ClinVar Miner

List of variants in gene FANCA reported as uncertain significance for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 272
Download table as spreadsheet
HGVS dbSNP
NM_000135.4(FANCA):c.1007-7C>G rs111271660
NM_000135.4(FANCA):c.1010C>G (p.Ser337Cys)
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413
NM_000135.4(FANCA):c.106_108del (p.Asn36del)
NM_000135.4(FANCA):c.1072C>G (p.Leu358Val) rs748337423
NM_000135.4(FANCA):c.1100G>A (p.Ser367Asn) rs764286584
NM_000135.4(FANCA):c.1102G>A (p.Ala368Thr)
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe)
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr) rs912838333
NM_000135.4(FANCA):c.1273G>C (p.Asp425His) rs1555561398
NM_000135.4(FANCA):c.1276A>G (p.Ser426Gly) rs985078327
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)
NM_000135.4(FANCA):c.1286C>T (p.Thr429Ile)
NM_000135.4(FANCA):c.1289C>T (p.Ala430Val) rs772567344
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met) rs1307948857
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys) rs367733447
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val)
NM_000135.4(FANCA):c.133G>A (p.Glu45Lys) rs142990858
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1360-16_1363dup rs1555556321
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr)
NM_000135.4(FANCA):c.1403A>G (p.Lys468Arg)
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met) rs761957732
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg)
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp)
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly) rs929925295
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys) rs748907151
NM_000135.4(FANCA):c.1471-12A>G rs9282684
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.1480C>T (p.Leu494Phe) rs1060501886
NM_000135.4(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer) rs878853661
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn)
NM_000135.4(FANCA):c.1558G>C (p.Asp520His) rs754123446
NM_000135.4(FANCA):c.1564A>G (p.Lys522Glu) rs1555554630
NM_000135.4(FANCA):c.1566+2C>T rs1316950815
NM_000135.4(FANCA):c.1567-11C>A rs34353618
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly) rs753229112
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met) rs148154682
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.1691T>C (p.Ile564Thr) rs769842591
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) rs1555581601
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val) rs145459403
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1777-15C>G rs371919426
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe) rs1060501885
NM_000135.4(FANCA):c.1796C>G (p.Ser599Cys)
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser)
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg)
NM_000135.4(FANCA):c.1843C>T (p.Pro615Ser)
NM_000135.4(FANCA):c.186T>A (p.Leu62=) rs1555580352
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly) rs146491000
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr)
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.189+12C>G rs753101174
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp) rs768520283
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1901-9T>G rs886052486
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe) rs776682683
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala) rs1555549412
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)
NM_000135.4(FANCA):c.2015-8del rs1567619964
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile)
NM_000135.4(FANCA):c.2090T>A (p.Val697Asp) rs777863668
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp) rs201672093
NM_000135.4(FANCA):c.209A>G (p.Lys70Arg) rs55692229
NM_000135.4(FANCA):c.2110C>G (p.Leu704Val) rs1555548507
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys) rs774565293
NM_000135.4(FANCA):c.2149A>G (p.Met717Val) rs766173155
NM_000135.4(FANCA):c.2151+4G>A
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly) rs886052485
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val) rs199938598
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) rs763187355
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.2239G>A (p.Ala747Thr) rs931143821
NM_000135.4(FANCA):c.2248G>A (p.Val750Met)
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe)
NM_000135.4(FANCA):c.2316+9C>T rs776301232
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008
NM_000135.4(FANCA):c.2413C>T (p.Pro805Ser)
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000135.4(FANCA):c.245G>C (p.Ser82Thr) rs1459045387
NM_000135.4(FANCA):c.2492_2494TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2505A>G (p.Lys835=) rs1555546563
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr) rs142869950
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.4(FANCA):c.2528A>G (p.Tyr843Cys) rs1567616244
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe) rs980582362
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val) rs878853662
NM_000135.4(FANCA):c.2594T>G (p.Ile865Ser) rs1331781220
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn) rs746889340
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-14A>C rs886052483
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2607G>C (p.Gln869His) rs1555545583
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130
NM_000135.4(FANCA):c.265C>T (p.His89Tyr) rs746125523
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn) rs1055448646
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) rs587778316
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr)
NM_000135.4(FANCA):c.2778+10C>T rs371786839
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2785T>C (p.Tyr929His) rs1567612427
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.4(FANCA):c.2800C>A (p.His934Asn) rs774871582
NM_000135.4(FANCA):c.2815A>G (p.Ile939Val)
