ClinVar Miner

List of variants studied for congenital primary aphakia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 287
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.510C>T (p.Ala170=) rs34082359 0.30139
NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala) rs566961335 0.01396
NM_012186.3(FOXE3):c.423G>A (p.Lys141=) rs145081583 0.01025
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn) rs765169217 0.00868
NM_012186.3(FOXE3):c.618C>G (p.Ala206=) rs189628587 0.00737
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala) rs281865461 0.00458
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly) rs552420470 0.00350
NM_012186.3(FOXE3):c.601G>A (p.Val201Met) rs530072475 0.00329
NM_012186.3(FOXE3):c.276C>T (p.Leu92=) rs143712915 0.00134
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_012186.3(FOXE3):c.158C>T (p.Pro53Leu) rs534479543 0.00050
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val) rs201955081 0.00044
NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg) rs560327746 0.00029
NM_012186.3(FOXE3):c.234G>A (p.Ala78=) rs201158701 0.00027
NM_012186.3(FOXE3):c.426C>T (p.Gly142=) rs1370214494 0.00025
NM_012186.3(FOXE3):c.831C>T (p.Gly277=) rs527783871 0.00025
NM_012186.3(FOXE3):c.405G>A (p.Glu135=) rs574859994 0.00021
NM_012186.3(FOXE3):c.240C>T (p.Ile80=) rs146608794 0.00020
NM_012186.3(FOXE3):c.466G>A (p.Asp156Asn) rs202086896 0.00020
NM_012186.3(FOXE3):c.828C>G (p.Pro276=) rs887265865 0.00019
NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter) rs80358194 0.00016
NM_012186.3(FOXE3):c.849T>C (p.Ala283=) rs911846788 0.00016
NM_012186.3(FOXE3):c.51T>C (p.Pro17=) rs548368038 0.00014
NM_012186.3(FOXE3):c.166G>A (p.Ala56Thr) rs916755482 0.00009
NM_012186.3(FOXE3):c.269G>T (p.Arg90Leu) rs371048362 0.00009
NM_012186.3(FOXE3):c.127G>A (p.Glu43Lys) rs1030716081 0.00008
NM_012186.3(FOXE3):c.604C>T (p.Pro202Ser) rs1213749118 0.00008
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_012186.3(FOXE3):c.882C>G (p.Ala294=) rs946810051 0.00007
NM_012186.3(FOXE3):c.192G>A (p.Arg64=) rs757496166 0.00006
NM_012186.3(FOXE3):c.457G>C (p.Asp153His) rs367943249 0.00006
NM_012186.3(FOXE3):c.813G>A (p.Leu271=) rs1003802007 0.00006
NM_012186.3(FOXE3):c.135G>A (p.Ala45=) rs886044273 0.00005
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) rs746531116 0.00005
NM_012186.3(FOXE3):c.287C>G (p.Ala96Gly) rs768651099 0.00004
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser) rs745571457 0.00004
NM_012186.3(FOXE3):c.404A>G (p.Glu135Gly) rs372281087 0.00004
NM_012186.3(FOXE3):c.537G>C (p.Ala179=) rs544902810 0.00004
