ClinVar Miner

List of variants reported as likely benign for Fanconi anemia by Invitae

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 180
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HGVS dbSNP
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1365C>T (p.Ser455=) rs897548553
NM_000135.4(FANCA):c.1419G>C (p.Leu473=) rs1337670144
NM_000135.4(FANCA):c.1461G>A (p.Arg487=) rs770851522
NM_000135.4(FANCA):c.169C>T (p.Leu57=) rs368828271
NM_000135.4(FANCA):c.1710G>A (p.Glu570=) rs17226344
NM_000135.4(FANCA):c.1740G>A (p.Val580=) rs1400163791
NM_000135.4(FANCA):c.189+7G>A rs369985388
NM_000135.4(FANCA):c.201A>G (p.Pro67=) rs775320466
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.3409-6C>G rs377428227
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=) rs1266179547
NM_000135.4(FANCA):c.3627-7G>C rs1161905441
NM_000135.4(FANCA):c.3935-4G>A rs1392135704
NM_000135.4(FANCA):c.4167+8C>G rs772665586
NM_000135.4(FANCA):c.4210C>T (p.Leu1404=) rs1379441535
NM_000135.4(FANCA):c.4326T>C (p.Ala1442=) rs1555532716
NM_000135.4(FANCA):c.537T>G (p.Leu179=) rs749811331
NM_000135.4(FANCA):c.793-5G>T rs1461529538
NM_000135.4(FANCA):c.924C>T (p.Gly308=) rs143255238
NM_000135.4(FANCA):c.948G>A (p.Leu316=) rs767146506
NM_000136.3(FANCC):c.166-5C>T rs753820400
NM_000136.3(FANCC):c.896+7G>A rs1554833182
NM_000136.3(FANCC):c.906C>T (p.Leu302=) rs766079351
NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr) rs764817410
NM_001018113.3(FANCB):c.1659G>A (p.Thr553=) rs767952529
NM_001018113.3(FANCB):c.1707A>G (p.Pro569=) rs1555904427
NM_001018113.3(FANCB):c.741C>A (p.Ile247=) rs760773732
NM_001113378.1(FANCI):c.1278G>T (p.Leu426=) rs1060504377
NM_001113378.1(FANCI):c.1294-9_1294-8insA rs1555445524
NM_001113378.1(FANCI):c.1680G>A (p.Gln560=) rs1181466139
NM_001113378.1(FANCI):c.2097C>T (p.Tyr699=) rs148415946
NM_001113378.1(FANCI):c.2170-4T>C rs1167442446
NM_001113378.1(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939
NM_001113378.1(FANCI):c.3384G>A (p.Gln1128=) rs988319051
NM_001113378.1(FANCI):c.3652-9T>C rs971308997
NM_001113378.1(FANCI):c.3834C>T (p.His1278=) rs1450412741
NM_001113378.1(FANCI):c.756-4T>G rs1332788738
NM_001113378.1(FANCI):c.993G>A (p.Lys331=) rs146916445
NM_001114636.1(FANCL):c.273+7A>C rs745366278
NM_001114636.1(FANCL):c.51C>G (p.Pro17=) rs772700022
NM_001114636.1(FANCL):c.720C>T (p.Ser240=) rs1553435677
NM_001114636.1(FANCL):c.81A>C (p.Gly27=) rs1553459821
NM_001114636.1(FANCL):c.933T>C (p.Asp311=) rs1060504376
NM_004629.1(FANCG):c.177G>A (p.Gly59=) rs1554670511
NM_004629.1(FANCG):c.333G>A (p.Gly111=) rs1060504370
NM_004629.1(FANCG):c.345A>G (p.Glu115=) rs1213271836
NM_004629.1(FANCG):c.375C>A (p.Val125=) rs199754122
NM_004629.1(FANCG):c.558C>G (p.Pro186=) rs1554670415
NM_004629.1(FANCG):c.705G>A (p.Ala235=) rs148910563
NM_004629.1(FANCG):c.927C>G (p.Ala309=) rs370002843
NM_005236.2(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.2(ERCC4):c.1899C>G (p.Leu633=) rs954215121
NM_005236.2(ERCC4):c.1983A>G (p.Ala661=) rs373237850
NM_005236.2(ERCC4):c.228G>A (p.Leu76=) rs61760162
NM_005236.2(ERCC4):c.2427G>A (p.Thr809=) rs2020960
NM_018193.3(FANCI):c.1822-7del rs1457763718
NM_018193.3(FANCI):c.670-8_670-6del rs747690719
