ClinVar Miner

List of variants in gene FANCE studied for inherited aplastic anemia

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 606
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.249-35A>G rs7757405 0.74257
NM_021922.3(FANCE):c.900+39A>G rs13214239 0.42135
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_021922.3(FANCE):c.1316+19G>A rs6457823 0.14669
NM_021922.3(FANCE):c.*216del rs45584740 0.08934
NM_021922.3(FANCE):c.*151A>G rs16876572 0.05645
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_021922.3(FANCE):c.1071C>T (p.Leu357=) rs3823434 0.02388
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
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.266G>T (p.Arg89Leu) rs45600543 0.00083
NM_021922.3(FANCE):c.522G>A (p.Gly174=) rs145648734 0.00078
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln) rs45467798 0.00060
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.1316+10C>T rs200479051 0.00021
NM_021922.3(FANCE):c.970-16C>T rs117779586 0.00021
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.903G>C (p.Gly301=) rs781287698 0.00013
NM_021922.3(FANCE):c.926C>T (p.Pro309Leu) rs151020666 0.00012
NM_021922.3(FANCE):c.559G>A (p.Glu187Lys) rs142746353 0.00010
NM_021922.3(FANCE):c.1317-11C>T rs147572271 0.00009
NM_021922.3(FANCE):c.1588G>A (p.Ala530Thr) rs377415237 0.00009
NM_021922.3(FANCE):c.856-5C>T rs749252957 0.00009
NM_021922.3(FANCE):c.1238-10C>T rs765940689 0.00008
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg) rs200083899 0.00008
NM_021922.3(FANCE):c.1464C>T (p.Ala488=) rs779775366 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.1062T>C (p.Asp354=) rs377505032 0.00006
NM_021922.3(FANCE):c.1278G>A (p.Met426Ile) rs758380315 0.00006
NM_021922.3(FANCE):c.1509+8T>C rs562092952 0.00006
NM_021922.3(FANCE):c.1608C>G (p.Pro536=) rs370301848 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.901-20C>T rs754828130 0.00006
NM_021922.3(FANCE):c.954A>G (p.Glu318=) rs149719310 0.00006
NM_021922.3(FANCE):c.970-17C>A rs758179752 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.861G>A (p.Gln287=) rs772248459 0.00005
NM_021922.3(FANCE):c.1027C>T (p.Arg343Trp) rs567313440 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_021922.3(FANCE):c.1189C>A (p.Pro397Thr) rs759782690 0.00004
NM_021922.3(FANCE):c.1238-13G>C rs756557647 0.00004
NM_021922.3(FANCE):c.1509C>T (p.Asn503=) rs147166240 0.00004
NM_021922.3(FANCE):c.312C>T (p.Ala104=) rs575747751 0.00004
NM_021922.3(FANCE):c.356A>C (p.Gln119Pro) rs781123077 0.00004
NM_021922.3(FANCE):c.499C>T (p.Leu167=) rs140563583 0.00004
NM_021922.3(FANCE):c.856-11C>G rs756018135 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.1086G>C (p.Val362=) rs146571065 0.00003
NM_021922.3(FANCE):c.1092C>T (p.Thr364=) rs776318917 0.00003
