ClinVar Miner

List of variants in gene FANCA reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
Download table as spreadsheet
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.1226-20A>G rs1800330 0.41702
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.2151+8T>C rs1800340 0.40536
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.2602-36G>T rs2159116 0.11784
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.2602-46T>A rs11076620 0.05847
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.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_000135.4(FANCA):c.80-164C>T rs111818726 0.01824
NM_000135.4(FANCA):c.80-215C>A rs34411624 0.01378
NM_000135.4(FANCA):c.1627-32T>C rs17226337 0.01179
NM_000135.4(FANCA):c.2504+161T>C rs17233050 0.01083
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.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.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.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 0.00062
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00053
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
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.2101A>G (p.Lys701Glu) rs56369086 0.00025
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097 0.00025
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00017
NM_000135.4(FANCA):c.2152-20T>A rs200403206 0.00016
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.200C>A (p.Pro67Gln) rs200698961 0.00014
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) rs556748657 0.00012
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00011
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 0.00011
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.2856G>C (p.Gln952His) rs200093209 0.00008
NM_000135.4(FANCA):c.1006+4G>C rs201771215 0.00007
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 0.00006
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616 0.00006
NM_000135.4(FANCA):c.3066+16C>T rs199529426 0.00006
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00005
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg) rs140785340 0.00004
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=) rs553086820 0.00004
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met) rs777032467 0.00003
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383 0.00002
NM_000135.4(FANCA):c.1007-17T>C rs760059831 0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293 0.00001
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val) rs199599499 0.00001
NM_000135.4(FANCA):c.2152-10G>C rs557705265 0.00001
NM_000135.4(FANCA):c.3513+13T>C rs560352340 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
GRCh37/hg19 16q24.3(chr16:89821155-89854723)x3
NM_000135.4(FANCA):c.1006+182C>G rs8051231
NM_000135.4(FANCA):c.1007-61del rs35617323
NM_000135.4(FANCA):c.1083+184G>A rs7196411
NM_000135.4(FANCA):c.1225+10del rs2143529499
NM_000135.4(FANCA):c.1225+20C>T rs199534742
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1359+111T>C rs8049660
NM_000135.4(FANCA):c.1470+122TTCCCC[2] rs146134541
NM_000135.4(FANCA):c.1470+229G>A rs16966142
NM_000135.4(FANCA):c.1471-225C>T rs12928089
NM_000135.4(FANCA):c.1471-230G>A rs12929129
NM_000135.4(FANCA):c.1626+163T>C rs17232735
NM_000135.4(FANCA):c.1715+196C>T rs17232756
NM_000135.4(FANCA):c.1777-41_1777-38del rs56163653
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.189+183C>G rs17232098
NM_000135.4(FANCA):c.190-55G>T rs1800284
NM_000135.4(FANCA):c.1901-205C>T rs4785721
NM_000135.4(FANCA):c.196G>C (p.Gly66Arg)
NM_000135.4(FANCA):c.2223-114C>T rs886952
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000135.4(FANCA):c.2505-236C>A rs6500443
NM_000135.4(FANCA):c.2505-4del
NM_000135.4(FANCA):c.2602-156C>T rs12600047
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000135.4(FANCA):c.2779-239G>C rs6500441
NM_000135.4(FANCA):c.2779-54G>A rs17226841
NM_000135.4(FANCA):c.283+106G>C rs17232127
NM_000135.4(FANCA):c.2982-340A>T rs17227022
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.3239+339A>G rs8044026
NM_000135.4(FANCA):c.3240-225_3240-223del rs17233490
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3348+249A>C rs2011877
NM_000135.4(FANCA):c.3349-5dup
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.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.3700A>G (p.Ile1234Val) rs1598063117
NM_000135.4(FANCA):c.3765+269A>G rs34027607
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.427-19dup
NM_000135.4(FANCA):c.523-258C>A rs7185013
NM_000135.4(FANCA):c.523-4dup
NM_000135.4(FANCA):c.596+205_596+207del rs376278387
NM_000135.4(FANCA):c.596+224C>T rs200753547
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000135.4(FANCA):c.710-298dup rs34752953
NM_000135.4(FANCA):c.793-249C>A rs17232393
NM_000135.4(FANCA):c.826+10T>C rs536052530

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