NM_012186.3(FOXE3):c.585C>G (p.Pro195=) rs890514968 0.00004
NM_012186.3(FOXE3):c.605C>T (p.Pro202Leu) rs745950487 0.00004
NM_012186.3(FOXE3):c.61G>A (p.Ala21Thr) rs886379083 0.00004
NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser) rs112802909 0.00004
NM_012186.3(FOXE3):c.736G>A (p.Ala246Thr) rs921860618 0.00004
NM_012186.3(FOXE3):c.837C>T (p.Gly279=) rs752441939 0.00004
NM_012186.3(FOXE3):c.838C>T (p.Pro280Ser) rs994486517 0.00004
NM_012186.3(FOXE3):c.132G>A (p.Ala44=) rs1417103494 0.00003
NM_012186.3(FOXE3):c.282G>A (p.Leu94=) rs762854169 0.00003
NM_012186.3(FOXE3):c.378C>T (p.Asn126=) rs556872254 0.00003
NM_012186.3(FOXE3):c.492C>T (p.Arg164=) rs747963189 0.00003
NM_012186.3(FOXE3):c.625G>C (p.Gly209Arg) rs1226906213 0.00003
NM_012186.3(FOXE3):c.629C>G (p.Pro210Arg) rs780276474 0.00003
NM_012186.3(FOXE3):c.777G>A (p.Pro259=) rs1045485277 0.00003
NM_012186.3(FOXE3):c.106G>A (p.Glu36Lys) rs900562270 0.00002
NM_012186.3(FOXE3):c.191G>T (p.Arg64Leu) rs751816743 0.00002
NM_012186.3(FOXE3):c.19A>G (p.Met7Val) rs1300297197 0.00002
NM_012186.3(FOXE3):c.291C>G (p.Ile97Met) rs762006562 0.00002
NM_012186.3(FOXE3):c.340A>C (p.Lys114Gln) rs768674287 0.00002
NM_012186.3(FOXE3):c.415C>G (p.Pro139Ala) rs768612848 0.00002
NM_012186.3(FOXE3):c.542G>A (p.Gly181Glu) rs754614447 0.00002
NM_012186.3(FOXE3):c.543G>T (p.Gly181=) rs765016567 0.00002
NM_012186.3(FOXE3):c.566C>T (p.Ala189Val) rs777536289 0.00002
NM_012186.3(FOXE3):c.570C>T (p.Pro190=) rs1182253342 0.00002
NM_012186.3(FOXE3):c.632C>A (p.Ser211Ter) rs1035206433 0.00002
NM_012186.3(FOXE3):c.876G>A (p.Pro292=) rs1646890706 0.00002
NM_012186.3(FOXE3):c.91C>T (p.Pro31Ser) rs1037554225 0.00002
NM_012186.3(FOXE3):c.956T>A (p.Leu319Gln) rs1308848565 0.00002
NM_012186.3(FOXE3):c.114G>A (p.Gly38=) rs1305763469 0.00001
NM_012186.3(FOXE3):c.145G>C (p.Gly49Arg) rs958293767 0.00001
NM_012186.3(FOXE3):c.171C>A (p.Pro57=) rs1303056091 0.00001
NM_012186.3(FOXE3):c.181del (p.Arg61fs) rs1646883385 0.00001
NM_012186.3(FOXE3):c.183G>C (p.Arg61=) rs1646883402 0.00001
NM_012186.3(FOXE3):c.258C>T (p.His86=) rs1225853707 0.00001
NM_012186.3(FOXE3):c.324C>T (p.Tyr108=) rs370268389 0.00001
NM_012186.3(FOXE3):c.343_347del (p.Trp115fs) rs958241794 0.00001
NM_012186.3(FOXE3):c.371C>T (p.Thr124Met) rs773472430 0.00001
NM_012186.3(FOXE3):c.411C>A (p.Gly137=) rs536267128 0.00001
NM_012186.3(FOXE3):c.420C>T (p.Gly140=) rs1352061807 0.00001
NM_012186.3(FOXE3):c.431A>G (p.Tyr144Cys) rs747148416 0.00001
NM_012186.3(FOXE3):c.447C>G (p.Pro149=) rs1344716602 0.00001
NM_012186.3(FOXE3):c.489C>T (p.Arg163=) rs754808758 0.00001
NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro) rs1401137576 0.00001
NM_012186.3(FOXE3):c.579C>G (p.Pro193=) rs1174698590 0.00001
NM_012186.3(FOXE3):c.608C>A (p.Pro203Gln) rs1646887555 0.00001
NM_012186.3(FOXE3):c.624G>C (p.Pro208=) rs1400982636 0.00001
NM_012186.3(FOXE3):c.663C>G (p.Ser221Arg) rs1304716566 0.00001
NM_012186.3(FOXE3):c.701C>T (p.Ala234Val) rs1646888269 0.00001
NM_012186.3(FOXE3):c.711G>T (p.Pro237=) rs1177501502 0.00001
NM_012186.3(FOXE3):c.741C>T (p.Ala247=) rs1369565616 0.00001
NM_012186.3(FOXE3):c.763G>A (p.Ala255Thr) rs911732099 0.00001
NM_012186.3(FOXE3):c.796C>T (p.Pro266Ser) rs1170907926 0.00001
NM_012186.3(FOXE3):c.804C>T (p.Arg268=) rs1332275509 0.00001
NM_012186.3(FOXE3):c.819G>A (p.Ala273=) rs1035152511 0.00001
NM_012186.3(FOXE3):c.830G>A (p.Gly277Asp) rs1189285117 0.00001
NM_012186.3(FOXE3):c.851A>G (p.Glu284Gly) rs956520813 0.00001
NM_012186.3(FOXE3):c.854C>A (p.Pro285His) rs1184373895 0.00001
NM_012186.3(FOXE3):c.893C>T (p.Pro298Leu) rs1570406106 0.00001
NM_012186.3(FOXE3):c.925C>A (p.Pro309Thr) rs1085307504 0.00001
NM_012186.3(FOXE3):c.930C>T (p.Gly310=) rs963646314 0.00001
NC_000001.10:g.(?_47716808)_(47882947_?)dup
NC_000001.11:g.47416279_47416517del rs2124040836
NM_012186.3(FOXE3):c.101G>T (p.Gly34Val)
NM_012186.3(FOXE3):c.105C>T (p.Ala35=) rs1646882637
NM_012186.3(FOXE3):c.115C>A (p.Arg39=)
NM_012186.3(FOXE3):c.128A>C (p.Glu43Ala) rs886042841
NM_012186.3(FOXE3):c.131C>A (p.Ala44Glu)
NM_012186.3(FOXE3):c.134C>A (p.Ala45Glu)
NM_012186.3(FOXE3):c.134C>T (p.Ala45Val)
NM_012186.3(FOXE3):c.135_155del (p.Ala46_Ala52del) rs1415958869
NM_012186.3(FOXE3):c.138T>C (p.Ala46=) rs1031196506
NM_012186.3(FOXE3):c.144C>G (p.Arg48=) rs1646883029
NM_012186.3(FOXE3):c.145G>A (p.Gly49Arg)
NM_012186.3(FOXE3):c.145G>T (p.Gly49Ter)
NM_012186.3(FOXE3):c.148_170dup (p.Gly58fs) rs2124041750
NM_012186.3(FOXE3):c.150G>A (p.Glu50=)
NM_012186.3(FOXE3):c.151G>T (p.Ala51Ser) rs1366587048
NM_012186.3(FOXE3):c.163C>T (p.Pro55Ser)
NM_012186.3(FOXE3):c.165C>G (p.Pro55=)
NM_012186.3(FOXE3):c.167C>T (p.Ala56Val) rs2124041820
NM_012186.3(FOXE3):c.170C>G (p.Pro57Arg)
NM_012186.3(FOXE3):c.172G>C (p.Gly58Arg)
NM_012186.3(FOXE3):c.177G>C (p.Pro59=)
NM_012186.3(FOXE3):c.178G>T (p.Gly60Trp) rs1646883301
NM_012186.3(FOXE3):c.179GGC[5] (p.Arg65del)
NM_012186.3(FOXE3):c.179GGC[7] (p.Arg65dup) rs775343166
NM_012186.3(FOXE3):c.179GGC[8] (p.Arg65_Pro66insArgArg)
NM_012186.3(FOXE3):c.180G>A (p.Gly60=)
NM_012186.3(FOXE3):c.185G>C (p.Arg62Pro)
NM_012186.3(FOXE3):c.188G>C (p.Arg63Pro)
NM_012186.3(FOXE3):c.194G>C (p.Arg65Pro)