NM_021922.3(FANCE):c.1196G>A (p.Cys399Tyr) rs1365782479 0.00003
NM_021922.3(FANCE):c.1200C>T (p.Ser400=) rs752689765 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.1509+19T>C rs760565814 0.00003
NM_021922.3(FANCE):c.329C>T (p.Pro110Leu) rs371485747 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.1237+8T>A rs1767499963 0.00002
NM_021922.3(FANCE):c.1316+18C>T rs768893669 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.1510-12C>G rs747704642 0.00002
NM_021922.3(FANCE):c.399C>T (p.Leu133=) rs1056749845 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.970-15G>A rs369631267 0.00002
NM_021922.3(FANCE):c.981G>A (p.Leu327=) rs772385794 0.00002
NM_021922.3(FANCE):c.*401G>C rs886061333 0.00001
NM_021922.3(FANCE):c.1017C>T (p.Leu339=) rs1277513595 0.00001
NM_021922.3(FANCE):c.1034G>A (p.Cys345Tyr) rs1007410805 0.00001
NM_021922.3(FANCE):c.1053T>G (p.Leu351=) rs755165473 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.1221C>T (p.Leu407=) rs752130850 0.00001
NM_021922.3(FANCE):c.1237+20C>G rs755688409 0.00001
NM_021922.3(FANCE):c.1238-1G>C rs1767507722 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.1384-14C>T rs558453150 0.00001
NM_021922.3(FANCE):c.1384-5T>C rs777064305 0.00001
NM_021922.3(FANCE):c.1395C>T (p.Thr465=) rs770219946 0.00001
NM_021922.3(FANCE):c.1501C>G (p.Gln501Glu) rs746321808 0.00001
NM_021922.3(FANCE):c.1509+1G>A rs745877509 0.00001
NM_021922.3(FANCE):c.1510-1G>A rs772678337 0.00001
NM_021922.3(FANCE):c.1512C>A (p.Ile504=) rs760228323 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.1525A>C (p.Arg509=) rs1293230097 0.00001
NM_021922.3(FANCE):c.1573A>G (p.Lys525Glu) rs1256798501 0.00001
NM_021922.3(FANCE):c.1581G>A (p.Leu527=) rs757384407 0.00001
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln) rs749697038 0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter) rs752690798 0.00001
NM_021922.3(FANCE):c.275G>A (p.Arg92Gln) rs369035099 0.00001
NM_021922.3(FANCE):c.297del (p.Met99fs) rs754850404 0.00001
NM_021922.3(FANCE):c.324G>A (p.Ser108=) rs762826105 0.00001
NM_021922.3(FANCE):c.327G>C (p.Leu109=) rs1767304773 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.355C>T (p.Gln119Ter) rs121434505 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.466C>T (p.Leu156=) rs747537380 0.00001
NM_021922.3(FANCE):c.480C>T (p.Cys160=) rs45509302 0.00001
NM_021922.3(FANCE):c.495A>G (p.Gln165=) rs781480072 0.00001
NM_021922.3(FANCE):c.501A>G (p.Leu167=) rs769404523 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.540C>T (p.Ser180=) rs781691272 0.00001
NM_021922.3(FANCE):c.599G>A (p.Arg200His) rs150278839 0.00001
NM_021922.3(FANCE):c.621G>A (p.Glu207=) rs1195525206 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.693G>A (p.Lys231=) rs202207657 0.00001
