ClinVar Miner

List of variants in gene FANCA studied for not provided

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Gene type:
ClinVar version:
Total variants: 577
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1360-203= rs7202091 0.99993
NM_000135.4(FANCA):c.1225+151T>C rs6500451 0.97075
NM_000135.4(FANCA):c.2316+67A>G rs7200990 0.97043
NM_000135.4(FANCA):c.596+216C>T rs7202331 0.95743
NM_000135.4(FANCA):c.596+224del rs68094133 0.95459
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_000135.4(FANCA):c.3066+236C>G rs3743862 0.71317
NM_000135.4(FANCA):c.793-114T>C rs7186192 0.65079
NM_000135.4(FANCA):c.3239+357A>G rs8043882 0.54329
NM_000135.4(FANCA):c.1226-80T>C rs6500450 0.53395
NM_000135.4(FANCA):c.1084-181G>C rs6500453 0.53387
NM_000135.4(FANCA):c.1084-49G>C rs1800287 0.53385
NM_000135.4(FANCA):c.1359+263T>C rs8045232 0.53323
NM_000135.4(FANCA):c.1827-151A>C rs1558184 0.52921
NM_000135.4(FANCA):c.596+74G>A rs1800285 0.52593
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_000135.4(FANCA):c.893+332A>G rs10852623 0.52208
NM_000135.4(FANCA):c.2222+107T>C rs886951 0.51679
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.2505-129G>C rs7203907 0.51112
NM_000135.4(FANCA):c.2222+100A>G rs886950 0.51061
NM_000135.4(FANCA):c.1471-119A>T rs12448860 0.50554
NM_000135.4(FANCA):c.1715+82T>C rs1800335 0.50497
NM_000135.4(FANCA):c.1715+227G>A rs3743859 0.50220
NM_000135.4(FANCA):c.1826+99T>A rs7187436 0.50149
NM_000135.4(FANCA):c.3066+55A>G rs3743860 0.46680
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000135.4(FANCA):c.1471-73G>A rs2239360 0.45821
NM_000135.4(FANCA):c.284-241G>A rs11859183 0.45715
NM_000135.4(FANCA):c.596+143T>G rs11076627 0.45367
NM_000135.4(FANCA):c.1359+189A>G rs1057042 0.41787
NM_000135.4(FANCA):c.2981+232A>G rs12709093 0.41398
NM_000135.4(FANCA):c.1900+121G>C rs3785275 0.41127
NM_000135.4(FANCA):c.3240-42G>A rs1800345 0.40844
NM_000135.4(FANCA):c.79+119G>A rs72631431 0.40299
NM_000135.4(FANCA):c.79+138C>A rs78004870 0.40194
NM_000135.4(FANCA):c.1007-53C>T rs3856 0.39752
NM_000135.4(FANCA):c.1084-29A>G rs6500452 0.39672
NM_000135.4(FANCA):c.3514-317A>G rs4785718 0.31239
NM_000135.4(FANCA):c.3627-203T>C rs2286392 0.13141
NM_000135.4(FANCA):c.3626+216T>C rs12918575 0.12851
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_000135.4(FANCA):c.3348+260A>G rs8058895 0.12079
NM_000135.4(FANCA):c.1006+112G>A rs17226075 0.11964
NM_000135.4(FANCA):c.1083+120G>A rs17226159 0.11919
NM_000135.4(FANCA):c.3513+214C>T rs45524337 0.11725
NM_000135.4(FANCA):c.2015-319G>A rs1007932 0.10417
NM_000135.4(FANCA):c.3626+158G>A rs17233623 0.09455
NM_000135.4(FANCA):c.3066+281C>T rs11646910 0.08980
NM_000135.4(FANCA):c.3514-342A>G rs62054603 0.07626
NM_000135.4(FANCA):c.709+312C>T rs17232309 0.07106
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_000135.4(FANCA):c.2222+73A>G rs1800341 0.06356
NM_000135.4(FANCA):c.1826+98A>G rs11642010 0.06195
NM_000135.4(FANCA):c.597-328_597-327insA rs202228910 0.06152
NM_000135.4(FANCA):c.597-327_597-326insT rs200929939 0.06136
NM_000135.4(FANCA):c.894-8A>G rs11648881 0.06110
NM_000135.4(FANCA):c.427-59A>G rs2074963 0.06105
NM_000135.4(FANCA):c.1007-80C>T rs17232533 0.06012
NM_000135.4(FANCA):c.2852+137T>C rs12933317 0.05974
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.1901-62A>G rs17226519 0.05895
NM_000135.4(FANCA):c.1827-256A>G rs17232840 0.05893
NM_000135.4(FANCA):c.1901-184A>G rs17226512 0.05891
NM_000135.4(FANCA):c.2152-284A>G rs11645240 0.05888
NM_000135.4(FANCA):c.2014+42G>T rs1800339 0.05887
NM_000135.4(FANCA):c.2853-225T>C rs17226966 0.05883
NM_000135.4(FANCA):c.2982-278G>A rs12599846 0.05882
NM_000135.4(FANCA):c.2853-135A>G rs17226973 0.05880
NM_000135.4(FANCA):c.2151+135A>G rs11076622 0.05874
