ClinVar Miner

List of variants reported as likely benign for anterior segment dysgenesis by Invitae

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 386
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HGVS dbSNP gnomAD frequency
NM_012293.3(PXDN):c.2827C>T (p.Arg943Trp) rs200127189 0.00160
NM_012293.3(PXDN):c.19G>T (p.Gly7Cys) rs775995985 0.00133
NM_001453.3(FOXC1):c.114C>T (p.Thr38=) rs538126253 0.00104
NM_012293.3(PXDN):c.1112C>T (p.Pro371Leu) rs201592851 0.00096
NM_012293.3(PXDN):c.3559G>A (p.Asp1187Asn) rs201763004 0.00090
NM_012293.3(PXDN):c.3743+9G>A rs184138871 0.00075
NM_001453.3(FOXC1):c.597C>G (p.Arg199=) rs529227054 0.00070
NM_001453.3(FOXC1):c.718C>T (p.Leu240=) rs754033600 0.00063
NM_001453.3(FOXC1):c.1173G>T (p.Gly391=) rs773512259 0.00053
NM_012293.3(PXDN):c.1422C>T (p.Ser474=) rs112778384 0.00051
NM_001453.3(FOXC1):c.544G>A (p.Asp182Asn) rs142371761 0.00039
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_012293.3(PXDN):c.2097C>T (p.Asn699=) rs369631419 0.00036
NM_012293.3(PXDN):c.1443C>A (p.Val481=) rs370752629 0.00033
NM_001453.3(FOXC1):c.1189C>T (p.Leu397=) rs771039137 0.00032
NM_012293.3(PXDN):c.730+16C>T rs373245706 0.00031
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_001453.3(FOXC1):c.1639G>A (p.Val547Ile) rs570658290 0.00027
NM_001453.3(FOXC1):c.843G>T (p.Arg281=) rs1006154109 0.00026
NM_012186.3(FOXE3):c.426C>T (p.Gly142=) rs1370214494 0.00025
NM_000325.6(PITX2):c.206-8G>C rs373965144 0.00024
NM_001368894.2(PAX6):c.985T>C (p.Leu329=) rs373147550 0.00024
NM_001453.3(FOXC1):c.171G>C (p.Pro57=) rs188085399 0.00024
NM_001453.3(FOXC1):c.962C>A (p.Pro321Gln) rs754743917 0.00024
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_001453.3(FOXC1):c.1452C>T (p.His484=) rs749512415 0.00019
NM_012186.3(FOXE3):c.828C>G (p.Pro276=) rs887265865 0.00019
NM_012293.3(PXDN):c.3147G>A (p.Glu1049=) rs369851999 0.00018
NM_012293.3(PXDN):c.3303T>G (p.Ala1101=) rs368271183 0.00018
NM_001453.3(FOXC1):c.1443C>T (p.Asp481=) rs183970787 0.00017
NM_001368894.2(PAX6):c.-118T>C rs992201562 0.00016
NM_012186.3(FOXE3):c.849T>C (p.Ala283=) rs911846788 0.00016
NM_012293.3(PXDN):c.1827C>T (p.Leu609=) rs202108023 0.00016
NM_012293.3(PXDN):c.165G>A (p.Glu55=) rs781119752 0.00015
NM_012293.3(PXDN):c.2787G>A (p.Leu929=) rs753095408 0.00015
NM_012293.3(PXDN):c.2999C>T (p.Thr1000Met) rs201077249 0.00015
NM_012293.3(PXDN):c.612G>A (p.Ala204=) rs748974745 0.00015
NM_001453.3(FOXC1):c.78C>T (p.Tyr26=) rs545478008 0.00014
NM_012186.3(FOXE3):c.51T>C (p.Pro17=) rs548368038 0.00014
NM_012293.3(PXDN):c.1596C>T (p.Ser532=) rs375578544 0.00014
NM_001368894.2(PAX6):c.10+17T>C rs766982377 0.00011
