4(FANCA):c.1007-1del rs2040110823
NM_000135.4(FANCA):c.1007-2A>G rs2040110878
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1073T>G (p.Leu358Arg) rs1045404649
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1085T>C (p.Leu362Pro) rs2040094645
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1147del (p.Glu383fs) rs2040092247
NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)
NM_000135.4(FANCA):c.1164_1165del (p.Arg388fs) rs2040091643
NM_000135.4(FANCA):c.1193_1196del (p.Val398fs) rs2040090895
NM_000135.4(FANCA):c.1220T>G (p.Leu407Arg) rs2040089994
NM_000135.4(FANCA):c.1226-6_1226-2del rs2040076730
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.128T>A (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) rs2040074214
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1343A>G (p.Tyr448Cys) rs769203048
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.1430del (p.Leu477fs) rs2039845956
NM_000135.4(FANCA):c.1459dup (p.Arg487fs) rs2039844868
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter) rs2039844441
NM_000135.4(FANCA):c.1470+1G>T rs1555556175
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1470G>A (p.Gln490=) rs2039844218
NM_000135.4(FANCA):c.1471-1G>T rs2039777078
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.1492del (p.Leu498fs)
NM_000135.4(FANCA):c.1508dup (p.Tyr503Ter) rs2039775751
NM_000135.4(FANCA):c.1566+3A>C rs2039773398
NM_000135.4(FANCA):c.1567-1G>C rs1464032361
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1606del (p.Ser536fs) rs587776570
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1626+967_2015-679del
NM_000135.4(FANCA):c.1627-1G>T rs2039644862
NM_000135.4(FANCA):c.1703del (p.Val568fs) rs2039642419
NM_000135.4(FANCA):c.1709_1715+4del rs2039641869
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter) rs2041096125
NM_000135.4(FANCA):c.173dup (p.Asn58fs) rs2041095962
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1777-3_1783del rs2039605605
NM_000135.4(FANCA):c.1792G>A (p.Asp598Asn) rs2039605345
NM_000135.4(FANCA):c.1812dup (p.Glu605fs)
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs)
NM_000135.4(FANCA):c.190-146_284-1082del
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.190-494_597-592del
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) rs1567621042
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter) rs2039386741
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2014+479_2504+1244del
NM_000135.4(FANCA):c.2015-1G>T rs1555548632
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) rs17232973
NM_000135.4(FANCA):c.2054G>C (p.Arg685Thr) rs1183781456
NM_000135.4(FANCA):c.2066del (p.Gly689fs) rs2039334639
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.2121del (p.Asn707fs) rs2039331837
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter) rs781436006
NM_000135.4(FANCA):c.2150dup (p.Met717fs)
NM_000135.4(FANCA):c.2151+1G>A rs1555548428
NM_000135.4(FANCA):c.2151+2_2151+3insG rs2039330307
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro) rs2039290343
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2189T>C (p.Leu730Pro) rs2039289431
NM_000135.4(FANCA):c.221_222del (p.Leu74fs) rs2041026878
NM_000135.4(FANCA):c.2222+1G>C rs775388912
NM_000135.4(FANCA):c.2222+1G>T rs775388912
NM_000135.4(FANCA):c.2223-3C>G rs2039278966
NM_000135.4(FANCA):c.2224C>A (p.Gln742Lys) rs1239354393
NM_000135.4(FANCA):c.2265dup (p.Arg756fs) rs2143336220
NM_000135.4(FANCA):c.2282T>A (p.Val761Glu) rs2039276663
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp) rs751572448
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) rs761725308
NM_000135.4(FANCA):c.2316+1G>T rs2039275333
NM_000135.4(FANCA):c.2317-2A>G rs1567618264
NM_000135.4(FANCA):c.2317-30_2317-1del
NM_000135.4(FANCA):c.2327dup (p.Ser777fs) rs2039267300
NM_000135.4(FANCA):c.233_236del (p.Ile78fs) rs2041026343
NM_000135.4(FANCA):c.2351dup (p.Leu784fs) rs2039266434
NM_000135.4(FANCA):c.2362G>C (p.Ala788Pro) rs1036897594
NM_000135.4(FANCA):c.236_239del (p.Asp79fs) rs1336033143
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
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.2450T>C (p.Leu817Pro) rs1307805145
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.2504+134A>G rs2039254077
NM_000135.4(FANCA):c.2504+2T>C rs2039260502
NM_000135.4(FANCA):c.2513C>G (p.Thr838Arg) rs1216922486
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2527T>G (p.Tyr843Asp) rs374030577
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.2533_2536del (p.Leu845fs) rs763378933
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter) rs761469030
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter) rs1354272260
NM_000135.4(FANCA):c.2723T>C (p.Leu908Pro) rs2039075542
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2736dup (p.His913fs) rs2039074823
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2778+1G>C rs140180549
NM_000135.4(FANCA):c.2778+1G>T rs140180549
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2794T>C (p.Trp932Arg) rs2038969261
NM_000135.4(FANCA):c.2806G>A (p.Glu936Lys) rs2038968872
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly) rs766643461
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.2827_2845dup (p.Thr949delinsSerTer) rs2038967521
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+1del rs2041024132