NM_000135.4(FANCA):c.2779-7T>C rs17233253 0.05872
NM_000135.4(FANCA):c.2151+159T>C rs11076621 0.05871
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_000135.4(FANCA):c.3067-57A>C rs1800344 0.05869
NM_000135.4(FANCA):c.3627-202G>T rs2286393 0.05862
NM_000135.4(FANCA):c.3239+314C>T rs45524643 0.05861
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000135.4(FANCA):c.3240-146G>A rs17227085 0.05860
NM_000135.4(FANCA):c.3067-23G>A rs17227057 0.05859
NM_000135.4(FANCA):c.3067-114C>A rs17233448 0.05858
NM_000135.4(FANCA):c.3349-291G>A rs11641147 0.05858
NM_000135.4(FANCA):c.3765+37G>A rs34420680 0.05858
NM_000135.4(FANCA):c.3514-67T>C rs2074904 0.05854
NM_000135.4(FANCA):c.3514-184A>G rs2074903 0.05849
NM_000135.4(FANCA):c.2602-84G>A rs12600151 0.05842
NM_000135.4(FANCA):c.3513+57G>A rs17233595 0.05841
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_000135.4(FANCA):c.1470+258T>C rs11649510 0.05833
NM_000135.4(FANCA):c.1470+83G>A rs17232630 0.05832
NM_000135.4(FANCA):c.1470+305T>A rs11649501 0.05830
NM_000135.4(FANCA):c.1006+159C>G rs17226082 0.05584
NM_000135.4(FANCA):c.3513+62C>T rs34019730 0.05570
NM_000135.4(FANCA):c.190-173del rs17225740 0.05479
NM_000135.4(FANCA):c.1360-202T>C rs17226232 0.05341
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000135.4(FANCA):c.284-67C>G rs17232190 0.05130
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.3514-272G>C rs62054601 0.04914
NM_000135.4(FANCA):c.2982-102G>C rs12931267 0.04744
NM_000135.4(FANCA):c.3067-202A>C rs112307457 0.03438
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.3349-158G>A rs17227170 0.02266
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_000135.4(FANCA):c.522+152C>G rs11648309 0.02146
NM_000135.4(FANCA):c.283+84T>C rs17232120 0.02109
NC_000016.10:g.89816927C>G rs34784792 0.02075
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_000135.4(FANCA):c.80-164C>T rs111818726 0.01824
NM_000135.4(FANCA):c.1470+67C>G rs17232623 0.01619
NM_000135.4(FANCA):c.80-215C>A rs34411624 0.01378
NM_000135.4(FANCA):c.1716-215C>T rs17226351 0.01308
NM_000135.4(FANCA):c.2981+272A>G rs17233378 0.01218
NM_000135.4(FANCA):c.1627-32T>C rs17226337 0.01179
NM_000135.4(FANCA):c.893+242G>A rs45446001 0.01177
NM_000135.4(FANCA):c.893+741C>T rs17226033 0.01167
NM_000135.4(FANCA):c.792+263A>G rs17225957 0.01143
NM_000135.4(FANCA):c.597-327C>A rs17225908 0.01127
NM_000135.4(FANCA):c.894-293C>T rs73266600 0.01088
NM_000135.4(FANCA):c.2504+161T>C rs17233050 0.01083
NM_000135.4(FANCA):c.893+263A>G rs17226026 0.01073
NM_000135.4(FANCA):c.3766-142T>C rs17227326 0.01049
NM_000135.4(FANCA):c.1007-148T>C rs17232526 0.01048
NM_000135.4(FANCA):c.2316+65C>G rs1800343 0.01048
NM_000135.4(FANCA):c.1007-299A>T rs17226138 0.01046
NM_000135.4(FANCA):c.2779-53G>A rs17233239 0.01032
NM_000135.4(FANCA):c.709+58G>A rs34010191 0.00924
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960 0.00895
NM_000135.4(FANCA):c.1084-146G>A rs74033878 0.00891
NM_000135.4(FANCA):c.2152-96C>A rs7199740 0.00871
NM_000135.4(FANCA):c.2015-151C>G rs17226575 0.00861
NM_000135.4(FANCA):c.793-131C>T rs34427386 0.00772
NM_000135.4(FANCA):c.2505-70C>G rs17233134 0.00749
NM_000135.4(FANCA):c.522+116T>C rs17225810 0.00605
NM_000135.4(FANCA):c.1083+142G>A rs146920936 0.00590
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.894-186C>G rs17232463 0.00502
NM_000135.4(FANCA):c.2015-249C>T rs17226568 0.00488
NM_000135.4(FANCA):c.2852+133C>G rs17233260 0.00479
NM_000135.4(FANCA):c.1900+114C>G rs17226456 0.00465
NM_000135.4(FANCA):c.1715+131G>A rs17232749 0.00461
NM_000135.4(FANCA):c.2602-273C>T rs17226792 0.00448
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_000135.4(FANCA):c.1007-193G>A rs189906905 0.00403
