ClinVar Miner

List of variants in gene FANCI reported as uncertain significance for Fanconi anemia complementation group A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 198
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HGVS dbSNP
NC_000015.10:g.(?_89290203)_(89291724_?)del
NM_001113378.1(FANCI):c.1102G>A (p.Val368Met) rs1060501897
NM_001113378.1(FANCI):c.1112+3A>G rs367970067
NM_001113378.1(FANCI):c.1250A>G (p.His417Arg) rs377227097
NM_001113378.1(FANCI):c.1264G>A (p.Gly422Arg) rs146040966
NM_001113378.1(FANCI):c.1311A>G (p.Arg437=) rs772846275
NM_001113378.1(FANCI):c.1399G>A (p.Val467Ile) rs199726965
NM_001113378.1(FANCI):c.1412C>G (p.Pro471Arg) rs139072231
NM_001113378.1(FANCI):c.1418T>G (p.Val473Gly) rs200007225
NM_001113378.1(FANCI):c.1420C>A (p.Leu474Ile) rs746777753
NM_001113378.1(FANCI):c.1531A>C (p.Met511Leu) rs1596285157
NM_001113378.1(FANCI):c.1556T>C (p.Leu519Pro) rs998713167
NM_001113378.1(FANCI):c.1564C>A (p.Arg522=) rs371568506
NM_001113378.1(FANCI):c.1564C>T (p.Arg522Trp) rs371568506
NM_001113378.1(FANCI):c.157+7A>G rs145165730
NM_001113378.1(FANCI):c.1654A>C (p.Ser552Arg) rs1060501899
NM_001113378.1(FANCI):c.1655G>A (p.Ser552Asn) rs1470686039
NM_001113378.1(FANCI):c.1656C>G (p.Ser552Arg) rs1060501901
NM_001113378.1(FANCI):c.1676G>T (p.Ser559Ile) rs1555446426
NM_001113378.1(FANCI):c.1699-3C>G rs372441627
NM_001113378.1(FANCI):c.1727A>G (p.Asn576Ser) rs573652425
NM_001113378.1(FANCI):c.1735G>A (p.Ala579Thr) rs147963936
NM_001113378.1(FANCI):c.1739A>G (p.Asn580Ser) rs866290050
NM_001113378.1(FANCI):c.1741G>A (p.Glu581Lys) rs768875486
NM_001113378.1(FANCI):c.1765G>A (p.Asp589Asn) rs374176569
NM_001113378.1(FANCI):c.179C>G (p.Ala60Gly) rs757018470
NM_001113378.1(FANCI):c.17T>C (p.Leu6Ser) rs369268726
NM_001113378.1(FANCI):c.1801G>A (p.Val601Ile) rs200007022
NM_001113378.1(FANCI):c.1810A>G (p.Met604Val) rs141879625
NM_001113378.1(FANCI):c.1850C>G (p.Ser617Cys) rs749295501
NM_001113378.1(FANCI):c.1867G>A (p.Val623Ile) rs1174201813
NM_001113378.1(FANCI):c.1891-3C>T rs371578898
NM_001113378.1(FANCI):c.1904A>G (p.Tyr635Cys) rs764435343
NM_001113378.1(FANCI):c.1972A>T (p.Ile658Phe) rs745308624
NM_001113378.1(FANCI):c.2017C>T (p.His673Tyr) rs763866498
NM_001113378.1(FANCI):c.2026G>T (p.Ala676Ser) rs756986642
NM_001113378.1(FANCI):c.2033A>G (p.Tyr678Cys) rs916935359
NM_001113378.1(FANCI):c.2063G>T (p.Gly688Val) rs778157971
NM_001113378.1(FANCI):c.2071G>A (p.Glu691Lys) rs144419129
NM_001113378.1(FANCI):c.2098G>A (p.Glu700Lys) rs199615501
NM_001113378.1(FANCI):c.2131A>T (p.Asn711Tyr) rs766073258
NM_001113378.1(FANCI):c.217A>T (p.Ile73Phe) rs138808921
NM_001113378.1(FANCI):c.2183A>G (p.Asp728Gly) rs752114490
NM_001113378.1(FANCI):c.2188T>C (p.Ser730Pro) rs1596304843
NM_001113378.1(FANCI):c.2203A>G (p.Ile735Val) rs377308647
