ClinVar Miner

List of variants in gene FANCE reported as uncertain significance for anemia

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 241
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_021922.3(FANCE):c.1510-11C>T rs189384185 0.00297
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr) rs142903218 0.00221
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser) rs145068586 0.00212
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg) rs149097636 0.00098
NM_021922.3(FANCE):c.696G>A (p.Glu232=) rs147356927 0.00098
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser) rs141268133 0.00059
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg) rs45524646 0.00032
NM_021922.3(FANCE):c.1116C>T (p.Ile372=) rs143234424 0.00027
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) rs139547269 0.00020
NM_021922.3(FANCE):c.1114-4G>A rs368422520 0.00019
NM_021922.3(FANCE):c.1591T>A (p.Leu531Met) rs147390386 0.00019
NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe) rs185230199 0.00016
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys) rs371020401 0.00014
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp) rs375195621 0.00013
NM_021922.3(FANCE):c.653A>G (p.Lys218Arg) rs148638909 0.00013
NM_021922.3(FANCE):c.926C>T (p.Pro309Leu) rs151020666 0.00012
NM_021922.3(FANCE):c.1317-11C>T rs147572271 0.00009
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg) rs200083899 0.00008
NM_021922.3(FANCE):c.311C>G (p.Ala104Gly) rs773580818 0.00007
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys) rs763151358 0.00007
NM_021922.3(FANCE):c.1588G>A (p.Ala530Thr) rs377415237 0.00006
NM_021922.3(FANCE):c.316C>T (p.Arg106Trp) rs759034838 0.00006
NM_021922.3(FANCE):c.524G>A (p.Gly175Asp) rs765538271 0.00006
NM_021922.3(FANCE):c.552A>C (p.Pro184=) rs138182352 0.00006
NM_021922.3(FANCE):c.559G>A (p.Glu187Lys) rs142746353 0.00006
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr) rs768911543 0.00005
NM_021922.3(FANCE):c.397C>T (p.Leu133Phe) rs759124595 0.00005
NM_021922.3(FANCE):c.656G>T (p.Arg219Ile) rs551170184 0.00005
NM_021922.3(FANCE):c.856-3C>T rs749111562 0.00005
NM_021922.3(FANCE):c.1027C>T (p.Arg343Trp) rs567313440 0.00004
NM_021922.3(FANCE):c.869G>A (p.Arg290Lys) rs747078723 0.00004
NM_021922.3(FANCE):c.952G>A (p.Glu318Lys) rs754914337 0.00004
NM_021922.3(FANCE):c.960T>A (p.Ser320Arg) rs201528578 0.00004
NM_021922.3(FANCE):c.983G>C (p.Cys328Ser) rs372935921 0.00004
NM_021922.3(FANCE):c.1189C>A (p.Pro397Thr) rs759782690 0.00003
NM_021922.3(FANCE):c.1196G>A (p.Cys399Tyr) rs1365782479 0.00003
NM_021922.3(FANCE):c.1316G>T (p.Gly439Val) rs776298967 0.00003
NM_021922.3(FANCE):c.1349C>T (p.Thr450Ile) rs201970876 0.00003