NM_000135.4(FANCA):c.3627-119C>T rs17233706 0.00348
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_000135.4(FANCA):c.1626+185C>A rs142972042 0.00335
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_000135.4(FANCA):c.523-215G>A rs142301122 0.00329
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.827-31A>G rs150197645 0.00295
NM_000135.4(FANCA):c.3513+159T>C rs138337622 0.00284
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.3584G>A (p.Arg1195Gln) rs138013482 0.00166
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.80-13C>T rs189841793 0.00110
NM_000135.4(FANCA):c.893+58A>T rs199624319 0.00094
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.3514-13G>A rs200270574 0.00056
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00053
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_000135.4(FANCA):c.893+19C>G rs377406711 0.00051
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.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.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.577C>G (p.Leu193Val) rs141861208 0.00029
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.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.3551G>C (p.Arg1184Pro) rs147672303 0.00019
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00017
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791 0.00017
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.200C>A (p.Pro67Gln) rs200698961 0.00014
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_000135.4(FANCA):c.3240-11C>G rs138826926 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.105T>C (p.Tyr35=) rs747928827 0.00011
NM_000135.4(FANCA):c.1536A>C (p.Ser512=) rs766580461 0.00011
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309 0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 0.00011
NM_000135.4(FANCA):c.2842G>C (p.Asp948His) rs778254482 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.1281G>C (p.Met427Ile) rs747322973 0.00010
NM_000135.4(FANCA):c.1614G>A (p.Gly538=) rs747421581 0.00010
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.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376 0.00009
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.1006+4G>C rs201771215 0.00007
NM_000135.4(FANCA):c.2981+4dup rs75004096 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.1226-4C>G rs934483477 0.00006
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.1901-10C>T rs766654290 0.00006
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616 0.00006
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) rs776603588 0.00006
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 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.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_000135.4(FANCA):c.2316+9C>G rs776301232 0.00005
NM_000135.4(FANCA):c.2317-8C>T rs753766357 0.00005
NM_000135.4(FANCA):c.2778+10C>T rs371786839 0.00005
NM_000135.4(FANCA):c.1008A>G (p.Ala336=) rs1460026241 0.00004
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.2507T>A (p.Phe836Tyr) rs142869950 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.3032G>A (p.Arg1011His) rs200022826 0.00004
NM_000135.4(FANCA):c.3261G>A (p.Ser1087=) rs139126509 0.00004
NM_000135.4(FANCA):c.3434G>A (p.Ser1145Asn) rs375630115 0.00004
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_000135.4(FANCA):c.3669C>T (p.Asp1223=) rs187074190 0.00004
NM_000135.4(FANCA):c.3693C>T (p.His1231=) rs144524132 0.00004
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783 0.00004
NM_000135.4(FANCA):c.596+6G>A rs369548513 0.00004
NM_000135.4(FANCA):c.793-9T>C rs757500718 0.00004
NM_000135.4(FANCA):c.135A>G (p.Glu45=) rs141820040 0.00003
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg) rs768676657 0.00003