NM_021922.3(FANCE):c.744A>G (p.Ala248=) rs774688796 0.00001
NM_021922.3(FANCE):c.763C>A (p.Pro255Thr) rs766901564 0.00001
NM_021922.3(FANCE):c.786C>T (p.Gly262=) rs755421532 0.00001
NM_021922.3(FANCE):c.792C>T (p.Asp264=) rs758132363 0.00001
NM_021922.3(FANCE):c.798G>A (p.Ser266=) rs746542545 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.940C>T (p.Gln314Ter) rs760150539 0.00001
NM_021922.3(FANCE):c.951C>T (p.His317=) rs753841588 0.00001
NM_021922.3(FANCE):c.969+16T>G rs780283194 0.00001
NM_021922.3(FANCE):c.970-18C>G rs1376629458 0.00001
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp) rs779336261 0.00001
NM_021922.3(FANCE):c.993G>A (p.Leu331=) rs1358873070 0.00001
NM_021922.3(FANCE):c.998T>C (p.Leu333Pro) rs770592868 0.00001
NM_021922.3(FANCE):c.999C>T (p.Leu333=) rs776082827 0.00001
NC_000006.11:g.(?_35420323)_(35420590_?)del
NC_000006.11:g.(?_35420323)_(35424150_?)dup
NC_000006.11:g.(?_35420323)_(35434122_?)dup
NC_000006.11:g.(?_35423579)_(35424285_?)del
NC_000006.11:g.(?_35423579)_35424285del
NC_000006.11:g.(?_35428309)_(35430711_?)del
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.1003C>T (p.Gln335Ter)
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.1023C>T (p.Leu341=) rs1767435236
NM_021922.3(FANCE):c.1029G>A (p.Arg343=)
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.1037C>T (p.Thr346Ile)
NM_021922.3(FANCE):c.1041G>A (p.Trp347Ter)
NM_021922.3(FANCE):c.1043T>C (p.Leu348Pro)
NM_021922.3(FANCE):c.1044G>A (p.Leu348=)
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.1067G>A (p.Ser356Asn)
NM_021922.3(FANCE):c.1068C>T (p.Ser356=)
NM_021922.3(FANCE):c.1076A>G (p.Asn359Ser)
NM_021922.3(FANCE):c.1080T>C (p.Ala360=)
NM_021922.3(FANCE):c.1081A>G (p.Thr361Ala)
NM_021922.3(FANCE):c.1087C>T (p.Leu363=)
NM_021922.3(FANCE):c.1094G>A (p.Arg365Lys) rs1767440781
NM_021922.3(FANCE):c.1096del (p.Ser366fs) rs1272613429
NM_021922.3(FANCE):c.1113+10T>C
NM_021922.3(FANCE):c.1113+11T>C
NM_021922.3(FANCE):c.1113+12G>A
NM_021922.3(FANCE):c.1113+15A>T
NM_021922.3(FANCE):c.1113+1G>A rs2150895088
NM_021922.3(FANCE):c.1113+20C>T
NM_021922.3(FANCE):c.1113+2T>A
NM_021922.3(FANCE):c.1113+6T>C rs764119752
NM_021922.3(FANCE):c.1114-11G>T
NM_021922.3(FANCE):c.1114-16T>G rs2150896195
NM_021922.3(FANCE):c.1114-17C>T
NM_021922.3(FANCE):c.1114-17del
NM_021922.3(FANCE):c.1114-3T>C
NM_021922.3(FANCE):c.1114-3_1115delinsGGCA rs1767491456
NM_021922.3(FANCE):c.1120T>C (p.Ser374Pro) rs113175592
NM_021922.3(FANCE):c.1131C>A (p.Ser377=)
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.1141_1144del (p.Arg381fs) rs2150896309
NM_021922.3(FANCE):c.1145T>C (p.Leu382Pro) rs2150896332
NM_021922.3(FANCE):c.1155T>C (p.Thr385=)
NM_021922.3(FANCE):c.1158C>A (p.Ala386=)
NM_021922.3(FANCE):c.1164C>T (p.Thr388=) rs2150896392
