ClinVar Miner

List of variants in gene FANCI studied for Fanconi anemia, complementation group I

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Total variants: 179
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HGVS dbSNP
NM_001113378.1(FANCI):c.-90T>C rs559714713
NM_001113378.2(FANCI):c.-10A>G rs372076895
NM_001113378.2(FANCI):c.-23G>A rs886051506
NM_001113378.2(FANCI):c.-56T>C rs374177639
NM_001113378.2(FANCI):c.-72C>G rs886051505
NM_001113378.2(FANCI):c.100C>T (p.Gln34Ter)
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=) rs72762644
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) rs147873714
NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala)
NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly) rs149008055
NM_001113378.2(FANCI):c.1113-10G>C rs756650711
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile) rs76788798
NM_001113378.2(FANCI):c.1176A>T (p.Ser392=) rs201871288
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791
NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg) rs146040966
NM_001113378.2(FANCI):c.1264G>C (p.Gly422Arg) rs146040966
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val)
NM_001113378.2(FANCI):c.1294-8C>T rs16942931
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=) rs34405660
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=) rs201002833
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile) rs199726965
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg) rs139072231
NM_001113378.2(FANCI):c.1442T>G (p.Val481Gly)
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=) rs145349375
NM_001113378.2(FANCI):c.1512+3A>G rs760846523
NM_001113378.2(FANCI):c.157+78G>A rs963339667
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001113378.2(FANCI):c.1583+142C>T rs2053631453
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala) rs149223439
NM_001113378.2(FANCI):c.1635G>T (p.Lys545Asn)
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu) rs62020347
NM_001113378.2(FANCI):c.1698+15C>T rs9806604
NM_001113378.2(FANCI):c.1699-11C>T
NM_001113378.2(FANCI):c.1699-7C>A rs28446881
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg) rs555480773
NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn) rs2053765806
NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp) rs779310267
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) rs201037656
NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser) rs369268726
NM_001113378.2(FANCI):c.1801G>A (p.Val601Ile) rs200007022
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) rs551399966
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro) rs780031757
NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys) rs749295501
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln) rs151038616
NM_001113378.2(FANCI):c.1890+10A>G rs201954421
NM_001113378.2(FANCI):c.1890+3A>G rs886051510
NM_001113378.2(FANCI):c.1891-2A>G
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile) rs140965103
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=) rs150231327
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg) rs138026584
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys) rs143105092
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=) rs16942969
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser) rs2054115728
NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys) rs28378332
NM_001113378.2(FANCI):c.2071G>A (p.Glu691Lys) rs144419129
NM_001113378.2(FANCI):c.2169+12G>A rs886051512
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly) rs752114490
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile) rs757610698
NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val) rs377308647
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432
NM_001113378.2(FANCI):c.2248T>C (p.Cys750Arg) rs2054124504
NM_001113378.2(FANCI):c.2292-11G>C rs763570868
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu) rs754443451
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=) rs11857960
NM_001113378.2(FANCI):c.2406T>C (p.Asp802=) rs147934193
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231
NM_001113378.2(FANCI):c.2434A>G (p.Ser812Gly) rs768500794
NM_001113378.2(FANCI):c.2462G>A (p.Ser821Asn)
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser) rs933284199
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His) rs777483611
NM_001113378.2(FANCI):c.2572C>T (p.His858Tyr) rs1361710673
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu) rs199758631
NM_001113378.2(FANCI):c.25G>A (p.Ala9Thr)
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311
NM_001113378.2(FANCI):c.2646A>G (p.Leu882=) rs199627578
NM_001113378.2(FANCI):c.2669C>T (p.Thr890Ile)
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=) rs145665176