NM_012186.3(FOXE3):c.194G>T (p.Arg65Leu)
NM_012186.3(FOXE3):c.1A>T (p.Met1Leu)
NM_012186.3(FOXE3):c.204G>C (p.Gln68His) rs1646883579
NM_012186.3(FOXE3):c.214C>T (p.Pro72Ser)
NM_012186.3(FOXE3):c.217C>G (p.Pro73Ala)
NM_012186.3(FOXE3):c.21_24del (p.Met7fs) rs1464817302
NM_012186.3(FOXE3):c.222C>G (p.Tyr74Ter)
NM_012186.3(FOXE3):c.22G>C (p.Asp8His) rs1646882092
NM_012186.3(FOXE3):c.258C>G (p.His86Gln)
NM_012186.3(FOXE3):c.265G>A (p.Gly89Ser)
NM_012186.3(FOXE3):c.266G>A (p.Gly89Asp) rs1289511554
NM_012186.3(FOXE3):c.272G>A (p.Arg91His)
NM_012186.3(FOXE3):c.273C>T (p.Arg91=)
NM_012186.3(FOXE3):c.283G>T (p.Ala95Ser) rs2124042280
NM_012186.3(FOXE3):c.285C>G (p.Ala95=)
NM_012186.3(FOXE3):c.286G>A (p.Ala96Thr) rs2124042297
NM_012186.3(FOXE3):c.289A>G (p.Ile97Val) rs774505755
NM_012186.3(FOXE3):c.296G>A (p.Arg99His)
NM_012186.3(FOXE3):c.2del (p.Met1fs) rs2124041028
NM_012186.3(FOXE3):c.306C>T (p.Thr102=)
NM_012186.3(FOXE3):c.309A>G (p.Glu103=) rs2124042422
NM_012186.3(FOXE3):c.310C>A (p.Arg104Ser)
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) rs755377651
NM_012186.3(FOXE3):c.311G>C (p.Arg104Pro)
NM_012186.3(FOXE3):c.313T>C (p.Phe105Leu)
NM_012186.3(FOXE3):c.315T>C (p.Phe105=) rs2124042461
NM_012186.3(FOXE3):c.325C>T (p.Arg109Cys)
NM_012186.3(FOXE3):c.326G>A (p.Arg109His)
NM_012186.3(FOXE3):c.327C>A (p.Arg109=) rs2124042503
NM_012186.3(FOXE3):c.335C>A (p.Pro112Gln)
NM_012186.3(FOXE3):c.338G>C (p.Arg113Pro) rs779654261
NM_012186.3(FOXE3):c.341A>G (p.Lys114Arg) rs2124042559
NM_012186.3(FOXE3):c.348G>A (p.Gln116=) rs774479548
NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys) rs1057518737
NM_012186.3(FOXE3):c.353G>C (p.Ser118Thr)
NM_012186.3(FOXE3):c.358C>T (p.Arg120Cys) rs1646884682
NM_012186.3(FOXE3):c.359G>C (p.Arg120Pro) rs772347736
NM_012186.3(FOXE3):c.374T>C (p.Leu125Pro) rs2124042635
NM_012186.3(FOXE3):c.387C>G (p.Phe129Leu) rs2124042660
NM_012186.3(FOXE3):c.388G>T (p.Val130Phe)
NM_012186.3(FOXE3):c.393_419delinsCGGCCAGTGCTCCTTTATCCATGGGAGCTGGGAATAATCCCAGAGAGCAGACAACCTGCTGCTCAGATACATTCACACAAGTGTGTACACACACATGCCCAGCCCATCTCGTCTCTACCAGGCTGAGATGCAGGAGATGGCATTTGACTAGGCCTACTATGTGCACAGCTATGGCTGAATCACTTCCTTTTTAAAACAAAATTGTGTTAGCCACTAATCCTGCTGGAGAATCACTTCCTAATCCCATTTCATGAACTTCTGATTGATGTCTCACAAGGAGGTTCACCC (p.Lys131_Gly140delinsAsnGlyGlnCysSerPheIleHisGlySerTrpGluTer)
NM_012186.3(FOXE3):c.39C>A (p.Phe13Leu)
NM_012186.3(FOXE3):c.3G>C (p.Met1Ile)
NM_012186.3(FOXE3):c.408G>A (p.Pro136=)
NM_012186.3(FOXE3):c.408G>C (p.Pro136=) rs780736595
NM_012186.3(FOXE3):c.413A>G (p.Asn138Ser) rs373777806
NM_012186.3(FOXE3):c.430T>C (p.Tyr144His)
