ClinVar Miner

List of variants in gene FANCA reported as likely pathogenic for Fanconi anemia

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) rs1280130060 0.00001
NM_000135.4(FANCA):c.1776+1G>A rs756140957 0.00001
NM_000135.4(FANCA):c.189+1G>T rs891323617 0.00001
NM_000135.4(FANCA):c.1900+1G>A rs1598120768 0.00001
NM_000135.4(FANCA):c.2222+1G>A rs775388912 0.00001
NM_000135.4(FANCA):c.2601+1G>T rs1188581065 0.00001
NM_000135.4(FANCA):c.2853-2A>C rs947311062 0.00001
NM_000135.4(FANCA):c.3513+1G>A rs1188082371 0.00001
NM_000135.4(FANCA):c.522+1G>T rs1365019056 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NC_000016.10:g.(?_89758567)_(89762032_?)dup
NC_000016.10:g.(?_89764807)_(89779967_?)del
NC_000016.10:g.(?_89791393)_(89799648_?)del
NC_000016.9:g.(89831475_89833548)_(89883066_?)del
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
NC_000016.9:g.(?_89816056)_(89816320_?)dup
NC_000016.9:g.(?_89818526)_(89833665_?)dup
NC_000016.9:g.(?_89818536)_(89818822_?)dup
NC_000016.9:g.(?_89824976)_(89831435_?)del
NC_000016.9:g.(?_89828347)_(89846375_?)dup
NC_000016.9:g.(?_89831215)_(89874785_?)del
NC_000016.9:g.(?_89842140)_(89851382_?)dup
NC_000016.9:g.(?_89857801)_(89881031_?)del
NC_000016.9:g.(?_89864654)_(89866056_?)dup
NC_000016.9:g.(?_89869657)_(89877489_?)dup
NM_000135.4(FANCA):c.1006+1G>T rs1555564436
NM_000135.4(FANCA):c.1007-2A>G rs2040110878
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1083+1G>A
NM_000135.4(FANCA):c.1225+2T>A
NM_000135.4(FANCA):c.1225+2T>G
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro) rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) rs2040074214
NM_000135.4(FANCA):c.1308G>C (p.Gln436His) rs1316078638
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1360-2A>G
NM_000135.4(FANCA):c.1459dup (p.Arg487fs) rs2039844868
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1566+1G>T
NM_000135.4(FANCA):c.1566+2C>G
NM_000135.4(FANCA):c.1567-1G>C rs1464032361
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1627-2A>G rs2143433058
NM_000135.4(FANCA):c.1715+1G>A
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1716-2A>G
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1777-2A>G rs2143422990
NM_000135.4(FANCA):c.1777-3_1783del rs2039605605
NM_000135.4(FANCA):c.1826+2T>A rs2039603867
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.189+2T>A rs2041094594
NM_000135.4(FANCA):c.190-2_203del rs2143711687
NM_000135.4(FANCA):c.1900+1G>T rs1598120768
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter) rs2143367693
NM_000135.4(FANCA):c.2014+1G>A
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2015-1G>T rs1555548632
NM_000135.4(FANCA):c.2015-2A>C rs2143351760
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2151+2T>C rs937874201
NM_000135.4(FANCA):c.2152-1G>A
NM_000135.4(FANCA):c.2222+1G>T rs775388912
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2317-1G>A rs1230207719
NM_000135.4(FANCA):c.2317-1G>T rs1230207719
NM_000135.4(FANCA):c.2504+1G>C rs2039260545
NM_000135.4(FANCA):c.2505-1G>C rs1438990537
NM_000135.4(FANCA):c.2779-1G>T rs2143261385
NM_000135.4(FANCA):c.283+1_283+11del rs2143710613
NM_000135.4(FANCA):c.284-1G>C rs781216924
NM_000135.4(FANCA):c.284-2A>C
NM_000135.4(FANCA):c.284-940_339del
NM_000135.4(FANCA):c.2852+2T>G rs766875860
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.3066+1G>A rs587783028
NM_000135.4(FANCA):c.3066+1G>C
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3067-2A>G rs2143140176
NM_000135.4(FANCA):c.3091del (p.Gln1031fs) rs2143139861
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly) rs753063086
NM_000135.4(FANCA):c.3240-1G>A rs2038478071
NM_000135.4(FANCA):c.337_338del (p.Ala114fs) rs2143680554
NM_000135.4(FANCA):c.3409-2A>G
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu) rs2038399117
NM_000135.4(FANCA):c.3513+1G>C
NM_000135.4(FANCA):c.3514-1G>T rs2143088468
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3626+1G>C rs34885858
NM_000135.4(FANCA):c.3626+2T>G
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
NM_000135.4(FANCA):c.3765+2C>T rs776827467
NM_000135.4(FANCA):c.423_426+14del rs2143678941
NM_000135.4(FANCA):c.426+1G>A rs1343463467
NM_000135.4(FANCA):c.426+2T>A rs1598190568
NM_000135.4(FANCA):c.426+2T>C
NM_000135.4(FANCA):c.426+2T>G rs1598190568
NM_000135.4(FANCA):c.427-2A>G rs765684774
NM_000135.4(FANCA):c.427-3C>G rs2040847223
NM_000135.4(FANCA):c.522+2T>C rs2143677013
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.523-2A>G rs746518509
NM_000135.4(FANCA):c.596+1G>A
NM_000135.4(FANCA):c.596+1G>C rs2143656696
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-1G>A
NM_000135.4(FANCA):c.710-1G>T
NM_000135.4(FANCA):c.793-2A>G
NM_000135.4(FANCA):c.826+2T>C rs2143585058
NM_000135.4(FANCA):c.827-1G>A
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.893+1G>C
NM_000135.4:c.1901_3240del
NM_000135.4:c.710_894del

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