NM_021922.3(FANCE):c.329C>T (p.Pro110Leu) rs371485747 0.00003
NM_021922.3(FANCE):c.356A>C (p.Gln119Pro) rs781123077 0.00003
NM_021922.3(FANCE):c.457G>A (p.Ala153Thr) rs151276683 0.00003
NM_021922.3(FANCE):c.592G>A (p.Gly198Arg) rs747727711 0.00003
NM_021922.3(FANCE):c.*213T>A rs532782953 0.00002
NM_021922.3(FANCE):c.*322C>T rs559999264 0.00002
NM_021922.3(FANCE):c.1383+3G>A rs752468400 0.00002
NM_021922.3(FANCE):c.1489A>G (p.Met497Val) rs781338655 0.00002
NM_021922.3(FANCE):c.520G>C (p.Gly174Arg) rs767509954 0.00002
NM_021922.3(FANCE):c.656G>A (p.Arg219Lys) rs551170184 0.00002
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp) rs771767241 0.00002
NM_021922.3(FANCE):c.851T>C (p.Ile284Thr) rs370661452 0.00002
NM_021922.3(FANCE):c.855+6T>G rs1185107943 0.00002
NM_021922.3(FANCE):c.953_958del (p.Glu318_Ser320delinsGly) rs1475613789 0.00002
NM_021922.3(FANCE):c.*401G>C rs886061333 0.00001
NM_021922.3(FANCE):c.1034G>A (p.Cys345Tyr) rs1007410805 0.00001
NM_021922.3(FANCE):c.1112G>A (p.Arg371Gln) rs1351881430 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe) rs1236565765 0.00001
NM_021922.3(FANCE):c.1142G>A (p.Arg381His) rs374232967 0.00001
NM_021922.3(FANCE):c.1290G>T (p.Glu430Asp) rs886061331 0.00001
NM_021922.3(FANCE):c.1309A>G (p.Met437Val) rs746770705 0.00001
NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro) rs745685973 0.00001
NM_021922.3(FANCE):c.1356G>C (p.Leu452Phe) rs1488514330 0.00001
NM_021922.3(FANCE):c.1501C>G (p.Gln501Glu) rs746321808 0.00001
NM_021922.3(FANCE):c.1510-1G>A rs772678337 0.00001
NM_021922.3(FANCE):c.1517A>G (p.Glu506Gly) rs766291860 0.00001
NM_021922.3(FANCE):c.1520C>T (p.Thr507Ile) rs1413425638 0.00001
NM_021922.3(FANCE):c.1573A>G (p.Lys525Glu) rs1256798501 0.00001
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln) rs749697038 0.00001
NM_021922.3(FANCE):c.275G>A (p.Arg92Gln) rs369035099 0.00001
NM_021922.3(FANCE):c.328C>T (p.Pro110Ser) rs763968547 0.00001
NM_021922.3(FANCE):c.330G>A (p.Pro110=) rs757051494 0.00001
NM_021922.3(FANCE):c.338G>C (p.Gly113Ala) rs780304950 0.00001
NM_021922.3(FANCE):c.365A>T (p.Gln122Leu) rs1554121253 0.00001
NM_021922.3(FANCE):c.396G>T (p.Trp132Cys) rs866005940 0.00001
NM_021922.3(FANCE):c.400C>T (p.Arg134Cys) rs181761362 0.00001
NM_021922.3(FANCE):c.401G>A (p.Arg134His) rs774939689 0.00001
NM_021922.3(FANCE):c.436G>T (p.Val146Leu) rs755204532 0.00001
NM_021922.3(FANCE):c.449T>C (p.Met150Thr) rs752797466 0.00001
NM_021922.3(FANCE):c.502T>C (p.Cys168Arg) rs370057221 0.00001
NM_021922.3(FANCE):c.508G>T (p.Gly170Trp) rs748817910 0.00001
NM_021922.3(FANCE):c.533T>G (p.Leu178Trp) rs764017469 0.00001
NM_021922.3(FANCE):c.535A>C (p.Lys179Gln) rs751676807 0.00001
