ClinVar Miner

List of variants in gene FANCA reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 284
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00053
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367 0.00035
NM_000135.4(FANCA):c.1225+12C>T rs200672872 0.00030
NM_000135.4(FANCA):c.1716-20T>C rs367726674 0.00030
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759 0.00029
NM_000135.4(FANCA):c.801T>C (p.Val267=) rs55660936 0.00028
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097 0.00025
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly) rs146491000 0.00022
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791 0.00017
NM_000135.4(FANCA):c.2152-20T>A rs200403206 0.00016
NM_000135.4(FANCA):c.2504+6C>G rs749556479 0.00016
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln) rs200698961 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00013
NM_000135.4(FANCA):c.1776+11G>A rs377308050 0.00012
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) rs556748657 0.00012
NM_000135.4(FANCA):c.1471-20G>A rs374579239 0.00011
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) rs144704750 0.00010
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile) rs376888740 0.00010
NM_000135.4(FANCA):c.1776+13C>T rs371272310 0.00009
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu) rs373147908 0.00009
NM_000135.4(FANCA):c.2309G>A (p.Arg770His) rs145552439 0.00009
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372 0.00008
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283 0.00008
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218 0.00008
NM_000135.4(FANCA):c.679C>G (p.His227Asp) rs142580507 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.1634G>T (p.Ser545Ile) rs200922390 0.00007
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro) rs556235245 0.00007
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn) rs148419748 0.00007
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu) rs555519520 0.00007
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile) rs774948790 0.00006
NM_000135.4(FANCA):c.1226-4C>G rs934483477 0.00006
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.1901-10C>T rs766654290 0.00006
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 0.00006
NM_000135.4(FANCA):c.2778+12T>C rs775047268 0.00006
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) rs776603588 0.00006
NM_000135.4(FANCA):c.661A>G (p.Met221Val) rs150924963 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.2212C>T (p.Pro738Ser) rs751015814 0.00005
NM_000135.4(FANCA):c.2317-8C>T rs753766357 0.00005
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile) rs376302719 0.00005
NM_000135.4(FANCA):c.1359+5G>C rs183569738 0.00004
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met) rs761957732 0.00004
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237 0.00004
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171 0.00004
NM_000135.4(FANCA):c.1777-15C>G rs371919426 0.00004
NM_000135.4(FANCA):c.1799G>A (p.Arg600His) rs775917892 0.00004
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp) rs768520283 0.00004
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg) rs140785340 0.00004
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) rs763187355 0.00004
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln) rs377442601 0.00004
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr) rs142869950 0.00004
NM_000135.4(FANCA):c.2602-16T>G rs762865666 0.00004
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315 0.00004
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His) rs200022826 0.00004
NM_000135.4(FANCA):c.3239+7C>T rs775293779 0.00004
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582 0.00004
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg) rs764121307 0.00004
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413 0.00003
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp) rs150290184 0.00003
NM_000135.4(FANCA):c.1574T>C (p.Ile525Thr) rs752323052 0.00003
NM_000135.4(FANCA):c.1738G>A (p.Val580Met) rs769158149 0.00003
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769 0.00003
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly) rs1306842168 0.00003
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met) rs777032467 0.00003
NM_000135.4(FANCA):c.2964G>C (p.Leu988=) rs751495133 0.00003
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg) rs142379991 0.00003
NM_000135.4(FANCA):c.3349-19G>T rs377180908 0.00003
NM_000135.4(FANCA):c.344G>A (p.Gly115Glu) rs748263867 0.00003
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp) rs759303096 0.00003
NM_000135.4(FANCA):c.3627-9C>T rs547300201 0.00003
NM_000135.4(FANCA):c.426+13C>T rs755598667 0.00003
NM_000135.4(FANCA):c.81G>A (p.Ala27=) rs150247726 0.00003
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr) rs752532498 0.00002
NM_000135.4(FANCA):c.1007-3C>T rs557382436 0.00002
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902 0.00002