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp) rs143083764 0.00003
NM_000135.4(FANCA):c.1593C>T (p.Tyr531=) rs762342197 0.00003
NM_000135.4(FANCA):c.1901-9T>C rs886052486 0.00003
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly) rs1306842168 0.00003
NM_000135.4(FANCA):c.2014+12T>A rs370998253 0.00003
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317 0.00003
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287 0.00003
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg) rs142379991 0.00003
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) rs779268656 0.00003
NM_000135.4(FANCA):c.3627-8T>G rs77877981 0.00003
NM_000135.4(FANCA):c.3666G>A (p.Pro1222=) rs780031277 0.00003
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) rs750773229 0.00003
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323 0.00003
NM_000135.4(FANCA):c.81G>A (p.Ala27=) rs150247726 0.00003
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.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.190-2A>T rs183350210 0.00002
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp) rs201672093 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000135.4(FANCA):c.2979A>G (p.Gln993=) rs761577170 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.3260C>T (p.Ser1087Leu) rs376089640 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000135.4(FANCA):c.3726C>G (p.Ile1242Met) rs972127356 0.00002
NM_000135.4(FANCA):c.401C>T (p.Pro134Leu) rs143570168 0.00002
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996 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.1078C>T (p.Arg360Cys) rs375895456 0.00001
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe) rs751071791 0.00001
NM_000135.4(FANCA):c.1279A>G (p.Met427Val) rs368103890 0.00001
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys) rs748907151 0.00001
NM_000135.4(FANCA):c.1471-3C>G rs1291307989 0.00001
NM_000135.4(FANCA):c.1622C>A (p.Thr541Asn) rs775853544 0.00001
NM_000135.4(FANCA):c.1652T>C (p.Val551Ala) rs1331541085 0.00001
NM_000135.4(FANCA):c.169C>T (p.Leu57=) rs368828271 0.00001
NM_000135.4(FANCA):c.1716-10T>G rs1270971513 0.00001
NM_000135.4(FANCA):c.1725G>A (p.Arg575=) rs551108542 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.1798C>T (p.Arg600Cys) rs765036744 0.00001
NM_000135.4(FANCA):c.1803G>A (p.Val601=) rs757053400 0.00001
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg) rs777736014 0.00001
NM_000135.4(FANCA):c.1872C>A (p.Ala624=) rs571449307 0.00001
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu) rs148203537 0.00001
NM_000135.4(FANCA):c.2141G>A (p.Arg714Gln) rs1054636249 0.00001
NM_000135.4(FANCA):c.2223-2A>G rs1255001518 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.2448G>A (p.Ala816=) rs752705496 0.00001
NM_000135.4(FANCA):c.2504+10T>G rs770043372 0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265 0.00001
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly) rs758619078 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2786del (p.Tyr929fs) rs779480428 0.00001
NM_000135.4(FANCA):c.283+9T>C rs779593295 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.2922C>T (p.Asp974=) rs756241886 0.00001
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val) rs773070418 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.3193G>A (p.Val1065Met) rs140124051 0.00001
NM_000135.4(FANCA):c.3238C>T (p.Arg1080Trp) rs760392231 0.00001
NM_000135.4(FANCA):c.3250C>T (p.Arg1084Cys) rs764206631 0.00001
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu) rs149903404 0.00001
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=) rs1266179547 0.00001
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=) rs765106818 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000135.4(FANCA):c.3561A>G (p.Arg1187=) rs781679210 0.00001