NM_021922.3(FANCE):c.1176C>G (p.Ala392=) rs1581704152
NM_021922.3(FANCE):c.1176C>T (p.Ala392=)
NM_021922.3(FANCE):c.1182T>C (p.Tyr394=)
NM_021922.3(FANCE):c.1189C>G (p.Pro397Ala) rs759782690
NM_021922.3(FANCE):c.1189C>T (p.Pro397Ser)
NM_021922.3(FANCE):c.1195T>G (p.Cys399Gly)
NM_021922.3(FANCE):c.1199G>A (p.Ser400Asn)
NM_021922.3(FANCE):c.1203C>T (p.Ala401=)
NM_021922.3(FANCE):c.1204C>T (p.Leu402Phe) rs1256696675
NM_021922.3(FANCE):c.1206C>T (p.Leu402=)
NM_021922.3(FANCE):c.1213C>T (p.Pro405Ser)
NM_021922.3(FANCE):c.1221C>G (p.Leu407=) rs752130850
NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)
NM_021922.3(FANCE):c.1232G>A (p.Gly411Asp) rs1767499219
NM_021922.3(FANCE):c.1235C>T (p.Thr412Ile)
NM_021922.3(FANCE):c.1237+14C>T
NM_021922.3(FANCE):c.1237+18C>T
NM_021922.3(FANCE):c.1237+19C>A
NM_021922.3(FANCE):c.1237+1G>A
NM_021922.3(FANCE):c.1237+20C>T
NM_021922.3(FANCE):c.1237+7C>T
NM_021922.3(FANCE):c.1237G>A (p.Gly413Ser) rs757769907
NM_021922.3(FANCE):c.1238-13del
NM_021922.3(FANCE):c.1238-2A>C
NM_021922.3(FANCE):c.1239dup (p.Pro414fs) rs1561792535
NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs)
NM_021922.3(FANCE):c.1249A>C (p.Thr417Pro)
NM_021922.3(FANCE):c.1253_1254del (p.Glu418fs)
NM_021922.3(FANCE):c.1254G>A (p.Glu418=)
NM_021922.3(FANCE):c.1254G>C (p.Glu418Asp)
NM_021922.3(FANCE):c.1258C>T (p.Leu420=)
NM_021922.3(FANCE):c.1260G>T (p.Leu420=)
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.1266C>T (p.Cys422=)
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.1284C>G (p.Ser428=)
NM_021922.3(FANCE):c.1296T>C (p.Asp432=)
NM_021922.3(FANCE):c.1297G>A (p.Ala433Thr)
NM_021922.3(FANCE):c.1300C>T (p.Gln434Ter)
NM_021922.3(FANCE):c.1306_1307delinsAC (p.Leu436Thr)
NM_021922.3(FANCE):c.1313T>G (p.Leu438Arg) rs2150897316
NM_021922.3(FANCE):c.1316+13G>A
NM_021922.3(FANCE):c.1316+1G>T
NM_021922.3(FANCE):c.1316+20T>C rs2150897379
NM_021922.3(FANCE):c.1317-15G>A
NM_021922.3(FANCE):c.1317-18A>G
NM_021922.3(FANCE):c.1317-1G>A
NM_021922.3(FANCE):c.1317-7T>C
NM_021922.3(FANCE):c.1317-9G>A
NM_021922.3(FANCE):c.1319A>G (p.Gln440Arg)
NM_021922.3(FANCE):c.1327G>A (p.Glu443Lys)
NM_021922.3(FANCE):c.1332G>A (p.Leu444=)
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.1344G>A (p.Glu448=)
NM_021922.3(FANCE):c.1353C>G (p.Phe451Leu)
NM_021922.3(FANCE):c.1353C>T (p.Phe451=) rs2150898463
NM_021922.3(FANCE):c.1354T>C (p.Leu452=)
NM_021922.3(FANCE):c.1357G>T (p.Val453Leu)
NM_021922.3(FANCE):c.1359G>A (p.Val453=)
NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter)
NM_021922.3(FANCE):c.1363del (p.Gln455fs) rs1767552099
NM_021922.3(FANCE):c.1371C>T (p.Leu457=)
NM_021922.3(FANCE):c.1372C>G (p.Leu458Val)
NM_021922.3(FANCE):c.1374A>G (p.Leu458=)
NM_021922.3(FANCE):c.1376A>G (p.Glu459Gly)
NM_021922.3(FANCE):c.1378C>G (p.Arg460Gly) rs200535245
