ClinVar Miner

List of variants in gene FANCA reported as likely benign for Fanconi anemia complementation group A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP
NM_000135.4(FANCA):c.1006+10G>A rs762536802
NM_000135.4(FANCA):c.1007-7C>G rs111271660
NM_000135.4(FANCA):c.1008A>G (p.Ala336=) rs1460026241
NM_000135.4(FANCA):c.1068C>G (p.Thr356=) rs1161525939
NM_000135.4(FANCA):c.1068C>T (p.Thr356=) rs1161525939
NM_000135.4(FANCA):c.1072C>T (p.Leu358=) rs748337423
NM_000135.4(FANCA):c.1135C>T (p.Leu379=) rs969577700
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1194C>T (p.Val398=) rs1158857420
NM_000135.4(FANCA):c.1203A>G (p.Pro401=) rs1180493781
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.135A>G (p.Glu45=) rs141820040
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1365C>T (p.Ser455=) rs897548553
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753
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.1471-8A>G rs374717514
NM_000135.4(FANCA):c.1494G>C (p.Leu498=) rs747718961
NM_000135.4(FANCA):c.1500_1501delinsTA (p.Gly501Ser) rs1598136992
NM_000135.4(FANCA):c.1536A>C (p.Ser512=) rs766580461
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) rs144118098
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068
NM_000135.4(FANCA):c.1614G>A (p.Gly538=) rs747421581
NM_000135.4(FANCA):c.1627-4C>A rs201163548
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361
NM_000135.4(FANCA):c.1695A>T (p.Pro565=) rs139181196
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.1734C>T (p.Tyr578=) rs762647468
NM_000135.4(FANCA):c.1740G>A (p.Val580=) rs1400163791
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) rs144704750
NM_000135.4(FANCA):c.1776+10C>T rs767506133
NM_000135.4(FANCA):c.1806G>A (p.Ala602=) rs550064744
NM_000135.4(FANCA):c.1815G>A (p.Glu605=) rs773613283
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338
NM_000135.4(FANCA):c.1860C>A (p.Thr620=) rs1041601770
NM_000135.4(FANCA):c.1872C>A (p.Ala624=) rs571449307
NM_000135.4(FANCA):c.189+7G>A rs369985388
NM_000135.4(FANCA):c.1901-10C>T rs766654290
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1971G>T (p.Leu657=) rs1343452026
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2015-5C>T rs780349960
NM_000135.4(FANCA):c.201A>G (p.Pro67=) rs775320466
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086
NM_000135.4(FANCA):c.2124G>A (p.Thr708=) rs201668358
NM_000135.4(FANCA):c.2172G>A (p.Thr724=) rs768851944
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.4(FANCA):c.2222+7G>A rs374312736
NM_000135.4(FANCA):c.2222+9G>A rs774316742
NM_000135.4(FANCA):c.2222+9G>C rs774316742
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.2316+9C>G rs776301232
NM_000135.4(FANCA):c.2317-8C>T rs753766357
NM_000135.4(FANCA):c.2322G>A (p.Pro774=) rs931091451
NM_000135.4(FANCA):c.2376T>C (p.Gly792=) rs756138062
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) rs147882314
NM_000135.4(FANCA):c.2478G>A (p.Thr826=) rs147283549
NM_000135.4(FANCA):c.2502G>A (p.Leu834=) rs770993950
NM_000135.4(FANCA):c.2504+8C>A rs529177917
NM_000135.4(FANCA):c.255C>A (p.Ala85=) rs780353222
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571
NM_000135.4(FANCA):c.2601+9A>T rs771837383
NM_000135.4(FANCA):c.2602-10T>C rs899604473
NM_000135.4(FANCA):c.2628C>A (p.Phe876Leu) rs368987148
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806
NM_000135.4(FANCA):c.2648T>A (p.Leu883His) rs879255256
NM_000135.4(FANCA):c.2778+10C>T rs371786839
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.4(FANCA):c.284-9G>A rs367672895
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.2981+4dup rs75004096
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616
NM_000135.4(FANCA):c.303A>G (p.Gln101=) rs199552612
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=) rs35402142
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346
NM_000135.4(FANCA):c.3223C>T (p.Leu1075=) rs751987951
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057
NM_000135.4(FANCA):c.324C>T (p.Pro108=) rs775822054
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3267C>T (p.Val1089=) rs994416299
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664
NM_000135.4(FANCA):c.3366C>T (p.His1122=) rs771815968
NM_000135.4(FANCA):c.3408+9C>G rs377702890
NM_000135.4(FANCA):c.3409-6C>G rs377428227
NM_000135.4(FANCA):c.3409-6C>T rs377428227
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.342C>T (p.Ala114=) rs777989691
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=) rs1266179547
NM_000135.4(FANCA):c.3504C>G (p.Thr1168=) rs371464360
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571
NM_000135.4(FANCA):c.3552G>A (p.Arg1184=) rs774029286
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304
NM_000135.4(FANCA):c.3626+7G>A rs933657325
NM_000135.4(FANCA):c.3627-7G>C rs1161905441
NM_000135.4(FANCA):c.3627-8T>G rs77877981
NM_000135.4(FANCA):c.3666G>A (p.Pro1222=) rs780031277
NM_000135.4(FANCA):c.3669C>T (p.Asp1223=) rs187074190
NM_000135.4(FANCA):c.3693C>T (p.His1231=) rs144524132
NM_000135.4(FANCA):c.3699G>A (p.Ala1233=) rs371798854
NM_000135.4(FANCA):c.3711C>G (p.Val1237=) rs776879032
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=) rs202107465
NM_000135.4(FANCA):c.378G>A (p.Thr126=) rs544680245
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586
NM_000135.4(FANCA):c.423G>A (p.Gln141=) rs1598190596
NM_000135.4(FANCA):c.522+9G>C rs113051956
NM_000135.4(FANCA):c.523-19GTTTT[2] rs755643283
NM_000135.4(FANCA):c.537T>G (p.Leu179=) rs749811331
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367
NM_000135.4(FANCA):c.561A>G (p.Val187=) rs1050053060
NM_000135.4(FANCA):c.582A>G (p.Gln194=) rs748517164
NM_000135.4(FANCA):c.596+6G>A rs369548513
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960
NM_000135.4(FANCA):c.603C>T (p.Pro201=) rs542064386
NM_000135.4(FANCA):c.60G>A (p.Arg20=) rs1321607523
NM_000135.4(FANCA):c.634A>C (p.Arg212=) rs754839730
NM_000135.4(FANCA):c.687C>T (p.Asp229=) rs1598177104
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850
NM_000135.4(FANCA):c.710-9G>A rs772864817
NM_000135.4(FANCA):c.754G>A (p.Asp252Asn) rs111944585
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.793-5G>T rs1461529538
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.801T>C (p.Val267=) rs55660936
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566
NM_000135.4(FANCA):c.87G>A (p.Arg29=) rs760787108
NM_000135.4(FANCA):c.888G>A (p.Arg296=) rs942855447
NM_000135.4(FANCA):c.894-10G>A rs751912856
NM_000135.4(FANCA):c.897C>T (p.Phe299=) rs765341703
NM_000135.4(FANCA):c.90C>G (p.Val30=) rs532713581
NM_000135.4(FANCA):c.918G>A (p.Thr306=) rs199634699
NM_000135.4(FANCA):c.924C>T (p.Gly308=) rs143255238
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000135.4(FANCA):c.948G>A (p.Leu316=) rs767146506

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