NM_000135.4(FANCA):c.283+2T>C
NM_000135.4(FANCA):c.283+3A>C rs786204204
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.284-1328_705del
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852+1del
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2854C>T (p.Gln952Ter) rs2038844790
NM_000135.4(FANCA):c.285_522+1del rs2040843894
NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile)
NM_000135.4(FANCA):c.2866C>T (p.Gln956Ter) rs2038844292
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter)
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) rs1057516430
NM_000135.4(FANCA):c.2982-192A>G rs2038628210
NM_000135.4(FANCA):c.3021_3027del (p.Phe1008fs) rs2038617702
NM_000135.4(FANCA):c.3066+1G>A rs587783028
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3067-1G>A rs2038522097
NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter) rs1270910813
NM_000135.4(FANCA):c.3130C>T (p.Gln1044Ter) rs1172710952
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) rs1429943036
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.3166_3185dup (p.Gly1062_Trp1063insSerArgLeuTer) rs2038517512
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) rs776391208
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter) rs764030196
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3239+82T>G rs2038511531
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3239G>T (p.Arg1080Leu) rs1555538571
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly) rs2038476999
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter) rs775799529
NM_000135.4(FANCA):c.331_334dup (p.Leu112fs) rs2040859131
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro) rs752837228
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3348+5G>A rs1343799019
NM_000135.4(FANCA):c.3349-2A>G rs2038409874
NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr) rs2038409656
NM_000135.4(FANCA):c.3439_3440del (p.Asp1147fs) rs2143106522
NM_000135.4(FANCA):c.3446_3449dup (p.Met1151fs)
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.3513G>A (p.Leu1171=) rs2038398296
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3560dup (p.His1188fs) rs2062211067
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter) rs2062210802
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3611G>C (p.Arg1204Pro) rs770622823
NM_000135.4(FANCA):c.3627-1G>A rs2062172440
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs) rs2062172394
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs) rs1304878514
NM_000135.4(FANCA):c.3639del (p.Glu1214fs) rs2062172051
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3703C>T (p.Gln1235Ter)
NM_000135.4(FANCA):c.3715_3729del (p.Glu1239_Arg1243del) rs1375036674
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3760G>T (p.Glu1254Ter) rs375700263
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.3761_3764dup (p.Leu1256fs) rs2062169220
NM_000135.4(FANCA):c.3765+1G>T rs2062169124
NM_000135.4(FANCA):c.396dup (p.His133fs) rs2040855193
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.416_417del (p.Val139fs) rs864622188
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.427-8_427-5del rs2040847430
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) rs539460201
NM_000135.4(FANCA):c.448G>T (p.Glu150Ter) rs947111024
NM_000135.4(FANCA):c.457C>T (p.Gln153Ter) rs774448881
NM_000135.4(FANCA):c.470C>T (p.Ala157Val) rs1251792942
NM_000135.4(FANCA):c.487del (p.Arg163fs) rs2040845588
NM_000135.4(FANCA):c.495del (p.Phe166fs) rs2143677288
NM_000135.4(FANCA):c.505G>T (p.Glu169Ter) rs372691338
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) rs121907930
NM_000135.4(FANCA):c.522+507_793-1273del
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs) rs2143657184
NM_000135.4(FANCA):c.596+548_793-219del
NM_000135.4(FANCA):c.597-2A>G rs2040602804
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
NM_000135.4(FANCA):c.629T>G (p.Leu210Arg) rs2040601073
NM_000135.4(FANCA):c.683C>G (p.Ala228Gly) rs1354884515
NM_000135.4(FANCA):c.709+1G>A rs753211631
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000135.4(FANCA):c.710-1G>C rs1388128874
NM_000135.4(FANCA):c.710-5T>C rs2040523640
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.784del (p.Met262fs) rs2040520715
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter) rs1353992080
NM_000135.4(FANCA):c.792+1G>C
NM_000135.4(FANCA):c.792G>A (p.Gln264=) rs2040520107
NM_000135.4(FANCA):c.793-2A>C rs2040372065
NM_000135.4(FANCA):c.795_808del (p.Thr266fs) rs2040370883
NM_000135.4(FANCA):c.820C>T (p.Leu274=) rs2040370137
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.851dup (p.Val285fs) rs1369685302
NM_000135.4(FANCA):c.88del (p.Val30fs) rs2041101804
NM_000135.4(FANCA):c.891_893+1del rs2040352874
NM_000135.4(FANCA):c.893+1G>T rs2040352832
NM_000135.4(FANCA):c.893+2T>A
NM_000135.4(FANCA):c.893+920C>A rs1174586234
NM_000135.4(FANCA):c.894-1137_1359+1837del
NM_000135.4(FANCA):c.894-1G>A rs2040234338
NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.933_936delinsCT (p.Ser312fs) rs2040232900
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.978_979del (p.Gln326fs) rs2040231133
NM_000135.4(FANCA):c.97G>T (p.Glu33Ter)
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000135.4(FANCA):c.[2316+1_2316+3del];[2778+1G>A]

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