NM_020937.4(FANCM):c.2703A>G (p.Ser901=) rs781066677
NM_020937.4(FANCM):c.4311T>C (p.Ser1437=) rs1017827085
NM_020937.4(FANCM):c.5022T>C (p.Ser1674=) rs1295913364
NM_020937.4(FANCM):c.5199G>A (p.Gln1733=) rs1555367253
NM_020937.4(FANCM):c.6084T>C (p.Tyr2028=) rs756119280
NM_020937.4(FANCM):c.693A>G (p.Glu231=) rs146597866
NM_021922.2(FANCE):c.1053T>G (p.Leu351=) rs755165473
NM_021922.2(FANCE):c.1316+10C>T rs200479051
NM_021922.2(FANCE):c.561A>G (p.Glu187=) rs1554121329
NM_021922.2(FANCE):c.798G>A (p.Ser266=) rs746542545
NM_021922.2(FANCE):c.999C>T (p.Leu333=) rs776082827
NM_022725.3(FANCF):c.1035C>T (p.Ser345=) rs1554963603
NM_022725.3(FANCF):c.600C>T (p.Asn200=) rs143713546
NM_022725.3(FANCF):c.640T>C (p.Leu214=) rs773556058
NM_022725.3(FANCF):c.885T>G (p.Val295=) rs761238804
NM_022725.3(FANCF):c.993C>G (p.Thr331=) rs751274756
NM_032043.2(BRIP1):c.1050T>C (p.Cys350=) rs1555607717
NM_032043.2(BRIP1):c.1188T>C (p.His396=) rs1555607189
NM_032043.2(BRIP1):c.1200C>T (p.Asp400=) rs1555607173
NM_032043.2(BRIP1):c.1207C>A (p.Arg403=) rs369631413
NM_032043.2(BRIP1):c.1296G>A (p.Lys432=) rs757400610
NM_032043.2(BRIP1):c.1332C>T (p.Ser444=) rs200581792
NM_032043.2(BRIP1):c.1340+7A>T rs755399646
NM_032043.2(BRIP1):c.1340+9A>T rs376487588
NM_032043.2(BRIP1):c.1341-8_1341-4delTATTT rs1555605965
NM_032043.2(BRIP1):c.1371A>G (p.Val457=) rs935612010
NM_032043.2(BRIP1):c.1615A>C (p.Arg539=) rs1555603468
NM_032043.2(BRIP1):c.1686T>C (p.Ile562=) rs1374464175
NM_032043.2(BRIP1):c.1728T>C (p.Asn576=) rs1555602531
NM_032043.2(BRIP1):c.1797C>G (p.Ala599=) rs771672834
NM_032043.2(BRIP1):c.1971T>G (p.Gly657=) rs1555601157
NM_032043.2(BRIP1):c.2085G>A (p.Leu695=) rs1555601008
NM_032043.2(BRIP1):c.2154G>A (p.Glu718=) rs1057523978
NM_032043.2(BRIP1):c.2223G>T (p.Val741=) rs1057522996
NM_032043.2(BRIP1):c.2238C>T (p.Ile746=) rs876660416
NM_032043.2(BRIP1):c.2262A>T (p.Gly754=) rs1060504324
NM_032043.2(BRIP1):c.2373T>C (p.Asp791=) rs876659615
NM_032043.2(BRIP1):c.2379+9T>C rs1555590278
NM_032043.2(BRIP1):c.2412T>C (p.His804=) rs1555580913
NM_032043.2(BRIP1):c.2556C>T (p.Asn852=) rs876658785
NM_032043.2(BRIP1):c.2562T>C (p.Ser854=) rs1555574734
NM_032043.2(BRIP1):c.2576-7T>A rs759408257
NM_032043.2(BRIP1):c.267A>T (p.Ala89=) rs764027029
NM_032043.2(BRIP1):c.2814A>G (p.Glu938=) rs1555573311
NM_032043.2(BRIP1):c.2883C>T (p.Ser961=) rs367728797
NM_032043.2(BRIP1):c.2906-8A>G rs1555573005
NM_032043.2(BRIP1):c.2907T>C (p.Asn969=) rs1555572999
NM_032043.2(BRIP1):c.294T>C (p.Asn98=) rs1555617859
NM_032043.2(BRIP1):c.3087T>C (p.Ser1029=) rs1555572848
NM_032043.2(BRIP1):c.3165C>T (p.Ser1055=) rs1447544706
NM_032043.2(BRIP1):c.3174G>C (p.Leu1058=) rs1555572806
NM_032043.2(BRIP1):c.3183C>T (p.Asn1061=) rs1555572792
NM_032043.2(BRIP1):c.3189G>A (p.Ser1063=) rs878855152
NM_032043.2(BRIP1):c.3225A>T (p.Ser1075=) rs1291039468
NM_032043.2(BRIP1):c.3279C>G (p.Leu1093=) rs1555572722
NM_032043.2(BRIP1):c.3504A>G (p.Lys1168=) rs1259866317
NM_032043.2(BRIP1):c.3552A>G (p.Glu1184=) rs1057522561
NM_032043.2(BRIP1):c.3579A>G (p.Thr1193=) rs1060504331
NM_032043.2(BRIP1):c.3741T>A (p.Gly1247=) rs1555572413
NM_032043.2(BRIP1):c.420T>C (p.Ala140=) rs1555616190
NM_032043.2(BRIP1):c.462T>C (p.Phe154=) rs1555616156