NM_001113378.1(FANCI):c.2204T>C (p.Ile735Thr) rs911033971
NM_001113378.1(FANCI):c.2273T>G (p.Phe758Cys) rs750735931
NM_001113378.1(FANCI):c.2278A>G (p.Ile760Val) rs780410177
NM_001113378.1(FANCI):c.2300G>T (p.Arg767Met) rs1555447886
NM_001113378.1(FANCI):c.2318G>A (p.Ser773Asn) rs1192891263
NM_001113378.1(FANCI):c.2326A>G (p.Met776Val) rs150544323
NM_001113378.1(FANCI):c.2348A>G (p.Asp783Gly) rs1363536852
NM_001113378.1(FANCI):c.236G>A (p.Gly79Glu) rs1415605220
NM_001113378.1(FANCI):c.2393A>G (p.Asn798Ser) rs548409550
NM_001113378.1(FANCI):c.2434A>G (p.Ser812Gly) rs768500794
NM_001113378.1(FANCI):c.2455A>G (p.Arg819Gly) rs370996106
NM_001113378.1(FANCI):c.2507A>G (p.Asn836Ser) rs933284199
NM_001113378.1(FANCI):c.2519G>T (p.Arg840Leu) rs777483611
NM_001113378.1(FANCI):c.2520C>G (p.Arg840=) rs1210098933
NM_001113378.1(FANCI):c.2533G>A (p.Val845Ile) rs1596307741
NM_001113378.1(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419
NM_001113378.1(FANCI):c.2684C>T (p.Ser895Leu) rs762647324
NM_001113378.1(FANCI):c.2768A>G (p.Tyr923Cys) rs200907824
NM_001113378.1(FANCI):c.2776A>C (p.Lys926Gln) rs1596316742
NM_001113378.1(FANCI):c.2781T>G (p.Ile927Met) rs771106622
NM_001113378.1(FANCI):c.2813A>G (p.Asp938Gly) rs1060501898
NM_001113378.1(FANCI):c.2833G>C (p.Glu945Gln) rs142322239
NM_001113378.1(FANCI):c.2845G>A (p.Val949Ile) rs767462150
NM_001113378.1(FANCI):c.2849G>T (p.Ser950Ile) rs760327010
NM_001113378.1(FANCI):c.284T>A (p.Leu95Gln) rs201553891
NM_001113378.1(FANCI):c.288+3A>G rs538283826
NM_001113378.1(FANCI):c.290C>T (p.Ala97Val) rs1555442676
NM_001113378.1(FANCI):c.292C>T (p.His98Tyr) rs886051507
NM_001113378.1(FANCI):c.2936G>T (p.Ser979Ile) rs769453869
NM_001113378.1(FANCI):c.2960C>T (p.Thr987Met) rs138432305
NM_001113378.1(FANCI):c.2992C>T (p.Pro998Ser) rs182154506
NM_001113378.1(FANCI):c.3016A>G (p.Met1006Val) rs781108611
NM_001113378.1(FANCI):c.3053G>A (p.Ser1018Asn) rs773696866
NM_001113378.1(FANCI):c.3056G>A (p.Arg1019Gln) rs772401747
NM_001113378.1(FANCI):c.3186+3A>G rs371788349
NM_001113378.1(FANCI):c.3220A>T (p.Ile1074Leu) rs1450182027
NM_001113378.1(FANCI):c.3241G>A (p.Ala1081Thr) rs375746069
NM_001113378.1(FANCI):c.3255T>G (p.Cys1085Trp) rs755403672
NM_001113378.1(FANCI):c.326C>G (p.Ala109Gly) rs772968604
NM_001113378.1(FANCI):c.3283G>A (p.Val1095Ile) rs1596325131
NM_001113378.1(FANCI):c.329A>G (p.Asn110Ser) rs368987143
NM_001113378.1(FANCI):c.3310A>C (p.Thr1104Pro) rs768735814
NM_001113378.1(FANCI):c.3377C>G (p.Pro1126Arg) rs78234788
NM_001113378.1(FANCI):c.3379A>G (p.Asn1127Asp) rs878854179
NM_001113378.1(FANCI):c.3389T>A (p.Val1130Asp) rs764412863
NM_001113378.1(FANCI):c.3419C>T (p.Thr1140Ile) rs142969866
NM_001113378.1(FANCI):c.3428C>T (p.Thr1143Ile) rs772071601
NM_001113378.1(FANCI):c.3435C>G (p.Phe1145Leu) rs1344945720