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu) rs531100141 0.00002
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe) rs982286482 0.00002
NM_000135.4(FANCA):c.1219C>G (p.Leu407Val) rs748005916 0.00002
NM_000135.4(FANCA):c.1236G>A (p.Ala412=) rs371993688 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.1331C>T (p.Ala444Val) rs144234991 0.00002
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val) rs762828757 0.00002
NM_000135.4(FANCA):c.1558G>C (p.Asp520His) rs754123446 0.00002
NM_000135.4(FANCA):c.1566+6C>G rs886939126 0.00002
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile) rs778754162 0.00002
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000135.4(FANCA):c.1781C>A (p.Pro594His) rs780295697 0.00002
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp) rs201672093 0.00002
NM_000135.4(FANCA):c.2109G>C (p.Gln703His) rs371458363 0.00002
NM_000135.4(FANCA):c.2123C>T (p.Thr708Met) rs775960094 0.00002
NM_000135.4(FANCA):c.2151+20A>G rs374555419 0.00002
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008 0.00002
NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg) rs369565161 0.00002
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn) rs1060501883 0.00002
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171 0.00002
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val) rs1419279017 0.00002
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824 0.00002
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro) rs977982480 0.00002
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu) rs780078373 0.00002
NM_000135.4(FANCA):c.3627-17C>T rs754751562 0.00002
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996 0.00002
NM_000135.4(FANCA):c.701T>C (p.Met234Thr) rs145869646 0.00002
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys) rs201992220 0.00002
NM_000135.4(FANCA):c.888G>A (p.Arg296=) rs942855447 0.00002
NM_000135.4(FANCA):c.1007-17T>C rs760059831 0.00001
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764 0.00001
NM_000135.4(FANCA):c.109C>T (p.Pro37Ser) rs780833865 0.00001
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala) rs774319222 0.00001
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe) rs751071791 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1251G>T (p.Gln417His) rs779068860 0.00001
NM_000135.4(FANCA):c.1360-12C>T rs951725614 0.00001
NM_000135.4(FANCA):c.1398C>G (p.Ser466Arg) rs565303230 0.00001
NM_000135.4(FANCA):c.1471-8A>G rs374717514 0.00001
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys) rs1012809189 0.00001
NM_000135.4(FANCA):c.1701C>T (p.Thr567=) rs745466726 0.00001
NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys) rs765036744 0.00001
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser) rs766939940 0.00001
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg) rs777736014 0.00001
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe) rs776682683 0.00001
NM_000135.4(FANCA):c.2022G>A (p.Ser674=) rs371997754 0.00001
NM_000135.4(FANCA):c.207T>C (p.Cys69=) rs941660593 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.2147A>G (p.His716Arg) rs751474452 0.00001
NM_000135.4(FANCA):c.2180G>A (p.Cys727Tyr) rs1425954290 0.00001
NM_000135.4(FANCA):c.2186A>G (p.Asn729Ser) rs1440861257 0.00001
NM_000135.4(FANCA):c.220C>G (p.Leu74Val) rs770294560 0.00001
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val) rs199938598 0.00001
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys) rs536086288 0.00001
NM_000135.4(FANCA):c.2247C>T (p.Phe749=) rs772842754 0.00001
NM_000135.4(FANCA):c.2322G>A (p.Pro774=) rs931091451 0.00001
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val) rs144570744 0.00001
NM_000135.4(FANCA):c.2459G>A (p.Ser820Asn) rs1339411422 0.00001
NM_000135.4(FANCA):c.2474G>A (p.Arg825Lys) rs751222471 0.00001
NM_000135.4(FANCA):c.2481G>A (p.Arg827=) rs749895479 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe) rs980582362 0.00001
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly) rs758619078 0.00001
NM_000135.4(FANCA):c.2704G>C (p.Asp902His) rs1009521389 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr) rs748454613 0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821 0.00001
NM_000135.4(FANCA):c.2852+13A>T rs189890126 0.00001
NM_000135.4(FANCA):c.2937T>C (p.Ala979=) rs762638564 0.00001
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val) rs773070418 0.00001
NM_000135.4(FANCA):c.294G>T (p.Leu98Phe) rs751380220 0.00001
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr) rs747913731 0.00001
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) rs764893807 0.00001
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=) rs768502785 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.338C>T (p.Ser113Leu) rs149903404 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000135.4(FANCA):c.353C>T (p.Ala118Val) rs1201642328 0.00001
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp) rs201492940 0.00001
