ClinVar Miner

List of variants in gene FANCA reported as benign for anemia

Included ClinVar conditions (292):
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Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
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.710-12A>G rs1800286 0.71452
NM_000135.4(FANCA):c.1226-80T>C rs6500450 0.53395
NM_000135.4(FANCA):c.1084-49G>C rs1800287 0.53385
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.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.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.1826+99T>A rs7187436 0.50149
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.596+143T>G rs11076627 0.45367
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.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.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.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.2364C>T (p.Ala788=) rs149754397 0.00064
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.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.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.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 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.1951G>A (p.Gly651Arg) rs140785340 0.00004
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=) rs553086820 0.00004
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.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
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.2223-114C>T rs886952
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000135.4(FANCA):c.2505-4del
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3349-5dup
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.427-19dup
NM_000135.4(FANCA):c.523-4dup
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000135.4(FANCA):c.826+10T>C rs536052530

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