NM_000135.4(FANCA):c.3626+4C>T rs772166806 0.00001
NM_000135.4(FANCA):c.3629T>C (p.Phe1210Ser) rs1250230818 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.3754G>A (p.Glu1252Lys) rs766875357 0.00001
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly) rs770716257 0.00001
NM_000135.4(FANCA):c.483C>T (p.Phe161=) rs769389376 0.00001
NM_000135.4(FANCA):c.486C>T (p.Ser162=) rs2040845636 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.571G>T (p.Val191Leu) rs1429483489 0.00001
NM_000135.4(FANCA):c.596+5C>T rs758345423 0.00001
NM_000135.4(FANCA):c.596G>C (p.Ser199Thr) rs764157478 0.00001
NM_000135.4(FANCA):c.687C>T (p.Asp229=) rs1598177104 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.839C>T (p.Ala280Val) rs767092317 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000135.4(FANCA):c.882C>G (p.Ile294Met) rs754520622 0.00001
NM_000135.4(FANCA):c.917C>T (p.Thr306Met) rs370852532 0.00001
NM_000135.4(FANCA):c.969C>G (p.Thr323=) rs747408661 0.00001
GRCh37/hg19 16q24.3(chr16:89815067-89883023)x1
GRCh37/hg19 16q24.3(chr16:89821155-89854723)x3
GRCh37/hg19 16q24.3(chr16:89828385-89858029)x1
GRCh37/hg19 16q24.3(chr16:89847604-89862444)x0
GRCh37/hg19 16q24.3(chr16:89869667-89874775)x1
NM_000135.3:c.-43_1900dup
NM_000135.3:c.-43_283dup
NM_000135.4(FANCA):c.1006+182C>G rs8051231
NM_000135.4(FANCA):c.1006+6C>T
NM_000135.4(FANCA):c.1007-104G>A rs75682340
NM_000135.4(FANCA):c.1007-119C>A rs186677967
NM_000135.4(FANCA):c.1007-3C>A
NM_000135.4(FANCA):c.1007-61del rs35617323
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1048_1049delinsGT (p.Arg350Val) rs2143534546
NM_000135.4(FANCA):c.1083+184G>A rs7196411
NM_000135.4(FANCA):c.1084-54C>G rs147784669
NM_000135.4(FANCA):c.1113G>C (p.Leu371Phe)
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1194del (p.Cys399fs) rs2040090995
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.1270C>G (p.Leu424Val)
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1336C>G (p.Leu446Val)
NM_000135.4(FANCA):c.1348G>C (p.Asp450His)
NM_000135.4(FANCA):c.1351T>G (p.Trp451Gly) rs2040072996
NM_000135.4(FANCA):c.1359+111T>C rs8049660
NM_000135.4(FANCA):c.1389T>C (p.His463=) rs756913331
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr) rs1190475225
NM_000135.4(FANCA):c.1410G>A (p.Leu470=)
NM_000135.4(FANCA):c.141T>C (p.Ala47=)
NM_000135.4(FANCA):c.1421T>C (p.Phe474Ser) rs1057524800
NM_000135.4(FANCA):c.1444C>T (p.Pro482Ser)
NM_000135.4(FANCA):c.1458C>T (p.Pro486=)
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly) rs929925295
NM_000135.4(FANCA):c.1470+122TTCCCC[2] rs146134541
NM_000135.4(FANCA):c.1470+229G>A rs16966142
NM_000135.4(FANCA):c.1471-1G>T rs2039777078
NM_000135.4(FANCA):c.1471-225C>T rs12928089
NM_000135.4(FANCA):c.1471-230G>A rs12929129
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser) rs1057521855
NM_000135.4(FANCA):c.1511G>A (p.Arg504His) rs778045457
NM_000135.4(FANCA):c.1561C>T (p.Leu521Phe)
NM_000135.4(FANCA):c.1566+2C>T rs1316950815
NM_000135.4(FANCA):c.1566+3A>G
NM_000135.4(FANCA):c.1567-1G>T rs1464032361
NM_000135.4(FANCA):c.1609G>T (p.Ala537Ser) rs2143458979
NM_000135.4(FANCA):c.1615G>A (p.Asp539Asn) rs2039767633
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1626+163T>C rs17232735
NM_000135.4(FANCA):c.1639G>C (p.Ala547Pro) rs2039644384
NM_000135.4(FANCA):c.1663A>C (p.Ile555Leu) rs1335514576
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.1715+196C>T rs17232756
NM_000135.4(FANCA):c.1716-155G>A rs2302161
NM_000135.4(FANCA):c.1716-2A>C rs2143424712
NM_000135.4(FANCA):c.1749C>G (p.Phe583Leu) rs2039611242
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1777-3C>G
NM_000135.4(FANCA):c.1777-41_1777-38del rs56163653
