ClinVar Miner

List of variants studied for congenital primary aphakia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 334
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.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.471C>G (p.Asn157Lys) rs749859478 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.410G>A (p.Gly137Asp) rs749960549 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.113G>A (p.Gly38Glu)
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.136G>C (p.Ala46Pro)
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.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>A (p.Pro59=)
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>A (p.Arg65Gln)
NM_012186.3(FOXE3):c.194G>C (p.Arg65Pro)
NM_012186.3(FOXE3):c.194G>T (p.Arg65Leu)
NM_012186.3(FOXE3):c.1A>G (p.Met1Val)
NM_012186.3(FOXE3):c.1A>T (p.Met1Leu)
NM_012186.3(FOXE3):c.204G>C (p.Gln68His) rs1646883579
NM_012186.3(FOXE3):c.208G>C (p.Gly70Arg)
NM_012186.3(FOXE3):c.214C>T (p.Pro72Ser)
NM_012186.3(FOXE3):c.216G>A (p.Pro72=)
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.224C>G (p.Ser75Trp)
NM_012186.3(FOXE3):c.22G>C (p.Asp8His) rs1646882092
NM_012186.3(FOXE3):c.243C>T (p.Ala81=)
NM_012186.3(FOXE3):c.252G>A (p.Leu84=)
NM_012186.3(FOXE3):c.254C>G (p.Ala85Gly)
NM_012186.3(FOXE3):c.258C>G (p.His86Gln)
NM_012186.3(FOXE3):c.261C>T (p.Ala87=)
NM_012186.3(FOXE3):c.263C>T (p.Pro88Leu)
NM_012186.3(FOXE3):c.265G>A (p.Gly89Ser)
NM_012186.3(FOXE3):c.266G>A (p.Gly89Asp) rs1289511554
NM_012186.3(FOXE3):c.269G>A (p.Arg90His)
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.295C>T (p.Arg99Cys) rs886043204
NM_012186.3(FOXE3):c.296G>A (p.Arg99His)
NM_012186.3(FOXE3):c.2del (p.Met1fs) rs2124041028
NM_012186.3(FOXE3):c.304A>C (p.Thr102Pro)
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>A (p.Arg104His)
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.354C>T (p.Ser118=)
NM_012186.3(FOXE3):c.358C>T (p.Arg120Cys) rs1646884682
NM_012186.3(FOXE3):c.363C>T (p.His121=)
NM_012186.3(FOXE3):c.36G>A (p.Ala12=)
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.393_419delinsCGGCCAGTGCTCCTTTATCCATGGGAGCTGGGAATAATCCCAGAGAGCAGACAACCTGCTGCTCAGATACATTCACACAAGTGTGTACACACACATGCCCAGCCCATCTCGTCTCTACCAGGCTGAGATGCAGGAGATGGCATTTGACTAGGCCTACTATGTGCACAGCTATGGCTGAATCACTTCCTTTTTAAAACAAAATTGTGTTAGCCACTAATCCTGCTGGAGAATCACTTCCTAATCCCATTTCATGAACTTCTGATTGATGTCTCACAAGGAGGTTCACCC (p.Lys131_Gly140delinsAsnGlyGlnCysSerPheIleHisGlySerTrpGluTer)
NM_012186.3(FOXE3):c.39C>A (p.Phe13Leu)
NM_012186.3(FOXE3):c.39C>T (p.Phe13=)
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.425G>T (p.Gly142Val)
NM_012186.3(FOXE3):c.430T>C (p.Tyr144His)
NM_012186.3(FOXE3):c.438G>A (p.Thr146=)
NM_012186.3(FOXE3):c.444C>A (p.Asp148Glu)
NM_012186.3(FOXE3):c.453C>G (p.Ala151=)
NM_012186.3(FOXE3):c.460A>G (p.Met154Val)
NM_012186.3(FOXE3):c.464T>C (p.Phe155Ser)
NM_012186.3(FOXE3):c.470A>G (p.Asn157Ser)
NM_012186.3(FOXE3):c.472G>A (p.Gly158Ser)
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.504G>A (p.Lys168=)
NM_012186.3(FOXE3):c.505C>A (p.Arg169Ser)
NM_012186.3(FOXE3):c.508G>A (p.Ala170Thr)
NM_012186.3(FOXE3):c.516G>A (p.Leu172=)
NM_012186.3(FOXE3):c.519C>A (p.Pro173=) rs577539007
NM_012186.3(FOXE3):c.519C>T (p.Pro173=)
NM_012186.3(FOXE3):c.524A>C (p.His175Pro)
NM_012186.3(FOXE3):c.526_539del (p.Ala176fs) rs2124043258
NM_012186.3(FOXE3):c.528G>C (p.Ala176=)
NM_012186.3(FOXE3):c.534G>A (p.Ala178=)
NM_012186.3(FOXE3):c.535G>A (p.Ala179Thr)
NM_012186.3(FOXE3):c.535del (p.Ala179fs)
NM_012186.3(FOXE3):c.539C>T (p.Pro180Leu)
NM_012186.3(FOXE3):c.545C>G (p.Pro182Arg)
NM_012186.3(FOXE3):c.552C>T (p.Leu184=)
NM_012186.3(FOXE3):c.554C>T (p.Pro185Leu) rs2124043406
NM_012186.3(FOXE3):c.555C>T (p.Pro185=)
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.560C>T (p.Pro187Leu)
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.56_59del (p.Leu19fs)
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.629C>A (p.Pro210His)
NM_012186.3(FOXE3):c.632C>T (p.Ser211Leu)
NM_012186.3(FOXE3):c.636G>T (p.Pro212=) rs1289906223
NM_012186.3(FOXE3):c.639C>A (p.Pro213=)
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.657C>A (p.Val219=)
NM_012186.3(FOXE3):c.661A>T (p.Ser221Cys)
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.690G>C (p.Ala230=)
NM_012186.3(FOXE3):c.694C>G (p.Leu232Val)
NM_012186.3(FOXE3):c.696G>C (p.Leu232=)
NM_012186.3(FOXE3):c.697G>A (p.Gly233Ser)
NM_012186.3(FOXE3):c.6G>A (p.Ala2=)
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.704C>T (p.Pro235Leu)
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.724G>C (p.Ala242Pro)
NM_012186.3(FOXE3):c.729C>T (p.Pro243=)
NM_012186.3(FOXE3):c.733G>A (p.Ala245Thr)
NM_012186.3(FOXE3):c.739G>C (p.Ala247Pro)
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>A (p.Pro259Gln)
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.802C>T (p.Arg268Cys)
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.815C>T (p.Pro272Leu)
NM_012186.3(FOXE3):c.822G>A (p.Thr274=)
NM_012186.3(FOXE3):c.823C>A (p.Arg275Ser)
NM_012186.3(FOXE3):c.823C>T (p.Arg275Cys)
NM_012186.3(FOXE3):c.824G>T (p.Arg275Leu)
NM_012186.3(FOXE3):c.828CGGCCC[3] (p.Pro280_Leu281insGlyPro)
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.86C>G (p.Pro29Arg)
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.886C>G (p.Leu296Val)
NM_012186.3(FOXE3):c.88T>C (p.Ser30Pro)
NM_012186.3(FOXE3):c.902C>T (p.Pro301Leu)
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.943C>T (p.Leu315=) rs1473311737
NM_012186.3(FOXE3):c.946G>A (p.Glu316Lys)
NM_012186.3(FOXE3):c.96C>T (p.Leu32=)
NM_012186.3(FOXE3):c.97G>A (p.Ala33Thr) rs1646882579

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