ClinVar Miner

List of variants reported as uncertain significance for Fanconi anemia, complementation group I

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Total variants: 134
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HGVS dbSNP
NM_001113378.1(FANCI):c.-90T>C rs559714713
NM_001113378.2(FANCI):c.*614T>G rs886051521
NM_001113378.2(FANCI):c.*662C>G rs560246181
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.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.1176A>T (p.Ser392=) rs201871288
NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg) rs146040966
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val)
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.1491A>G (p.Gln497=) rs145349375
NM_001113378.2(FANCI):c.1512+3A>G rs760846523
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351
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.1699-11C>T
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.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.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.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser) rs2054115728
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.2292-11G>C rs763570868
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu) rs754443451
NM_001113378.2(FANCI):c.2406T>C (p.Asp802=) rs147934193
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.2519G>A (p.Arg840His) rs777483611
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu) rs199758631
NM_001113378.2(FANCI):c.25G>A (p.Ala9Thr)
NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419
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.2768A>G (p.Tyr923Cys) rs200907824
NM_001113378.2(FANCI):c.2856T>A (p.Thr952=) rs368915464
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp) rs562503186
NM_001113378.2(FANCI):c.288+10C>T rs370505986
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.3055C>T (p.Arg1019Trp) rs149167939
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.3400A>G (p.Ile1134Val) rs377630829
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.3499T>G (p.Cys1167Gly) rs61744917
NM_001113378.2(FANCI):c.349A>G (p.Arg117Gly) rs548947826
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.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.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.3896G>T (p.Arg1299Leu) rs138663330
NM_001113378.2(FANCI):c.3900G>C (p.Glu1300Asp) rs749756525
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) rs544848412
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys) rs1411317487
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.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.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.919C>T (p.Pro307Ser) rs769485443
NM_001113378.2(FANCI):c.976-13A>T rs145864790
NM_002693.3(POLG):c.*100G>A rs770839560
NM_002693.3(POLG):c.*122G>A rs886051517
NM_002693.3(POLG):c.*44G>C rs563185483
NM_002693.3(POLG):c.*49G>A rs758880377
NM_002693.3(POLG):c.*63A>G rs552236933
NM_002693.3(POLG):c.3644-116T>C rs777372106
NM_002693.3(POLG):c.3644-16T>C rs536522307
NM_002693.3(POLG):c.3644-184T>C rs115758754
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly) rs144346886

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