ClinVar Miner

List of variants in gene FANCA studied for not specified

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Gene type:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_000135.4(FANCA):c.1084-49G>C rs1800287 0.53385
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.1826+15T>C rs1800337 0.51138
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000135.4(FANCA):c.1226-20A>G rs1800330 0.41702
NM_000135.4(FANCA):c.3240-42G>A rs1800345 0.40844
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NM_000135.4(FANCA):c.1084-29A>G rs6500452 0.39672
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_000135.4(FANCA):c.2602-36G>T rs2159116 0.11784
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_000135.4(FANCA):c.894-8A>G rs11648881 0.06110
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910 0.05919
NM_000135.4(FANCA):c.1777-29T>C rs2302162 0.05904
NM_000135.4(FANCA):c.2779-7T>C rs17233253 0.05872
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000135.4(FANCA):c.3067-23G>A rs17227057 0.05859
NM_000135.4(FANCA):c.3765+37G>A rs34420680 0.05858
NM_000135.4(FANCA):c.2602-46T>A rs11076620 0.05847
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.427-25T>A rs9282685 0.05123
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917 0.03300
NM_000135.4(FANCA):c.1360-7C>T rs17232616 0.03003
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
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.1627-32T>C rs17226337 0.01179
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960 0.00895
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408 0.00601
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 0.00518
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_000135.4(FANCA):c.3348+29C>T rs1800348 0.00360
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 0.00303
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634 0.00282
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 0.00201
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384 0.00184
NM_000135.4(FANCA):c.1359+123C>G rs17232609 0.00178
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=) rs17227071 0.00172
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.754G>A (p.Asp252Asn) rs111944585 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.1626+29C>T rs1800334 0.00081
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) rs147882314 0.00076
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) rs144118098 0.00062
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
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.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300 0.00031
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086 0.00025
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597 0.00025
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571 0.00024
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00017
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850 0.00016
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_000135.4(FANCA):c.1640C>T (p.Ala547Val) rs550821697 0.00012
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) rs556748657 0.00012
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309 0.00011
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00011
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033 0.00011
NM_000135.4(FANCA):c.342C>T (p.Ala114=) rs777989691 0.00010
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.2376T>C (p.Gly792=) rs756138062 0.00009
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861 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.679C>G (p.His227Asp) rs142580507 0.00008
NM_000135.4(FANCA):c.2222+7G>A rs374312736 0.00007
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000135.4(FANCA):c.918G>A (p.Thr306=) rs199634699 0.00007
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile) rs774948790 0.00006
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00005
NM_000135.4(FANCA):c.2015-5C>T rs780349960 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.3536C>G (p.Pro1179Arg) rs141422170 0.00005
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg) rs140785340 0.00004
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403 0.00004
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315 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.3669C>T (p.Asp1223=) rs187074190 0.00004
NM_000135.4(FANCA):c.793-9T>C rs757500718 0.00004
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp) rs150290184 0.00003