NM_001368894.2(PAX6):c.1023C>T (p.Ser341=) rs139416026 0.00011
NM_001368894.2(PAX6):c.465C>G (p.Gly155=) rs139803630 0.00009
NM_001453.3(FOXC1):c.1230C>T (p.Gly410=) rs1176446421 0.00009
NM_001453.3(FOXC1):c.567G>A (p.Leu189=) rs543542572 0.00009
NM_001368894.2(PAX6):c.11-12C>G rs766046559 0.00008
NM_001453.3(FOXC1):c.252C>T (p.Ile84=) rs751286982 0.00008
NM_000325.6(PITX2):c.816G>A (p.Ala272=) rs778779105 0.00007
NM_001453.3(FOXC1):c.783C>T (p.Asp261=) rs754761427 0.00007
NM_012186.3(FOXE3):c.882C>G (p.Ala294=) rs946810051 0.00007
NM_001368894.2(PAX6):c.462C>T (p.Asp154=) rs1800427 0.00006
NM_001453.3(FOXC1):c.351C>T (p.Asp117=) rs1391853754 0.00006
NM_001453.3(FOXC1):c.9G>T (p.Ala3=) rs779435104 0.00006
NM_012186.3(FOXE3):c.192G>A (p.Arg64=) rs757496166 0.00006
NM_012186.3(FOXE3):c.813G>A (p.Leu271=) rs1003802007 0.00006
NM_001368894.2(PAX6):c.438C>T (p.Ser146=) rs146769256 0.00005
NM_001368894.2(PAX6):c.699A>G (p.Gln233=) rs539046948 0.00005
NM_001453.3(FOXC1):c.1170C>G (p.Ala390=) rs908957809 0.00005
NM_001453.3(FOXC1):c.1284G>A (p.Leu428=) rs1201818386 0.00005
NM_001453.3(FOXC1):c.195G>A (p.Gly65=) rs150084174 0.00005
NM_012293.3(PXDN):c.2394G>A (p.Val798=) rs548975446 0.00005
NM_001368894.2(PAX6):c.1074+9G>A rs376883598 0.00004
NM_001453.3(FOXC1):c.474C>T (p.Ser158=) rs369346224 0.00004
NM_001453.3(FOXC1):c.708G>A (p.Pro236=) rs775979008 0.00004
NM_001453.3(FOXC1):c.915C>T (p.Ser305=) rs570694575 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.837C>T (p.Gly279=) rs752441939 0.00004
NM_012293.3(PXDN):c.1329C>T (p.Val443=) rs550694319 0.00004
NM_012293.3(PXDN):c.2313C>T (p.Tyr771=) rs370841716 0.00004
NM_012293.3(PXDN):c.3660G>A (p.Glu1220=) rs368223046 0.00004
NM_001368894.2(PAX6):c.276A>G (p.Val92=) rs750195797 0.00003
NM_001368894.2(PAX6):c.405A>G (p.Ser135=) rs760926425 0.00003
NM_001368894.2(PAX6):c.537G>C (p.Gly179=) rs374226064 0.00003
NM_001368894.2(PAX6):c.959-20G>A rs751109356 0.00003
NM_001453.3(FOXC1):c.1032C>A (p.Ile344=) rs539532417 0.00003
NM_001453.3(FOXC1):c.1074C>T (p.Ser358=) rs747540420 0.00003
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.777G>A (p.Pro259=) rs1045485277 0.00003
NM_012293.3(PXDN):c.1018+10G>A rs972175216 0.00003
NM_001368894.2(PAX6):c.1131G>A (p.Ser377=) rs369447790 0.00002
NM_001368894.2(PAX6):c.717G>A (p.Leu239=) rs766564648 0.00002
NM_001453.3(FOXC1):c.1017C>T (p.Ser339=) rs770183159 0.00002
NM_001453.3(FOXC1):c.1245G>T (p.Ala415=) rs759491792 0.00002
NM_001453.3(FOXC1):c.1320C>G (p.Ser440Arg) rs998203463 0.00002
NM_001453.3(FOXC1):c.147C>T (p.His49=) rs1400944385 0.00002
NM_001453.3(FOXC1):c.735C>T (p.Ala245=) rs1455631339 0.00002