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+10C>T rs1060504374
NM_021922.3(FANCE):c.1383+12G>T
NM_021922.3(FANCE):c.1383+13C>T
NM_021922.3(FANCE):c.1383+15C>G rs1426965534
NM_021922.3(FANCE):c.1383+16T>C
NM_021922.3(FANCE):c.1383+17G>A
NM_021922.3(FANCE):c.1383+17G>C
NM_021922.3(FANCE):c.1383+18G>C
NM_021922.3(FANCE):c.1383+20dup rs770300367
NM_021922.3(FANCE):c.1383+2T>C
NM_021922.3(FANCE):c.1383+6C>G rs763606597
NM_021922.3(FANCE):c.1383+8G>C
NM_021922.3(FANCE):c.1383G>A (p.Gln461=)
NM_021922.3(FANCE):c.1384-10A>T rs2150901325
NM_021922.3(FANCE):c.1384-16C>A
NM_021922.3(FANCE):c.1384-19C>T
NM_021922.3(FANCE):c.1390A>G (p.Met464Val)
NM_021922.3(FANCE):c.1392G>A (p.Met464Ile)
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.1398T>C (p.Pro466=)
NM_021922.3(FANCE):c.1404G>T (p.Lys468Asn)
NM_021922.3(FANCE):c.1413C>T (p.Val471=)
NM_021922.3(FANCE):c.1417dup (p.Met473fs)
NM_021922.3(FANCE):c.1428C>T (p.Leu476=)
NM_021922.3(FANCE):c.1432A>G (p.Lys478Glu) rs1242729665
NM_021922.3(FANCE):c.1436_1437del (p.Lys479fs)
NM_021922.3(FANCE):c.1437G>A (p.Lys479=)
NM_021922.3(FANCE):c.1440G>T (p.Gly480=) rs757745455
NM_021922.3(FANCE):c.1452C>G (p.Thr484=)
NM_021922.3(FANCE):c.1452C>T (p.Thr484=)
NM_021922.3(FANCE):c.1455C>T (p.Thr485=)
NM_021922.3(FANCE):c.1459A>G (p.Met487Val) rs373735272
NM_021922.3(FANCE):c.1463C>T (p.Ala488Val)
NM_021922.3(FANCE):c.1464C>G (p.Ala488=)
NM_021922.3(FANCE):c.1466A>G (p.Tyr489Cys)
NM_021922.3(FANCE):c.1466A>T (p.Tyr489Phe) rs1345207143
NM_021922.3(FANCE):c.1476C>T (p.Leu492=)
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.1488G>A (p.Val496=)
NM_021922.3(FANCE):c.1494C>T (p.Thr498=)
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+13A>G
NM_021922.3(FANCE):c.1509+14G>A
NM_021922.3(FANCE):c.1509+14G>C
NM_021922.3(FANCE):c.1509+16G>T rs2150901703
NM_021922.3(FANCE):c.1509+17C>A rs748424208
NM_021922.3(FANCE):c.1509+3G>A rs773938335
NM_021922.3(FANCE):c.1509+7A>G rs1021695027
NM_021922.3(FANCE):c.1509+8T>G
NM_021922.3(FANCE):c.1510-10T>G
NM_021922.3(FANCE):c.1510-13T>A
NM_021922.3(FANCE):c.1510-15T>C
NM_021922.3(FANCE):c.1510-17T>C
NM_021922.3(FANCE):c.1510-6C>T
NM_021922.3(FANCE):c.1510-9T>C rs369210475
NM_021922.3(FANCE):c.1512C>T (p.Ile504=)
NM_021922.3(FANCE):c.1515T>C (p.Thr505=)
NM_021922.3(FANCE):c.1518G>A (p.Glu506=)
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.1536_1554dup (p.Asn519delinsGlyTyrGlyProArgThrTer)
NM_021922.3(FANCE):c.1556A>C (p.Asn519Thr) rs373712711
NM_021922.3(FANCE):c.1559C>A (p.Thr520Asn)
NM_021922.3(FANCE):c.1582A>C (p.Lys528Gln) rs767896075
NM_021922.3(FANCE):c.1587C>T (p.Ala529=)
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.1600T>C (p.Leu534=)
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.1608C>T (p.Pro536=)