NM_001113378.1(FANCI):c.3457C>G (p.Leu1153Val) rs368451326
NM_001113378.1(FANCI):c.3466G>C (p.Gly1156Arg) rs200026076
NM_001113378.1(FANCI):c.3473G>T (p.Cys1158Phe) rs199502679
NM_001113378.1(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917
NM_001113378.1(FANCI):c.3505A>T (p.Met1169Leu) rs757606290
NM_001113378.1(FANCI):c.3604G>C (p.Gly1202Arg) rs747326740
NM_001113378.1(FANCI):c.3652-6C>G rs752433847
NM_001113378.1(FANCI):c.3665G>A (p.Ser1222Asn) rs746232111
NM_001113378.1(FANCI):c.3674A>G (p.Tyr1225Cys) rs1351957141
NM_001113378.1(FANCI):c.3677C>T (p.Thr1226Met) rs367665900
NM_001113378.1(FANCI):c.3706G>A (p.Val1236Ile) rs377165815
NM_001113378.1(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734
NM_001113378.1(FANCI):c.3832C>T (p.His1278Tyr) rs776134519
NM_001113378.1(FANCI):c.3868A>G (p.Lys1290Glu) rs374908061
NM_001113378.1(FANCI):c.3886A>G (p.Met1296Val) rs765052471
NM_001113378.1(FANCI):c.3888G>A (p.Met1296Ile) rs777500700
NM_001113378.1(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330
NM_001113378.1(FANCI):c.3900G>C (p.Glu1300Asp) rs749756525
NM_001113378.1(FANCI):c.3908A>G (p.Glu1303Gly) rs1596343025
NM_001113378.1(FANCI):c.3918T>G (p.Asn1306Lys) rs561190476
NM_001113378.1(FANCI):c.394A>G (p.Ile132Val) rs749540937
NM_001113378.1(FANCI):c.406G>A (p.Ala136Thr) rs139181400
NM_001113378.1(FANCI):c.445G>A (p.Gly149Ser) rs763494935
NM_001113378.1(FANCI):c.467G>A (p.Cys156Tyr) rs112387610
NM_001113378.1(FANCI):c.475C>G (p.Gln159Glu) rs765463274
NM_001113378.1(FANCI):c.488C>A (p.Thr163Asn) rs574154974
NM_001113378.1(FANCI):c.504-3C>T rs1457153041
NM_001113378.1(FANCI):c.546-6C>T rs754929965
NM_001113378.1(FANCI):c.550G>C (p.Val184Leu) rs571745030
NM_001113378.1(FANCI):c.601A>G (p.Met201Val) rs774564150
NM_001113378.1(FANCI):c.793C>T (p.Arg265Cys) rs753511061
NM_001113378.1(FANCI):c.824T>C (p.Ile275Thr) rs142906652
NM_001113378.1(FANCI):c.83A>G (p.Asp28Gly) rs1060501902
NM_001113378.1(FANCI):c.905A>G (p.Asn302Ser) rs575416245
NM_001113378.1(FANCI):c.919C>T (p.Pro307Ser) rs769485443
NM_001113378.1(FANCI):c.92A>G (p.Asn31Ser) rs745341673
NM_001113378.1(FANCI):c.956T>C (p.Ile319Thr) rs1024430096
NM_001113378.2(FANCI):c.1113C>T (p.Ser371=)
NM_001113378.2(FANCI):c.1186A>G (p.Lys396Glu)
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile)
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val)
NM_001113378.2(FANCI):c.1417G>A (p.Val473Ile)
NM_001113378.2(FANCI):c.1465T>C (p.Ser489Pro)
NM_001113378.2(FANCI):c.1472T>C (p.Leu491Pro)
NM_001113378.2(FANCI):c.1489C>A (p.Gln497Lys)
NM_001113378.2(FANCI):c.1491A>C (p.Gln497His)
NM_001113378.2(FANCI):c.1513C>T (p.Pro505Ser)
NM_001113378.2(FANCI):c.1544A>G (p.Asp515Gly)
NM_001113378.2(FANCI):c.1639delinsGTTC (p.Phe547delinsValLeu)
NM_001113378.2(FANCI):c.1643A>C (p.Lys548Thr)