NM_001453.3(FOXC1):c.786C>T (p.Ser262=) rs1284573981 0.00002
NM_001453.3(FOXC1):c.864G>A (p.Ala288=) rs1477621509 0.00002
NM_012186.3(FOXE3):c.543G>T (p.Gly181=) rs765016567 0.00002
NM_012186.3(FOXE3):c.570C>T (p.Pro190=) rs1182253342 0.00002
NM_012186.3(FOXE3):c.876G>A (p.Pro292=) rs1646890706 0.00002
NM_012293.3(PXDN):c.2592C>T (p.Pro864=) rs552146038 0.00002
NM_001368894.2(PAX6):c.1020C>T (p.Tyr340=) rs786205467 0.00001
NM_001368894.2(PAX6):c.1068T>G (p.Pro356=) rs1185901527 0.00001
NM_001368894.2(PAX6):c.1098C>T (p.Ser366=) rs1949682214 0.00001
NM_001368894.2(PAX6):c.11-10C>G rs762637284 0.00001
NM_001368894.2(PAX6):c.1164C>T (p.Pro388=) rs764134540 0.00001
NM_001368894.2(PAX6):c.1194G>A (p.Gln398=) rs766842413 0.00001
NM_001368894.2(PAX6):c.1242T>G (p.Gly414=) rs372956285 0.00001
NM_001368894.2(PAX6):c.184-4G>T rs761362173 0.00001
NM_001368894.2(PAX6):c.184-9C>G rs764872492 0.00001
NM_001368894.2(PAX6):c.501C>T (p.Thr167=) rs201200280 0.00001
NM_001368894.2(PAX6):c.525T>A (p.Gly175=) rs1315078444 0.00001
NM_001368894.2(PAX6):c.561G>A (p.Thr187=) rs771257263 0.00001
NM_001368894.2(PAX6):c.622G>A (p.Gly208Arg) rs374396492 0.00001
NM_001368894.2(PAX6):c.658C>T (p.Leu220=) rs778895282 0.00001
NM_001368894.2(PAX6):c.702G>A (p.Glu234=) rs755018027 0.00001
NM_001368894.2(PAX6):c.768A>G (p.Arg256=) rs757591036 0.00001
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) rs779631884 0.00001
NM_001453.3(FOXC1):c.1038C>G (p.Pro346=) rs1355905429 0.00001
NM_001453.3(FOXC1):c.1278C>T (p.Asp426=) rs1011576688 0.00001
NM_001453.3(FOXC1):c.1386C>T (p.His462=) rs1413952291 0.00001
NM_001453.3(FOXC1):c.144G>T (p.Ser48=) rs112885689 0.00001
NM_001453.3(FOXC1):c.1575G>T (p.Gly525=) rs139877144 0.00001
NM_001453.3(FOXC1):c.1629C>T (p.Ser543=) rs747055801 0.00001
NM_001453.3(FOXC1):c.1638C>T (p.Phe546=) rs1327937746 0.00001
NM_001453.3(FOXC1):c.306C>T (p.Asn102=) rs750797555 0.00001
NM_001453.3(FOXC1):c.375C>T (p.Ser125=) rs765626020 0.00001
NM_001453.3(FOXC1):c.498C>T (p.Ser166=) rs1199147210 0.00001
NM_001453.3(FOXC1):c.570C>T (p.His190=) rs1199142990 0.00001
NM_001453.3(FOXC1):c.660C>T (p.Pro220=) rs1438325732 0.00001
NM_012186.3(FOXE3):c.114G>A (p.Gly38=) rs1305763469 0.00001
NM_012186.3(FOXE3):c.171C>A (p.Pro57=) rs1303056091 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.411C>A (p.Gly137=) rs536267128 0.00001
NM_012186.3(FOXE3):c.420C>T (p.Gly140=) rs1352061807 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.579C>G (p.Pro193=) rs1174698590 0.00001
NM_012186.3(FOXE3):c.624G>C (p.Pro208=) rs1400982636 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.804C>T (p.Arg268=) rs1332275509 0.00001