NM_000135.4(FANCA):c.2826A>C (p.Glu942Asp) rs1217883878
NM_000135.4(FANCA):c.284-9G>C rs367672895
NM_000135.4(FANCA):c.2851C>A (p.Arg951=)
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu) rs779162871
NM_000135.4(FANCA):c.2904G>A (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val) rs773070418
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro) rs752735858
NM_000135.4(FANCA):c.2959G>T (p.Ala987Ser) rs752735858
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn) rs1060501883
NM_000135.4(FANCA):c.2975A>T (p.His992Leu) rs184007986
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg) rs1555540072
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln) rs750421982
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His) rs200022826
NM_000135.4(FANCA):c.3062T>G (p.Leu1021Trp) rs891626452
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser) rs773260958
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3149A>C (p.Glu1050Ala) rs954683462
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033
NM_000135.4(FANCA):c.3158G>A (p.Arg1053His) rs371351450
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) rs764893807
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171
NM_000135.4(FANCA):c.3193G>C (p.Val1065Leu)
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val) rs1419279017
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) rs776603588
NM_000135.4(FANCA):c.3240-3C>T rs1315428324
NM_000135.4(FANCA):c.3251G>A (p.Arg1084His)
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) rs779268656
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3349-3C>T rs373861415
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp) rs371208490
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del) rs1314042335
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro) rs977982480
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His) rs768851109
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.4(FANCA):c.3428T>G (p.Leu1143Arg) rs1188842855
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg) rs769824282
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.4(FANCA):c.3512T>C (p.Leu1171Pro)
NM_000135.4(FANCA):c.3514-13G>A rs200270574
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.4(FANCA):c.353C>T (p.Ala118Val)
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3611G>A (p.Arg1204Gln) rs770622823
NM_000135.4(FANCA):c.361G>A (p.Val121Met)
NM_000135.4(FANCA):c.3623G>A (p.Ser1208Asn) rs1351484293
NM_000135.4(FANCA):c.3623G>T (p.Ser1208Ile) rs1351484293
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218
NM_000135.4(FANCA):c.3652C>T (p.Pro1218Ser) rs1555535564
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser) rs773150877
NM_000135.4(FANCA):c.3686C>G (p.Ala1229Gly) rs1465548673
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val) rs545742908
NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val)
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr) rs886052481
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) rs769919783
NM_000135.4(FANCA):c.3703_3705CAA[1] (p.Gln1236del) rs1555535513
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del) rs1441710252
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658
NM_000135.4(FANCA):c.375C>T (p.Cys125=) rs199793463
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) rs750773229
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.386C>T (p.Ala129Val) rs577625130
NM_000135.4(FANCA):c.387G>A (p.Ala129=)
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu) rs774448881
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg) rs943773590
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly)
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) rs35566151
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu)
NM_000135.4(FANCA):c.542_543delinsTC (p.Ala181Val)
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996
NM_000135.4(FANCA):c.571G>T (p.Val191Leu)
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro) rs886052488
NM_000135.4(FANCA):c.596+5C>T
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.4(FANCA):c.627G>C (p.Trp209Cys)
NM_000135.4(FANCA):c.660G>C (p.Gln220His) rs1555571174
NM_000135.4(FANCA):c.661A>G (p.Met221Val) rs150924963
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu)
NM_000135.4(FANCA):c.679C>G (p.His227Asp) rs142580507
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn) rs148419748
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr) rs746814384
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487
NM_000135.4(FANCA):c.700A>G (p.Met234Val)
NM_000135.4(FANCA):c.701T>C (p.Met234Thr)
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys) rs760744752
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.761_763GAA[1] (p.Arg255del) rs555210441
NM_000135.4(FANCA):c.769G>A (p.Val257Met) rs777311234
NM_000135.4(FANCA):c.793-3C>G rs749688050
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.812A>C (p.Gln271Pro) rs762721928
NM_000135.4(FANCA):c.813G>C (p.Gln271His) rs773057753
NM_000135.4(FANCA):c.81G>A (p.Ala27=) rs150247726
NM_000135.4(FANCA):c.835G>T (p.Asp279Tyr) rs1555566625
NM_000135.4(FANCA):c.838G>A (p.Ala280Thr) rs1010833101
NM_000135.4(FANCA):c.839C>T (p.Ala280Val) rs767092317
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) rs185984960
NM_000135.4(FANCA):c.86G>T (p.Arg29Met)
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791
NM_000135.4(FANCA):c.881T>C (p.Ile294Thr) rs1555566545
NM_000135.4(FANCA):c.887G>C (p.Arg296Thr) rs878853667
NM_000135.4(FANCA):c.897C>G (p.Phe299Leu)
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn) rs1060501877
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn)
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377
NM_000135.4(FANCA):c.95G>C (p.Arg32Thr) rs770984577
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.