NM_001113378.2(FANCI):c.1703A>C (p.His568Pro)
NM_001113378.2(FANCI):c.2057A>G (p.Gln686Arg)
NM_001113378.2(FANCI):c.2096A>C (p.Tyr699Ser)
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile)
NM_001113378.2(FANCI):c.2200A>G (p.Ser734Gly)
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His)
NM_001113378.2(FANCI):c.22C>G (p.Leu8Val)
NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile)
NM_001113378.2(FANCI):c.2341C>A (p.Leu781Ile)
NM_001113378.2(FANCI):c.2366C>T (p.Ala789Val)
NM_001113378.2(FANCI):c.2390C>T (p.Ala797Val)
NM_001113378.2(FANCI):c.2398A>G (p.Thr800Ala)
NM_001113378.2(FANCI):c.2572C>G (p.His858Asp)
NM_001113378.2(FANCI):c.2602G>C (p.Glu868Gln)
NM_001113378.2(FANCI):c.2636+3A>G
NM_001113378.2(FANCI):c.2652A>C (p.Arg884Ser)
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala)
NM_001113378.2(FANCI):c.2693A>C (p.Lys898Thr)
NM_001113378.2(FANCI):c.2820_2852del (p.Glu940_Val951delinsAsp)
NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln)
NM_001113378.2(FANCI):c.304G>A (p.Gly102Arg)
NM_001113378.2(FANCI):c.3061G>T (p.Asp1021Tyr)
NM_001113378.2(FANCI):c.3064G>T (p.Ala1022Ser)
NM_001113378.2(FANCI):c.3166C>A (p.His1056Asn)
NM_001113378.2(FANCI):c.3171G>A (p.Leu1057=)
NM_001113378.2(FANCI):c.3172G>A (p.Gly1058Arg)
NM_001113378.2(FANCI):c.3187-3C>G
NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe)
NM_001113378.2(FANCI):c.3382C>G (p.Gln1128Glu)
NM_001113378.2(FANCI):c.3481A>G (p.Thr1161Ala)
NM_001113378.2(FANCI):c.3515C>T (p.Thr1172Ile)
NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg)
NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg)
NM_001113378.2(FANCI):c.362T>C (p.Leu121Pro)
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val)
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln)
NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys)
NM_001113378.2(FANCI):c.3906_3907inv (p.Glu1303Lys)
NM_001113378.2(FANCI):c.463G>A (p.Glu155Lys)
NM_001113378.2(FANCI):c.509A>T (p.Asp170Val)
NM_001113378.2(FANCI):c.571G>A (p.Val191Met)
NM_001113378.2(FANCI):c.623A>G (p.Gln208Arg)
NM_001113378.2(FANCI):c.649C>T (p.Leu217Phe)
NM_001113378.2(FANCI):c.746G>A (p.Ser249Asn)
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala)
NM_001113378.2(FANCI):c.811A>G (p.Ile271Val)
NM_001113378.2(FANCI):c.839A>G (p.Lys280Arg)
NM_001113378.2(FANCI):c.883-4C>G
NM_001113378.2(FANCI):c.911A>G (p.Asn304Ser)
NM_001113378.2(FANCI):c.933_935TCT[2] (p.Leu314del)
NM_018193.3(FANCI):c.1028_1030TCC[1] (p.Leu344del) rs770583031
NM_018193.3(FANCI):c.2066_2077AGGAGGAAGAGG[1] (p.Glu693_Glu696del) rs878854176
NM_018193.3(FANCI):c.2675_2689delinsTTG (p.Thr892_Phe897delinsIleVal) rs1555448946
NM_018193.3(FANCI):c.3636+17_3636+19del rs374324314
NM_018193.3(FANCI):c.669+17_669+18del rs751881445

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