NM_012186.3(FOXE3):c.438G>A (p.Thr146=)
NM_012186.3(FOXE3):c.453C>G (p.Ala151=)
NM_012186.3(FOXE3):c.460A>G (p.Met154Val)
NM_012186.3(FOXE3):c.470A>G (p.Asn157Ser)
NM_012186.3(FOXE3):c.487C>T (p.Arg163Cys) rs1389713794
NM_012186.3(FOXE3):c.488G>A (p.Arg163His)
NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser) rs1391534565
NM_012186.3(FOXE3):c.491G>C (p.Arg164Pro)
NM_012186.3(FOXE3):c.496C>T (p.Arg166Cys)
NM_012186.3(FOXE3):c.498C>A (p.Arg166=)
NM_012186.3(FOXE3):c.502A>C (p.Lys168Gln)
NM_012186.3(FOXE3):c.505C>A (p.Arg169Ser)
NM_012186.3(FOXE3):c.508G>A (p.Ala170Thr)
NM_012186.3(FOXE3):c.519C>A (p.Pro173=) rs577539007
NM_012186.3(FOXE3):c.519C>T (p.Pro173=)
NM_012186.3(FOXE3):c.526_539del (p.Ala176fs) rs2124043258
NM_012186.3(FOXE3):c.534G>A (p.Ala178=)
NM_012186.3(FOXE3):c.535del (p.Ala179fs)
NM_012186.3(FOXE3):c.543del (p.Pro182fs) rs2124043339
NM_012186.3(FOXE3):c.552C>T (p.Leu184=)
NM_012186.3(FOXE3):c.554C>T (p.Pro185Leu) rs2124043406
NM_012186.3(FOXE3):c.555dup (p.Phe186fs) rs1465921700
NM_012186.3(FOXE3):c.557T>C (p.Phe186Ser)
NM_012186.3(FOXE3):c.55C>T (p.Leu19=)
NM_012186.3(FOXE3):c.562T>C (p.Tyr188His)
NM_012186.3(FOXE3):c.562TACGCGCCC[1] (p.188YAP[1]) rs768610152
NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3]) rs768610152
NM_012186.3(FOXE3):c.567_568delinsTT (p.Pro190Ser)
NM_012186.3(FOXE3):c.569C>T (p.Pro190Leu)
NM_012186.3(FOXE3):c.575CGCCCG[1] (p.192AP[1]) rs1336140217
NM_012186.3(FOXE3):c.575CGCCCG[3] (p.Pro195_Gly196insAlaPro)
NM_012186.3(FOXE3):c.576G>A (p.Ala192=) rs2124043529
NM_012186.3(FOXE3):c.586G>A (p.Gly196Ser)
NM_012186.3(FOXE3):c.636G>T (p.Pro212=) rs1289906223
NM_012186.3(FOXE3):c.641C>T (p.Ala214Val)
NM_012186.3(FOXE3):c.642G>T (p.Ala214=)
NM_012186.3(FOXE3):c.64G>A (p.Val22Ile)
NM_012186.3(FOXE3):c.650T>C (p.Phe217Ser)
NM_012186.3(FOXE3):c.653G>T (p.Ser218Ile)
NM_012186.3(FOXE3):c.666G>A (p.Leu222=) rs959738363
NM_012186.3(FOXE3):c.669G>T (p.Val223=)
NM_012186.3(FOXE3):c.672C>G (p.Asn224Lys) rs1255205439
NM_012186.3(FOXE3):c.681G>A (p.Pro227=)
NM_012186.3(FOXE3):c.685C>A (p.Leu229Ile) rs2124043930
NM_012186.3(FOXE3):c.689C>G (p.Ala230Gly)
NM_012186.3(FOXE3):c.694C>G (p.Leu232Val)
NM_012186.3(FOXE3):c.696G>C (p.Leu232=)
NM_012186.3(FOXE3):c.6G>C (p.Ala2=) rs928328635
NM_012186.3(FOXE3):c.6G>T (p.Ala2=)
NM_012186.3(FOXE3):c.703C>A (p.Pro235Thr)
NM_012186.3(FOXE3):c.705C>G (p.Pro235=)
NM_012186.3(FOXE3):c.705del (p.Glu236fs)
NM_012186.3(FOXE3):c.706G>A (p.Glu236Lys)
NM_012186.3(FOXE3):c.706G>T (p.Glu236Ter)
NM_012186.3(FOXE3):c.709C>T (p.Pro237Ser) rs1646888724
NM_012186.3(FOXE3):c.712C>T (p.Pro238Ser) rs1327526761