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly) rs748713183 0.00001
NM_000135.4(FANCA):c.3626+4C>T rs772166806 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr) rs751899346 0.00001
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) rs769919783 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.483C>T (p.Phe161=) rs769389376 0.00001
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys) rs747651383 0.00001
NM_000135.4(FANCA):c.488G>A (p.Arg163His) rs375648811 0.00001
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys) rs758528624 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu) rs1598177148 0.00001
NM_000135.4(FANCA):c.700A>G (p.Met234Val) rs1042676101 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 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.894-10G>A rs751912856 0.00001
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn) rs1060501877 0.00001
NM_000135.4(FANCA):c.917C>T (p.Thr306Met) rs370852532 0.00001
NM_000135.4(FANCA):c.982C>G (p.Leu328Val) rs779244841 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu) rs199967286
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1150G>A (p.Val384Ile) rs751071791
NM_000135.4(FANCA):c.119C>T (p.Ala40Val) rs563060518
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1290G>T (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.1345G>A (p.Ala449Thr) rs2040073158
NM_000135.4(FANCA):c.1359+4A>T rs35476732
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1394G>C (p.Cys465Ser) rs2039847109
NM_000135.4(FANCA):c.1406C>T (p.Ala469Val) rs2039846606
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1594G>C (p.Glu532Gln) rs374490484
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met) rs148154682
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1755C>T (p.Pro585=) rs144704750
NM_000135.4(FANCA):c.1794C>G (p.Asp598Glu) rs2143422796
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe) rs562319781
NM_000135.4(FANCA):c.1799G>C (p.Arg600Pro) rs775917892
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) rs779375100
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs) rs2143393148
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr) rs139235751
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.2001dup (p.Ser668fs) rs2143366568
NM_000135.4(FANCA):c.2015-4G>A rs373954227
NM_000135.4(FANCA):c.2089G>C (p.Val697Leu) rs376888740
NM_000135.4(FANCA):c.2127G>A (p.Pro709=) rs771226546
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2151+7G>A rs2039330078
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu) rs1163885123
NM_000135.4(FANCA):c.2257A>G (p.Met753Val) rs757797015
NM_000135.4(FANCA):c.2286C>T (p.Leu762=) rs1419118181
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe) rs917707717
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2496C>T (p.Phe832=) rs2039260982
NM_000135.4(FANCA):c.2504+12_2504+14del rs1023581563
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn) rs746889340
NM_000135.4(FANCA):c.2602-18G>C rs774316884
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000135.4(FANCA):c.2728C>A (p.Leu910Ile) rs1216426444
NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro) rs1220495259
NM_000135.4(FANCA):c.2779-5C>G rs753286882
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.2843A>T (p.Asp948Val) rs193172749
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2853-4C>A rs1289126600
NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu) rs2038844439
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=) rs1302242291
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg) rs756620986
NM_000135.4(FANCA):c.3239+11C>G rs200232122
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) rs2038398856
NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln) rs147672303
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=) rs776001484
NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe) rs1203053045
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val) rs545742908
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.396T>G (p.Ser132Arg) rs1272640964
NM_000135.4(FANCA):c.505G>A (p.Glu169Lys) rs372691338
NM_000135.4(FANCA):c.515A>G (p.Lys172Arg) rs2040844359
NM_000135.4(FANCA):c.523-37TTGTTT[2] rs530849202
NM_000135.4(FANCA):c.558C>G (p.His186Gln) rs149159377
NM_000135.4(FANCA):c.558C>T (p.His186=) rs149159377
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs) rs2143657184
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr) rs746814384
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000135.4(FANCA):c.710-20_710-19del rs2040524550
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys) rs760744752
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg) rs1598173112
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.924C>A (p.Gly308=) rs143255238
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000135.4(FANCA):c.994C>A (p.Pro332Thr) rs1056497675

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