NM_000135.4(FANCA):c.1817C>G (p.Ser606Cys) rs2143422330
NM_000135.4(FANCA):c.1826+144_1826+146dup rs397693835
NM_000135.4(FANCA):c.1826+144_1826+148dup rs397693835
NM_000135.4(FANCA):c.1826+144dup rs397693835
NM_000135.4(FANCA):c.1826+173del rs397693835
NM_000135.4(FANCA):c.1826+30_1826+31insTG rs36204974
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_000135.4(FANCA):c.183G>A (p.Leu61=) rs1447656431
NM_000135.4(FANCA):c.189+183C>G rs17232098
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.190-287G>A
NM_000135.4(FANCA):c.190-55G>T rs1800284
NM_000135.4(FANCA):c.1900+151C>A rs138562629
NM_000135.4(FANCA):c.1901-1G>A rs1485075318
NM_000135.4(FANCA):c.1901-205C>T rs4785721
NM_000135.4(FANCA):c.1901-253C>G
NM_000135.4(FANCA):c.1915G>C (p.Val639Leu)
NM_000135.4(FANCA):c.1954C>T (p.Gln652Ter)
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala) rs147300317
NM_000135.4(FANCA):c.2003G>T (p.Ser668Ile)
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2032G>T (p.Ala678Ser)
NM_000135.4(FANCA):c.2062C>T (p.Leu688=)
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro) rs767631694
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys) rs774565293
NM_000135.4(FANCA):c.2151+7G>A rs2039330078
NM_000135.4(FANCA):c.2172G>A (p.Thr724=) rs768851944
NM_000135.4(FANCA):c.2201C>T (p.Ser734Phe) rs753460067
NM_000135.4(FANCA):c.2208C>T (p.Val736=) rs755638734
NM_000135.4(FANCA):c.2222+4A>G
NM_000135.4(FANCA):c.2223-114C>T rs886952
NM_000135.4(FANCA):c.2223-133T>G
NM_000135.4(FANCA):c.2247C>G (p.Phe749Leu) rs772842754
NM_000135.4(FANCA):c.2248G>A (p.Val750Met) rs747723074
NM_000135.4(FANCA):c.2260T>G (p.Cys754Gly)
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.2316+13T>C rs2143335460
NM_000135.4(FANCA):c.2321C>A (p.Pro774Gln)
NM_000135.4(FANCA):c.2325C>G (p.Ser775Arg) rs545765795
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2410G>T (p.Gly804Cys) rs2039264268
NM_000135.4(FANCA):c.2424T>C (p.Pro808=)
NM_000135.4(FANCA):c.2432G>C (p.Gly811Ala)
NM_000135.4(FANCA):c.2434C>T (p.Leu812Phe)
NM_000135.4(FANCA):c.2461del (p.Leu821fs) rs2143331971
NM_000135.4(FANCA):c.2477C>G (p.Thr826Arg) rs765888048
NM_000135.4(FANCA):c.2477C>T (p.Thr826Met) rs765888048
NM_000135.4(FANCA):c.2504+82C>G
NM_000135.4(FANCA):c.2505-236C>A rs6500443
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter) rs761469030
NM_000135.4(FANCA):c.2602-156C>T rs12600047
NM_000135.4(FANCA):c.2722C>T (p.Leu908Phe)
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2778+7_2778+36del rs1253945933
NM_000135.4(FANCA):c.2779-239G>C rs6500441
NM_000135.4(FANCA):c.2779-54G>A rs17226841
NM_000135.4(FANCA):c.2779-55C>G rs17226834
NM_000135.4(FANCA):c.2785del (p.Tyr929fs)
NM_000135.4(FANCA):c.2797T>C (p.Leu933=) rs961319091
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly) rs766643461
NM_000135.4(FANCA):c.2808G>C (p.Glu936Asp) rs2038968727
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.283+106G>C rs17232127
NM_000135.4(FANCA):c.284-151C>T rs12935638
NM_000135.4(FANCA):c.2853-268C>T
NM_000135.4(FANCA):c.2904G>A (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.2915G>C (p.Gly972Ala) rs1555542929
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) rs1057516430
NM_000135.4(FANCA):c.2965A>G (p.Met989Val)
NM_000135.4(FANCA):c.2982-340A>T rs17227022
NM_000135.4(FANCA):c.2982-358A>G
NM_000135.4(FANCA):c.3007A>T (p.Asn1003Tyr) rs1168739564
NM_000135.4(FANCA):c.3056C>G (p.Ser1019Cys) rs762111755
NM_000135.4(FANCA):c.3066+206C>G rs3743861
NM_000135.4(FANCA):c.3067-259G>T rs62054609
NM_000135.4(FANCA):c.3067-97T>C rs17233455
NM_000135.4(FANCA):c.3075A>T (p.Val1025=) rs780769017
NM_000135.4(FANCA):c.309A>G (p.Ser103=) rs1284727333
NM_000135.4(FANCA):c.3112C>T (p.Leu1038Phe)