NM_021922.3(FANCE):c.599G>A (p.Arg200His) rs150278839 0.00001
NM_021922.3(FANCE):c.652A>G (p.Lys218Glu) rs370659315 0.00001
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln) rs777849670 0.00001
NM_021922.3(FANCE):c.685C>T (p.His229Tyr) rs142737128 0.00001
NM_021922.3(FANCE):c.763C>A (p.Pro255Thr) rs766901564 0.00001
NM_021922.3(FANCE):c.821T>C (p.Leu274Pro) rs376591931 0.00001
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe) rs886061329 0.00001
NM_021922.3(FANCE):c.938T>C (p.Leu313Pro) rs1767415225 0.00001
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp) rs779336261 0.00001
NM_021922.3(FANCE):c.998T>C (p.Leu333Pro) rs770592868 0.00001
NC_000006.11:g.(?_35420323)_(35424150_?)dup
NC_000006.11:g.(?_35420323)_(35434122_?)dup
NC_000006.11:g.(?_35428309)_(35434122_?)dup
NC_000006.11:g.(?_35430556)_(35434122_?)del
NM_021922.3(FANCE):c.*225T>C rs1767848319
NM_021922.3(FANCE):c.*63C>T rs1767839821
NM_021922.3(FANCE):c.*729A>G rs886061334
NM_021922.3(FANCE):c.1007T>C (p.Leu336Pro) rs886061330
NM_021922.3(FANCE):c.1014C>A (p.Asp338Glu)
NM_021922.3(FANCE):c.1018G>A (p.Gly340Ser)
NM_021922.3(FANCE):c.1031T>A (p.Leu344His) rs2150894790
NM_021922.3(FANCE):c.1036A>C (p.Thr346Pro) rs1767436675
NM_021922.3(FANCE):c.1043T>C (p.Leu348Pro)
NM_021922.3(FANCE):c.1049C>A (p.Ala350Asp)
NM_021922.3(FANCE):c.1051C>G (p.Leu351Val)
NM_021922.3(FANCE):c.1057C>G (p.Pro353Ala) rs878855070
NM_021922.3(FANCE):c.1058C>T (p.Pro353Leu) rs587778339
NM_021922.3(FANCE):c.1066A>G (p.Ser356Gly) rs1767439057
NM_021922.3(FANCE):c.1076A>G (p.Asn359Ser)
NM_021922.3(FANCE):c.1094G>A (p.Arg365Lys) rs1767440781
NM_021922.3(FANCE):c.1113+6T>C rs764119752
NM_021922.3(FANCE):c.1114-3T>C
NM_021922.3(FANCE):c.1120T>C (p.Ser374Pro) rs113175592
NM_021922.3(FANCE):c.1136C>G (p.Ala379Gly) rs1233194875
NM_021922.3(FANCE):c.1139C>T (p.Ser380Phe)
NM_021922.3(FANCE):c.1141C>G (p.Arg381Gly)
NM_021922.3(FANCE):c.1145T>C (p.Leu382Pro) rs2150896332
NM_021922.3(FANCE):c.1189C>G (p.Pro397Ala) rs759782690
NM_021922.3(FANCE):c.1195T>G (p.Cys399Gly)
NM_021922.3(FANCE):c.1204C>T (p.Leu402Phe) rs1256696675
NM_021922.3(FANCE):c.1232G>A (p.Gly411Asp) rs1767499219
NM_021922.3(FANCE):c.1237G>A (p.Gly413Ser) rs757769907
NM_021922.3(FANCE):c.1254G>C (p.Glu418Asp)
NM_021922.3(FANCE):c.1260_1268del (p.Cys421_Leu423del) rs2150897160
NM_021922.3(FANCE):c.1262G>A (p.Cys421Tyr) rs936988373
NM_021922.3(FANCE):c.1263T>C (p.Cys421=) rs747692546
NM_021922.3(FANCE):c.1270G>T (p.Val424Leu) rs2150897194
NM_021922.3(FANCE):c.1276A>G (p.Met426Val) rs764652720
NM_021922.3(FANCE):c.1283C>G (p.Ser428Cys)
NM_021922.3(FANCE):c.1297G>A (p.Ala433Thr)
NM_021922.3(FANCE):c.1313T>G (p.Leu438Arg) rs2150897316