NM_021922.3(FANCE):c.1608_1609del (p.Ter537ThrextTer?) rs1767835895
NM_021922.3(FANCE):c.249-11C>A
NM_021922.3(FANCE):c.249-11C>G
NM_021922.3(FANCE):c.249-18T>C
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.259T>C (p.Leu87=)
NM_021922.3(FANCE):c.265C>A (p.Arg89=)
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.273C>T (p.Pro91=)
NM_021922.3(FANCE):c.277A>T (p.Ile93Leu) rs1767301656
NM_021922.3(FANCE):c.291C>A (p.Asn97Lys)
NM_021922.3(FANCE):c.299C>T (p.Ser100Phe)
NM_021922.3(FANCE):c.304C>T (p.Leu102=)
NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG rs2150889955
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.317G>A (p.Arg106Gln)
NM_021922.3(FANCE):c.318G>A (p.Arg106=)
NM_021922.3(FANCE):c.325C>T (p.Leu109=)
NM_021922.3(FANCE):c.334del (p.Ser112fs) rs1479445348
NM_021922.3(FANCE):c.339del (p.Leu114fs)
NM_021922.3(FANCE):c.341T>C (p.Leu114Pro)
NM_021922.3(FANCE):c.341_342delinsCT (p.Leu114Pro)
NM_021922.3(FANCE):c.342C>T (p.Leu114=)
NM_021922.3(FANCE):c.345C>T (p.Leu115=)
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
NM_021922.3(FANCE):c.351G>A (p.Val117=)
NM_021922.3(FANCE):c.358A>G (p.Ile120Val) rs201961713
NM_021922.3(FANCE):c.363C>G (p.Ala121=)
NM_021922.3(FANCE):c.371A>G (p.Asp124Gly)
NM_021922.3(FANCE):c.373C>T (p.Leu125=)
NM_021922.3(FANCE):c.379C>G (p.Pro127Ala)
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
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.388G>A (p.Asp130Asn)
NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)
NM_021922.3(FANCE):c.398T>C (p.Leu133Pro)
NM_021922.3(FANCE):c.405C>T (p.Ala135=) rs1767311517
NM_021922.3(FANCE):c.413A>G (p.Glu138Gly)
NM_021922.3(FANCE):c.415T>C (p.Leu139=)
NM_021922.3(FANCE):c.417G>T (p.Leu139Phe)
NM_021922.3(FANCE):c.421C>A (p.Arg141=)
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.422G>A (p.Arg141Gln)
NM_021922.3(FANCE):c.426G>A (p.Arg142=)
NM_021922.3(FANCE):c.429T>G (p.Asp143Glu)
NM_021922.3(FANCE):c.430T>C (p.Leu144=) rs1377892215
NM_021922.3(FANCE):c.435G>C (p.Gly145=)
NM_021922.3(FANCE):c.436del (p.Val146fs) rs1767313373
NM_021922.3(FANCE):c.438G>A (p.Val146=)
NM_021922.3(FANCE):c.440G>A (p.Gly147Glu) rs1220564322
NM_021922.3(FANCE):c.444C>G (p.Thr148=)
NM_021922.3(FANCE):c.447C>G (p.Ser149=)
NM_021922.3(FANCE):c.448A>G (p.Met150Val) rs1489457999
NM_021922.3(FANCE):c.456A>C (p.Gly152=)
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.465A>G (p.Pro155=)
NM_021922.3(FANCE):c.465A>T (p.Pro155=)
NM_021922.3(FANCE):c.466_482del (p.Leu156fs)
NM_021922.3(FANCE):c.469T>C (p.Ser157Pro)
NM_021922.3(FANCE):c.477A>G (p.Arg159=)
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.505del (p.Arg169fs)
NM_021922.3(FANCE):c.518dup (p.Arg176fs)
NM_021922.3(FANCE):c.519G>A (p.Leu173=)