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=) rs1302242291
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer) rs2143139166
NM_000135.4(FANCA):c.3157C>G (p.Arg1053Gly)
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly) rs753063086
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val) rs964650941
NM_000135.4(FANCA):c.3239+339A>G rs8044026
NM_000135.4(FANCA):c.3240-225_3240-223del rs17233490
NM_000135.4(FANCA):c.3256C>T (p.Pro1086Ser)
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His) rs1433848980
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly) rs1057520051
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3348+249A>C rs2011877
NM_000135.4(FANCA):c.3348+249A>T rs2011877
NM_000135.4(FANCA):c.3416T>A (p.Leu1139Gln) rs2143106961
NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln)
NM_000135.4(FANCA):c.3504C>G (p.Thr1168=) rs371464360
NM_000135.4(FANCA):c.3513+139_3513+140del rs17233602
NM_000135.4(FANCA):c.3513+230G>T rs12102297
NM_000135.4(FANCA):c.3514-150G>A rs35611562
NM_000135.4(FANCA):c.3514-340G>C rs62054602
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter) rs1598067532
NM_000135.4(FANCA):c.3544C>T (p.Leu1182Phe) rs2143088090
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter) rs1313006784
NM_000135.4(FANCA):c.3626+171A>G rs9923733
NM_000135.4(FANCA):c.3626+274_3626+275dup rs34088132
NM_000135.4(FANCA):c.3626+274dup rs34088132
NM_000135.4(FANCA):c.3626+283dup rs56850260
NM_000135.4(FANCA):c.3652C>A (p.Pro1218Thr) rs1555535564
NM_000135.4(FANCA):c.3653_3654inv (p.Pro1218Leu)
NM_000135.4(FANCA):c.3655G>A (p.Ala1219Thr) rs1064796909
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
NM_000135.4(FANCA):c.3683C>A (p.Ala1228Asp)
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter) rs2062169243
NM_000135.4(FANCA):c.3765+269A>G rs34027607
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.385G>A (p.Ala129Thr) rs374945563
NM_000135.4(FANCA):c.389A>T (p.Glu130Val)
NM_000135.4(FANCA):c.426+6A>G
NM_000135.4(FANCA):c.443del (p.Leu148fs)
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.505G>C (p.Glu169Gln)
NM_000135.4(FANCA):c.522+6T>C
NM_000135.4(FANCA):c.522+7T>C
NM_000135.4(FANCA):c.523-19GTTTT[2] rs755643283
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.523-258C>A rs7185013
NM_000135.4(FANCA):c.574A>C (p.Ser192Arg)
NM_000135.4(FANCA):c.596+205G>T rs58953926
NM_000135.4(FANCA):c.596+205_596+207del rs376278387
NM_000135.4(FANCA):c.596+224C>T rs200753547
NM_000135.4(FANCA):c.597-80del rs34937702
NM_000135.4(FANCA):c.617T>C (p.Val206Ala)
NM_000135.4(FANCA):c.623C>G (p.Ser208Trp) rs144420697
NM_000135.4(FANCA):c.643T>A (p.Cys215Ser)
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser) rs746814384
NM_000135.4(FANCA):c.703C>T (p.Leu235Phe) rs1316244239
NM_000135.4(FANCA):c.709+1G>C rs753211631
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000135.4(FANCA):c.710-298dup rs34752953
NM_000135.4(FANCA):c.744dup (p.Lys249fs) rs1567645786
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.768T>A (p.Thr256=)
NM_000135.4(FANCA):c.79+223C>T
NM_000135.4(FANCA):c.792+103C>T rs35506335
NM_000135.4(FANCA):c.793-1G>A rs1567642367
NM_000135.4(FANCA):c.793-249C>A rs17232393
NM_000135.4(FANCA):c.793-281C>T rs33938852
NM_000135.4(FANCA):c.819G>T (p.Met273Ile)
NM_000135.4(FANCA):c.85A>G (p.Arg29Gly)
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.883G>A (p.Val295Met)
NM_000135.4(FANCA):c.893+5G>C rs2040352785
NM_000135.4(FANCA):c.911G>A (p.Gly304Glu) rs745451374
NM_000135.4(FANCA):c.914A>C (p.His305Pro)
NM_000135.4(FANCA):c.921T>G (p.Leu307=)
NM_000135.4(FANCA):c.927T>A (p.Ser309Arg)
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099

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