NM_021922.3(FANCE):c.1319A>G (p.Gln440Arg)
NM_021922.3(FANCE):c.1336T>C (p.Trp446Arg) rs1554122137
NM_021922.3(FANCE):c.1343A>C (p.Glu448Ala) rs2150898436
NM_021922.3(FANCE):c.1353C>G (p.Phe451Leu)
NM_021922.3(FANCE):c.1357G>T (p.Val453Leu)
NM_021922.3(FANCE):c.1372C>G (p.Leu458Val)
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp) rs200535245
NM_021922.3(FANCE):c.1379G>A (p.Arg460Gln)
NM_021922.3(FANCE):c.1379G>T (p.Arg460Leu) rs541746126
NM_021922.3(FANCE):c.1383+6C>G rs763606597
NM_021922.3(FANCE):c.1390A>G (p.Met464Val)
NM_021922.3(FANCE):c.1392G>T (p.Met464Ile) rs759978029
NM_021922.3(FANCE):c.1394C>T (p.Thr465Ile) rs1767643426
NM_021922.3(FANCE):c.1404G>T (p.Lys468Asn)
NM_021922.3(FANCE):c.1432A>G (p.Lys478Glu) rs1242729665
NM_021922.3(FANCE):c.1459A>G (p.Met487Val) rs373735272
NM_021922.3(FANCE):c.1466A>T (p.Tyr489Phe) rs1345207143
NM_021922.3(FANCE):c.1478T>C (p.Met493Thr) rs979790377
NM_021922.3(FANCE):c.1484C>T (p.Thr495Ile) rs1442055811
NM_021922.3(FANCE):c.1486G>A (p.Val496Met) rs2150901627
NM_021922.3(FANCE):c.1497G>C (p.Lys499Asn) rs2150901647
NM_021922.3(FANCE):c.1501C>T (p.Gln501Ter) rs746321808
NM_021922.3(FANCE):c.1507A>T (p.Asn503Tyr) rs2150901658
NM_021922.3(FANCE):c.1509+3G>A rs773938335
NM_021922.3(FANCE):c.1519A>G (p.Thr507Ala)
NM_021922.3(FANCE):c.1528C>G (p.Leu510Val)
NM_021922.3(FANCE):c.1531G>T (p.Gly511Cys)
NM_021922.3(FANCE):c.1556A>C (p.Asn519Thr) rs373712711
NM_021922.3(FANCE):c.1582A>C (p.Lys528Gln) rs767896075
NM_021922.3(FANCE):c.1593G>A (p.Leu531=) rs886061332
NM_021922.3(FANCE):c.1594A>T (p.Lys532Ter)
NM_021922.3(FANCE):c.1598A>T (p.His533Leu)
NM_021922.3(FANCE):c.1606C>G (p.Pro536Ala) rs1060501873
NM_021922.3(FANCE):c.1607C>G (p.Pro536Arg) rs1767835596
NM_021922.3(FANCE):c.1608_1609del (p.Ter537ThrextTer?) rs1767835895
NM_021922.3(FANCE):c.249G>T (p.Leu83=)
NM_021922.3(FANCE):c.256C>G (p.Leu86Val)
NM_021922.3(FANCE):c.257T>C (p.Leu86Pro)
NM_021922.3(FANCE):c.266G>A (p.Arg89Gln) rs45600543
NM_021922.3(FANCE):c.266G>C (p.Arg89Pro) rs45600543
NM_021922.3(FANCE):c.277A>T (p.Ile93Leu) rs1767301656
NM_021922.3(FANCE):c.291C>A (p.Asn97Lys)
NM_021922.3(FANCE):c.313G>A (p.Val105Ile) rs373159305
NM_021922.3(FANCE):c.313G>C (p.Val105Leu) rs373159305
NM_021922.3(FANCE):c.371A>G (p.Asp124Gly)
NM_021922.3(FANCE):c.379C>G (p.Pro127Ala)
NM_021922.3(FANCE):c.387A>T (p.Pro129=) rs4713867
NM_021922.3(FANCE):c.387_388delinsCC (p.Asp130His) rs2150890289
NM_021922.3(FANCE):c.398T>C (p.Leu133Pro)
NM_021922.3(FANCE):c.413A>G (p.Glu138Gly)
NM_021922.3(FANCE):c.422G>A (p.Arg141Gln)
NM_021922.3(FANCE):c.440G>A (p.Gly147Glu) rs1220564322
NM_021922.3(FANCE):c.448A>G (p.Met150Val) rs1489457999