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145 0.00003
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg) rs768676657 0.00003
NM_000135.4(FANCA):c.2308C>T (p.Arg770Cys) rs1354855145 0.00003
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317 0.00003
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln) rs750421982 0.00003
NM_000135.4(FANCA):c.301C>G (p.Gln101Glu) rs140412064 0.00003
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg) rs142379991 0.00003
NM_000135.4(FANCA):c.3666G>A (p.Pro1222=) rs780031277 0.00003
NM_000135.4(FANCA):c.522+9G>C rs113051956 0.00003
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323 0.00003
NM_000135.4(FANCA):c.596+12A>G rs377151927 0.00003
NM_000135.4(FANCA):c.827-156G>A rs797045571 0.00003
NM_000135.4(FANCA):c.1558G>C (p.Asp520His) rs754123446 0.00002
NM_000135.4(FANCA):c.1822A>G (p.Lys608Glu) rs938278864 0.00002
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312 0.00002
NM_000135.4(FANCA):c.2967G>A (p.Met989Ile) rs1178389035 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.1211A>G (p.Gln404Arg) rs769664248 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293 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.1859C>T (p.Thr620Ile) rs558276772 0.00001
NM_000135.4(FANCA):c.1860C>A (p.Thr620=) rs1041601770 0.00001
NM_000135.4(FANCA):c.220C>G (p.Leu74Val) rs770294560 0.00001
NM_000135.4(FANCA):c.2316+7C>G rs1366206489 0.00001
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val) rs144570744 0.00001
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr) rs771174892 0.00001
NM_000135.4(FANCA):c.3162A>G (p.Arg1054=) rs778275451 0.00001
NM_000135.4(FANCA):c.3457G>A (p.Asp1153Asn) rs753036862 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 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.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.521A>G (p.Gln174Arg) rs1378106123 0.00001
NM_000135.4(FANCA):c.90C>G (p.Val30=) rs532713581 0.00001
NC_000016.9:g.(89818631_89824984)_(89883066_?)dup
NC_000016.9:g.(89877480_89880927)_(89883066_?)dup
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu) rs199967286
NM_000135.4(FANCA):c.116G>C (p.Arg39Thr) rs151089298
NM_000135.4(FANCA):c.1245G>A (p.Met415Ile) rs1555561439
NM_000135.4(FANCA):c.1247C>T (p.Ala416Val) rs750689577
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1620T>C (p.Ile540=) rs1200375986
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.4(FANCA):c.1626+15G>C rs886038246
NM_000135.4(FANCA):c.1715+8G>A rs1209332039
NM_000135.4(FANCA):c.1777-41_1777-38del rs56163653
NM_000135.4(FANCA):c.1811T>C (p.Ile604Thr) rs1555551989
NM_000135.4(FANCA):c.1826+30_1826+31insTG rs36204974
NM_000135.4(FANCA):c.1861del (p.Tyr621fs) rs587778311
NM_000135.4(FANCA):c.1871C>T (p.Ala624Val) rs146491000
NM_000135.4(FANCA):c.1942G>A (p.Glu648Lys) rs1427276212
NM_000135.4(FANCA):c.199C>A (p.Pro67Thr) rs575469396
NM_000135.4(FANCA):c.2070C>T (p.His690=) rs1422723344
NM_000135.4(FANCA):c.2127G>A (p.Pro709=) rs771226546
NM_000135.4(FANCA):c.2140C>G (p.Arg714Gly) rs200284845
NM_000135.4(FANCA):c.2222+6G>A rs2143339557
NM_000135.4(FANCA):c.2265A>T (p.Gly755=) rs2143336208
NM_000135.4(FANCA):c.2316+12C>T rs768355887
NM_000135.4(FANCA):c.2316+9C>T rs776301232
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.4(FANCA):c.2568G>C (p.Leu856Phe) rs587778314
NM_000135.4(FANCA):c.2601+9A>T rs771837383
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000135.4(FANCA):c.2827G>C (p.Ala943Pro) rs2143260822
NM_000135.4(FANCA):c.2853-7G>T rs1244691285
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2927A>G (p.Asp976Gly) rs2143224701
NM_000135.4(FANCA):c.2942G>C (p.Cys981Ser) rs1555542910
NM_000135.4(FANCA):c.3163C>A (p.Arg1055=) rs753063086
NM_000135.4(FANCA):c.3212G>A (p.Arg1071Lys) rs924918296
NM_000135.4(FANCA):c.3239+11C>G rs200232122
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3315C>T (p.Cys1105=) rs749550737
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.4(FANCA):c.3468G>A (p.Leu1156=) rs1057520822
NM_000135.4(FANCA):c.3540G>A (p.Val1180=) rs1423399664
NM_000135.4(FANCA):c.3547T>G (p.Cys1183Gly) rs763856094
NM_000135.4(FANCA):c.370A>T (p.Ile124Phe) rs553656166
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.668C>T (p.Ala223Val) rs749362808
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del) rs555210441
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala) rs200988394
NM_000135.4(FANCA):c.805G>T (p.Val269Leu) rs1555566973

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