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001113378.2(FANCI):c.2768A>G (p.Tyr923Cys) rs200907824
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001113378.2(FANCI):c.2856T>A (p.Thr952=) rs368915464
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp) rs562503186
NM_001113378.2(FANCI):c.288+10C>T rs370505986
NM_001113378.2(FANCI):c.288+37G>A rs16942918
NM_001113378.2(FANCI):c.292C>T (p.His98Tyr) rs886051507
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met) rs138432305
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr) rs1194951081
NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser) rs182154506
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr) rs2052048258
NM_001113378.2(FANCI):c.3006+15A>C rs2159081
NM_001113378.2(FANCI):c.3006+3A>G rs1294973649
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939
NM_001113378.2(FANCI):c.3058+1G>A rs149464307
NM_001113378.2(FANCI):c.3058+4A>G rs2054616468
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=) rs34462132
NM_001113378.2(FANCI):c.3162C>T (p.His1054=) rs746204528
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met) rs191202700
NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=) rs767103109
NM_001113378.2(FANCI):c.3241G>A (p.Ala1081Thr) rs375746069
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala) rs886051513
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys) rs758575911
NM_001113378.2(FANCI):c.3350-88A>G rs2054700381
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val) rs377630829
NM_001113378.2(FANCI):c.3437_3455del (p.His1146fs) rs2054707218
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg) rs1043718711
NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val) rs368451326
NM_001113378.2(FANCI):c.3466G>C (p.Gly1156Arg) rs200026076
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917
NM_001113378.2(FANCI):c.349A>G (p.Arg117Gly) rs548947826
NM_001113378.2(FANCI):c.3521C>T (p.Thr1174Ile) rs757106031
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692
NM_001113378.2(FANCI):c.3537+3_3537+6del
NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=) rs964069381
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val) rs149763090
NM_001113378.2(FANCI):c.3592-12C>T rs2054775391
NM_001113378.2(FANCI):c.3592-8T>C rs185599057
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg) rs747326740
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=) rs766147964
NM_001113378.2(FANCI):c.3652-10A>G rs202231175
NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg) rs757964620
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=) rs116380142
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs)
NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=) rs765168059
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=) rs185771112
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val) rs2055029234
NM_001113378.2(FANCI):c.3721-15G>A rs552581027
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734
NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp) rs1229086339
NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met) rs749287934
NM_001113378.2(FANCI):c.3832C>T (p.His1278Tyr) rs776134519
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=) rs34557339
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330
NM_001113378.2(FANCI):c.3900G>C (p.Glu1300Asp) rs749756525
NM_001113378.2(FANCI):c.3901dup (p.Asp1301fs) rs2055186253
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) rs544848412
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr) rs112387610
NM_001113378.2(FANCI):c.528A>G (p.Gln176=) rs145939211
NM_001113378.2(FANCI):c.539T>C (p.Met180Thr) rs139834845
NM_001113378.2(FANCI):c.545+19C>T rs1981623
NM_001113378.2(FANCI):c.545+30G>A rs1981624
NM_001113378.2(FANCI):c.546-5C>T rs2052826764
NM_001113378.2(FANCI):c.546-6C>T rs754929965
NM_001113378.2(FANCI):c.557T>C (p.Leu186Pro) rs1370113722
NM_001113378.2(FANCI):c.5A>T (p.Asp2Val)
NM_001113378.2(FANCI):c.601A>G (p.Met201Val) rs774564150
NM_001113378.2(FANCI):c.606C>T (p.Phe202=) rs886051508
NM_001113378.2(FANCI):c.696A>T (p.Gly232=) rs2052856419
NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr) rs1254032261
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly) rs112932178
NM_001113378.2(FANCI):c.753C>T (p.Asp251=) rs151169233
NM_001113378.2(FANCI):c.756-25_756-19del rs2053061271
NM_001113378.2(FANCI):c.775G>A (p.Val259Met) rs2053062704
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) rs368711186
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) rs1210148997
NM_001113378.2(FANCI):c.868G>A (p.Val290Met) rs113772230
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser) rs769485443
NM_001113378.2(FANCI):c.976-13A>T rs145864790

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