NM_021922.3(FANCE):c.519G>C (p.Leu173=)
NM_021922.3(FANCE):c.519G>T (p.Leu173=)
NM_021922.3(FANCE):c.521G>T (p.Gly174Val) rs1014679374
NM_021922.3(FANCE):c.524del (p.Gly175fs) rs773363446
NM_021922.3(FANCE):c.524dup (p.Arg176fs) rs773363446
NM_021922.3(FANCE):c.525C>T (p.Gly175=)
NM_021922.3(FANCE):c.531G>A (p.Arg177=)
NM_021922.3(FANCE):c.538del (p.Ser180fs)
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.543C>G (p.Pro181=)
NM_021922.3(FANCE):c.551C>A (p.Pro184Gln) rs373268808
NM_021922.3(FANCE):c.551C>T (p.Pro184Leu)
NM_021922.3(FANCE):c.552A>G (p.Pro184=)
NM_021922.3(FANCE):c.555C>A (p.Asp185Glu)
NM_021922.3(FANCE):c.560_568delinsGGACTCCAGACCC (p.Glu187fs)
NM_021922.3(FANCE):c.561A>G (p.Glu187=) rs1554121329
NM_021922.3(FANCE):c.562del (p.Glu188fs)
NM_021922.3(FANCE):c.564A>G (p.Glu188=)
NM_021922.3(FANCE):c.567G>A (p.Glu189=)
NM_021922.3(FANCE):c.590C>T (p.Pro197Leu) rs2150891086
NM_021922.3(FANCE):c.597A>G (p.Lys199=)
NM_021922.3(FANCE):c.600C>T (p.Arg200=)
NM_021922.3(FANCE):c.614_615del (p.Glu205fs)
NM_021922.3(FANCE):c.618A>G (p.Glu206=)
NM_021922.3(FANCE):c.619G>A (p.Glu207Lys)
NM_021922.3(FANCE):c.627C>G (p.Ala209=)
NM_021922.3(FANCE):c.635del (p.Glu212fs)
NM_021922.3(FANCE):c.636G>A (p.Glu212=)
NM_021922.3(FANCE):c.642G>A (p.Lys214=)
NM_021922.3(FANCE):c.654A>G (p.Lys218=)
NM_021922.3(FANCE):c.659T>G (p.Leu220Ter)
NM_021922.3(FANCE):c.663G>T (p.Arg221=)
NM_021922.3(FANCE):c.665G>A (p.Cys222Tyr)
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.702C>G (p.Pro234=)
NM_021922.3(FANCE):c.702C>T (p.Pro234=)
NM_021922.3(FANCE):c.703G>A (p.Glu235Lys)
NM_021922.3(FANCE):c.707A>G (p.His236Arg)
NM_021922.3(FANCE):c.711G>A (p.Lys237=)
NM_021922.3(FANCE):c.720A>G (p.Glu240=)
NM_021922.3(FANCE):c.722C>T (p.Ser241Phe) rs933204286
NM_021922.3(FANCE):c.723C>T (p.Ser241=)
NM_021922.3(FANCE):c.726G>A (p.Leu242=)
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
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.752_754del (p.Ile251del)
NM_021922.3(FANCE):c.753_756dup (p.Asp253Ter)
NM_021922.3(FANCE):c.756G>A (p.Lys252=)
NM_021922.3(FANCE):c.759C>T (p.Asp253=) rs200243667
NM_021922.3(FANCE):c.768C>T (p.Val256=)
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)
NM_021922.3(FANCE):c.777T>G (p.Val259=)
NM_021922.3(FANCE):c.787G>A (p.Glu263Lys)
NM_021922.3(FANCE):c.789G>C (p.Glu263Asp)
NM_021922.3(FANCE):c.793G>A (p.Gly265Ser)
NM_021922.3(FANCE):c.797C>T (p.Ser266Leu)
NM_021922.3(FANCE):c.798G>T (p.Ser266=) rs746542545
NM_021922.3(FANCE):c.807T>C (p.Asp269=)
NM_021922.3(FANCE):c.812C>T (p.Ala271Val) rs1060501874
NM_021922.3(FANCE):c.813T>C (p.Ala271=)
NM_021922.3(FANCE):c.818G>T (p.Gly273Val) rs1468356265
NM_021922.3(FANCE):c.823G>A (p.Ala275Thr)
NM_021922.3(FANCE):c.830G>C (p.Ser277Thr)
NM_021922.3(FANCE):c.832T>C (p.Leu278=)