NM_012186.3(FOXE3):c.717C>G (p.Cys239Trp)
NM_012186.3(FOXE3):c.724G>A (p.Ala242Thr)
NM_012186.3(FOXE3):c.729C>T (p.Pro243=)
NM_012186.3(FOXE3):c.733G>A (p.Ala245Thr)
NM_012186.3(FOXE3):c.742G>T (p.Ala248Ser)
NM_012186.3(FOXE3):c.754C>A (p.Pro252Thr)
NM_012186.3(FOXE3):c.756C>G (p.Pro252=)
NM_012186.3(FOXE3):c.756_779del (p.Cys253_Pro260del) rs761938618
NM_012186.3(FOXE3):c.75G>C (p.Ser25=) rs1327386935
NM_012186.3(FOXE3):c.75G>T (p.Ser25=)
NM_012186.3(FOXE3):c.773C>T (p.Ser258Phe)
NM_012186.3(FOXE3):c.774C>T (p.Ser258=)
NM_012186.3(FOXE3):c.776C>G (p.Pro259Arg)
NM_012186.3(FOXE3):c.77G>A (p.Gly26Glu) rs2124041379
NM_012186.3(FOXE3):c.780A>G (p.Pro260=)
NM_012186.3(FOXE3):c.781C>G (p.Leu261Val)
NM_012186.3(FOXE3):c.789G>A (p.Ser263=) rs1252974267
NM_012186.3(FOXE3):c.798C>G (p.Pro266=)
NM_012186.3(FOXE3):c.79C>T (p.Pro27Ser)
NM_012186.3(FOXE3):c.801C>T (p.Asp267=)
NM_012186.3(FOXE3):c.802C>A (p.Arg268Ser)
NM_012186.3(FOXE3):c.803G>C (p.Arg268Pro)
NM_012186.3(FOXE3):c.809T>A (p.Val270Glu)
NM_012186.3(FOXE3):c.812T>C (p.Leu271Pro) rs1351111614
NM_012186.3(FOXE3):c.822G>A (p.Thr274=)
NM_012186.3(FOXE3):c.823C>A (p.Arg275Ser)
NM_012186.3(FOXE3):c.824G>T (p.Arg275Leu)
NM_012186.3(FOXE3):c.82C>A (p.Pro28Thr)
NM_012186.3(FOXE3):c.831C>A (p.Gly277=) rs527783871
NM_012186.3(FOXE3):c.834C>T (p.Pro278=) rs886042525
NM_012186.3(FOXE3):c.835G>A (p.Gly279Ser)
NM_012186.3(FOXE3):c.839C>G (p.Pro280Arg)
NM_012186.3(FOXE3):c.844_850dup (p.Glu284delinsAlaArgTer) rs1476879051
NM_012186.3(FOXE3):c.84G>A (p.Pro28=) rs2124041428
NM_012186.3(FOXE3):c.854C>T (p.Pro285Leu) rs1184373895
NM_012186.3(FOXE3):c.855C>T (p.Pro285=)
NM_012186.3(FOXE3):c.861G>A (p.Leu287=) rs1570406069
NM_012186.3(FOXE3):c.871G>C (p.Gly291Arg)
NM_012186.3(FOXE3):c.872G>A (p.Gly291Glu)
NM_012186.3(FOXE3):c.877dup (p.Ala293fs)
NM_012186.3(FOXE3):c.880G>A (p.Ala294Thr)
NM_012186.3(FOXE3):c.883G>A (p.Ala295Thr)
NM_012186.3(FOXE3):c.88T>C (p.Ser30Pro)
NM_012186.3(FOXE3):c.922C>A (p.Gln308Lys)
NM_012186.3(FOXE3):c.926C>G (p.Pro309Arg)
NM_012186.3(FOXE3):c.927G>A (p.Pro309=) rs1338427430
NM_012186.3(FOXE3):c.92C>A (p.Pro31Gln)
NM_012186.3(FOXE3):c.932_944del (p.Phe311fs) rs2124045053
NM_012186.3(FOXE3):c.942G>T (p.Gly314=) rs1295698690
NM_012186.3(FOXE3):c.942dup (p.Leu315fs) rs1570406175
NM_012186.3(FOXE3):c.943C>T (p.Leu315=) rs1473311737
NM_012186.3(FOXE3):c.946G>A (p.Glu316Lys)
NM_012186.3(FOXE3):c.959G>T (p.Ter320Leu) rs387906793
NM_012186.3(FOXE3):c.96C>T (p.Leu32=)
NM_012186.3(FOXE3):c.97G>A (p.Ala33Thr) rs1646882579

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.