NM_021922.3(FANCE):c.461C>T (p.Ser154Phe) rs1016962570
NM_021922.3(FANCE):c.463C>G (p.Pro155Ala) rs2150890589
NM_021922.3(FANCE):c.463C>T (p.Pro155Ser) rs2150890589
NM_021922.3(FANCE):c.480C>A (p.Cys160Ter) rs45509302
NM_021922.3(FANCE):c.487C>A (p.Gln163Lys) rs1767316578
NM_021922.3(FANCE):c.491T>C (p.Leu164Pro) rs1767316710
NM_021922.3(FANCE):c.521G>T (p.Gly174Val) rs1014679374
NM_021922.3(FANCE):c.539C>G (p.Ser180Cys)
NM_021922.3(FANCE):c.541C>T (p.Pro181Ser)
NM_021922.3(FANCE):c.542C>T (p.Pro181Leu) rs1767323169
NM_021922.3(FANCE):c.551C>A (p.Pro184Gln) rs373268808
NM_021922.3(FANCE):c.590C>T (p.Pro197Leu) rs2150891086
NM_021922.3(FANCE):c.619G>A (p.Glu207Lys)
NM_021922.3(FANCE):c.677A>C (p.Glu226Ala) rs2150891378
NM_021922.3(FANCE):c.679G>A (p.Glu227Lys) rs1287242303
NM_021922.3(FANCE):c.691_693del (p.Lys231del) rs1767333988
NM_021922.3(FANCE):c.698G>A (p.Arg233Lys)
NM_021922.3(FANCE):c.703G>A (p.Glu235Lys)
NM_021922.3(FANCE):c.722C>T (p.Ser241Phe) rs933204286
NM_021922.3(FANCE):c.740G>A (p.Ser247Asn) rs1767336620
NM_021922.3(FANCE):c.742G>A (p.Ala248Thr) rs1330517530
NM_021922.3(FANCE):c.743C>T (p.Ala248Val) rs1767337048
NM_021922.3(FANCE):c.746C>T (p.Ser249Phe) rs1036490024
NM_021922.3(FANCE):c.751A>G (p.Ile251Val)
NM_021922.3(FANCE):c.787G>A (p.Glu263Lys)
NM_021922.3(FANCE):c.789G>C (p.Glu263Asp)
NM_021922.3(FANCE):c.797C>T (p.Ser266Leu)
NM_021922.3(FANCE):c.812C>T (p.Ala271Val) rs1060501874
NM_021922.3(FANCE):c.818G>T (p.Gly273Val) rs1468356265
NM_021922.3(FANCE):c.823G>A (p.Ala275Thr)
NM_021922.3(FANCE):c.855+4C>G
NM_021922.3(FANCE):c.875A>G (p.Gln292Arg) rs1767398617
NM_021922.3(FANCE):c.878A>G (p.Gln293Arg)
NM_021922.3(FANCE):c.892T>A (p.Leu298Met)
NM_021922.3(FANCE):c.901-5C>A rs747168225
NM_021922.3(FANCE):c.907G>C (p.Glu303Gln) rs1470052853
NM_021922.3(FANCE):c.928C>G (p.Pro310Ala)
NM_021922.3(FANCE):c.928C>T (p.Pro310Ser) rs372788363
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln) rs139600847
NM_021922.3(FANCE):c.929C>G (p.Pro310Arg) rs139600847
NM_021922.3(FANCE):c.929C>T (p.Pro310Leu) rs139600847
NM_021922.3(FANCE):c.937C>T (p.Leu313=) rs557021652
NM_021922.3(FANCE):c.956G>A (p.Cys319Tyr) rs1440691539
NM_021922.3(FANCE):c.959G>A (p.Ser320Asn) rs1767417019
NM_021922.3(FANCE):c.968A>G (p.Gln323Arg) rs1034716031
NM_021922.3(FANCE):c.970-6A>G
NM_021922.3(FANCE):c.970-6A>T rs1206121566
NM_021922.3(FANCE):c.983G>T (p.Cys328Phe)
NM_021922.3(FANCE):c.985G>A (p.Ala329Thr)
NM_021922.3(FANCE):c.988C>G (p.Gln330Glu) rs1263409404
NM_021922.3(FANCE):c.991C>G (p.Leu331Val) rs45468994
NM_021922.3(FANCE):c.992T>C (p.Leu331Pro)
NM_021922.3(FANCE):c.997C>T (p.Leu333Phe) rs2150894670

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