NM_032043.2(BRIP1):c.543C>T (p.His181=) rs1285947952
NM_032043.2(BRIP1):c.570A>G (p.Gly190=) rs1368897810
NM_032043.2(BRIP1):c.696C>T (p.Thr232=) rs772957320
NM_032043.2(BRIP1):c.786G>A (p.Glu262=) rs876658312
NM_032043.2(BRIP1):c.843T>C (p.His281=) rs1555609187
NM_032043.2(BRIP1):c.918+7A>G rs1060504329
NM_032043.2(BRIP1):c.919-10T>G rs748497834
NM_032043.2(BRIP1):c.921A>G (p.Gly307=) rs786202337
NM_032043.2(BRIP1):c.969C>T (p.His323=) rs1555607775
NM_032043.2(BRIP1):c.978G>A (p.Gln326=) rs1555607764
NM_032444.4(SLX4):c.1800G>A (p.Pro600=) rs777829533
NM_032444.4(SLX4):c.2055C>T (p.Val685=) rs775934995
NM_032444.4(SLX4):c.2181C>T (p.Ser727=) rs565391485
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val) rs149584080
NM_032444.4(SLX4):c.2748C>T (p.Ala916=) rs374815885
NM_032444.4(SLX4):c.2850G>A (p.Glu950=) rs751882942
NM_032444.4(SLX4):c.3012C>T (p.Pro1004=) rs533668167
NM_032444.4(SLX4):c.3108A>G (p.Leu1036=) rs751431046
NM_032444.4(SLX4):c.3438C>T (p.Asn1146=) rs78541095
NM_032444.4(SLX4):c.423G>A (p.Gly141=) rs111405249
NM_032444.4(SLX4):c.4347G>A (p.Leu1449=) rs373300793
NM_032444.4(SLX4):c.4371G>A (p.Arg1457=) rs745485209
NM_032444.4(SLX4):c.4383C>T (p.Ala1461=) rs556719111
NM_032444.4(SLX4):c.4716G>A (p.Pro1572=) rs372472816
NM_032444.4(SLX4):c.5106C>T (p.Ser1702=) rs1421905027
NM_032444.4(SLX4):c.5229G>A (p.Ser1743=) rs140231739
NM_032444.4(SLX4):c.5382G>A (p.Ser1794=) rs368848191
NM_032444.4(SLX4):c.5436C>T (p.Ala1812=) rs200473811
NM_033084.5(FANCD2):c.1134+10A>G rs758751922
NM_033084.5(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_033084.5(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.5(FANCD2):c.1311G>A (p.Ser437=) rs564577177
NM_033084.5(FANCD2):c.1470T>C (p.Asp490=) rs567183176
NM_033084.5(FANCD2):c.1675A>G (p.Ile559Val) rs201408009
NM_033084.5(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431
NM_033084.5(FANCD2):c.2495-4T>G rs1553612428
NM_033084.5(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_033084.5(FANCD2):c.538C>T (p.Leu180=) rs373835427
NM_033084.5(FANCD2):c.672C>T (p.His224=) rs371928644
NM_033084.5(FANCD2):c.813G>A (p.Ser271=) rs773072936
NM_058216.3(RAD51C):c.114C>T (p.Leu38=) rs786202265
NM_058216.3(RAD51C):c.207C>T (p.Leu69=) rs1057523582
NM_058216.3(RAD51C):c.225T>C (p.Tyr75=) rs1555593553
NM_058216.3(RAD51C):c.270T>C (p.Leu90=) rs1555593651
NM_058216.3(RAD51C):c.342A>G (p.Gly114=) rs1555593777
NM_058216.3(RAD51C):c.357A>G (p.Lys119=) rs863224434
NM_058216.3(RAD51C):c.405-8G>A rs1431351072
NM_058216.3(RAD51C):c.405T>C (p.Cys135=) rs537272666
NM_058216.3(RAD51C):c.477T>C (p.Asp159=) rs760436864
NM_058216.3(RAD51C):c.54G>T (p.Pro18=) rs1555591865
NM_058216.3(RAD51C):c.706-7T>C rs1555599087
NM_058216.3(RAD51C):c.717G>C (p.Val239=) rs1555599108
NM_058216.3(RAD51C):c.756A>G (p.Leu252=) rs863224437
NM_058216.3(RAD51C):c.837+7A>G rs1555599293
NM_058216.3(RAD51C):c.840A>G (p.Val280=) rs756503509
NM_058216.3(RAD51C):c.879T>C (p.Asn293=) rs1555602132
NM_058216.3(RAD51C):c.904+7A>C rs1555602171
NM_173472.2(FANCD2OS):c.*170G>A rs375929975
NM_173472.2(FANCD2OS):c.43+5302C>T rs145889419
NM_173472.2(FANCD2OS):c.44-7381A>T rs1168183069

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