NM_021922.3(FANCE):c.836del (p.Glu279fs)
NM_021922.3(FANCE):c.838T>C (p.Leu280=)
NM_021922.3(FANCE):c.855+17A>T
NM_021922.3(FANCE):c.855+18C>G
NM_021922.3(FANCE):c.855+4C>G
NM_021922.3(FANCE):c.855+5T>C
NM_021922.3(FANCE):c.855+8G>A
NM_021922.3(FANCE):c.855+9G>A
NM_021922.3(FANCE):c.856-11C>T
NM_021922.3(FANCE):c.856-14G>T
NM_021922.3(FANCE):c.856-18C>T
NM_021922.3(FANCE):c.856-20G>T
NM_021922.3(FANCE):c.856-6C>T
NM_021922.3(FANCE):c.856-7T>C
NM_021922.3(FANCE):c.856-7_856-5del
NM_021922.3(FANCE):c.857A>G (p.Asp286Gly)
NM_021922.3(FANCE):c.875A>G (p.Gln292Arg) rs1767398617
NM_021922.3(FANCE):c.875_876del (p.Gln292fs)
NM_021922.3(FANCE):c.878A>G (p.Gln293Arg)
NM_021922.3(FANCE):c.879_880insT (p.Leu294fs)
NM_021922.3(FANCE):c.880C>T (p.Leu294=)
NM_021922.3(FANCE):c.880delinsTT (p.Leu294fs)
NM_021922.3(FANCE):c.892T>A (p.Leu298Met)
NM_021922.3(FANCE):c.897G>A (p.Glu299=) rs2150893491
NM_021922.3(FANCE):c.900+4A>T
NM_021922.3(FANCE):c.901-10G>A
NM_021922.3(FANCE):c.901-15G>C
NM_021922.3(FANCE):c.901-3del
NM_021922.3(FANCE):c.901-5C>A rs747168225
NM_021922.3(FANCE):c.901-5C>T
NM_021922.3(FANCE):c.901-6C>T
NM_021922.3(FANCE):c.901-7T>C rs2150893886
NM_021922.3(FANCE):c.903G>A (p.Gly301=) rs781287698
NM_021922.3(FANCE):c.907G>C (p.Glu303Gln) rs1470052853
NM_021922.3(FANCE):c.914T>A (p.Leu305Ter)
NM_021922.3(FANCE):c.927C>G (p.Pro309=) rs763403812
NM_021922.3(FANCE):c.927C>T (p.Pro309=)
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.929del (p.Pro310fs) rs587778337
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021922.3(FANCE):c.930A>G (p.Pro310=)
NM_021922.3(FANCE):c.931dup (p.Val311fs)
NM_021922.3(FANCE):c.937C>T (p.Leu313=) rs557021652
NM_021922.3(FANCE):c.949C>T (p.His317Tyr)
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.967C>T (p.Gln323Ter) rs1767417868
NM_021922.3(FANCE):c.968A>G (p.Gln323Arg) rs1034716031
NM_021922.3(FANCE):c.969+11A>T
NM_021922.3(FANCE):c.969+12T>A
NM_021922.3(FANCE):c.969+18C>T
NM_021922.3(FANCE):c.969+1G>A
NM_021922.3(FANCE):c.969+20T>A
NM_021922.3(FANCE):c.969+7C>T
NM_021922.3(FANCE):c.969+9A>C
NM_021922.3(FANCE):c.970-12C>T
NM_021922.3(FANCE):c.970-16C>G rs117779586
NM_021922.3(FANCE):c.970-18C>A rs1376629458
NM_021922.3(FANCE):c.970-18C>T
NM_021922.3(FANCE):c.970-20C>G rs765193137
NM_021922.3(FANCE):c.970-6A>G
NM_021922.3(FANCE):c.970-6A>T rs1206121566
NM_021922.3(FANCE):c.970-8G>A
NM_021922.3(FANCE):c.970-9T>G
NM_021922.3(FANCE):c.975C>T (p.Asp325=)
NM_021922.3(FANCE):c.976T>C (p.Leu326=)
NM_021922.3(FANCE):c.978G>T (p.Leu326Phe)
NM_021922.3(FANCE):c.981G>T (p.Leu327=) rs772385794
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.988C>T (p.Gln330Ter)
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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