NM_012186.3(FOXE3):c.819G>A (p.Ala273=) rs1035152511 0.00001
NM_012186.3(FOXE3):c.930C>T (p.Gly310=) rs963646314 0.00001
NM_012293.3(PXDN):c.3642T>C (p.Phe1214=) rs544242132 0.00001
NM_012293.3(PXDN):c.3768G>C (p.Val1256=) rs746169929 0.00001
NM_012293.3(PXDN):c.639G>A (p.Ser213=) rs778985833 0.00001
NM_012293.3(PXDN):c.750C>T (p.Ser250=) rs762530703 0.00001
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_000325.6(PITX2):c.489C>T (p.Phe163=)
NM_000325.6(PITX2):c.588A>C (p.Leu196=)
NM_000325.6(PITX2):c.592A>T (p.Thr198Ser) rs2110431786
NM_000325.6(PITX2):c.633C>T (p.Pro211=)
NM_000325.6(PITX2):c.634C>T (p.Leu212=)
NM_000325.6(PITX2):c.927G>A (p.Pro309=)
NM_001368894.2(PAX6):c.10+11C>A
NM_001368894.2(PAX6):c.10+13G>A
NM_001368894.2(PAX6):c.10+7G>A rs2135296029
NM_001368894.2(PAX6):c.10+7G>T rs2135296029
NM_001368894.2(PAX6):c.1003G>A (p.Ala335Thr)
NM_001368894.2(PAX6):c.1017C>T (p.Thr339=)
NM_001368894.2(PAX6):c.1029G>T (p.Leu343=)
NM_001368894.2(PAX6):c.1041C>T (p.Pro347=)
NM_001368894.2(PAX6):c.1074+16G>A
NM_001368894.2(PAX6):c.1074+8C>T
NM_001368894.2(PAX6):c.1075-3C>A
NM_001368894.2(PAX6):c.1075-8C>T
NM_001368894.2(PAX6):c.11-20T>C
NM_001368894.2(PAX6):c.11-24_11-20dup rs2135156050
NM_001368894.2(PAX6):c.1101A>G (p.Ser367=) rs1328757289
NM_001368894.2(PAX6):c.1119C>A (p.Pro373=)
NM_001368894.2(PAX6):c.117G>C (p.Pro39=) rs919486001
NM_001368894.2(PAX6):c.117G>T (p.Pro39=) rs919486001
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=) rs1949622831
NM_001368894.2(PAX6):c.1226-13C>T rs2134386969
NM_001368894.2(PAX6):c.1226-4C>G rs11031477
NM_001368894.2(PAX6):c.1226-7C>T
NM_001368894.2(PAX6):c.1230C>A (p.Leu410=) rs776244636
NM_001368894.2(PAX6):c.1266C>T (p.Pro422=)
NM_001368894.2(PAX6):c.1287T>G (p.Ser429=)
NM_001368894.2(PAX6):c.1293C>T (p.Tyr431=)
NM_001368894.2(PAX6):c.141+19C>T
NM_001368894.2(PAX6):c.141+9C>G rs1194088876
NM_001368894.2(PAX6):c.184-5T>C
NM_001368894.2(PAX6):c.225C>T (p.Tyr75=)
NM_001368894.2(PAX6):c.237C>T (p.Ser79=)
NM_001368894.2(PAX6):c.255C>T (p.Ile85=)
NM_001368894.2(PAX6):c.270G>A (p.Pro90=)
NM_001368894.2(PAX6):c.279G>A (p.Ala93=)
NM_001368894.2(PAX6):c.306C>G (p.Ala102=) rs1160160301
NM_001368894.2(PAX6):c.318G>A (p.Arg106=) rs1953919512
NM_001368894.2(PAX6):c.339T>C (p.Ala113=)
NM_001368894.2(PAX6):c.33C>T (p.Leu11=)
NM_001368894.2(PAX6):c.349C>A (p.Arg117=) rs121907914
NM_001368894.2(PAX6):c.399+10_399+11del rs2135085957
NM_001368894.2(PAX6):c.399+18A>G
NM_001368894.2(PAX6):c.399+9A>G
NM_001368894.2(PAX6):c.400-15_400-5del rs758179195
NM_001368894.2(PAX6):c.400-18T>G
NM_001368894.2(PAX6):c.42C>T (p.Val14=)
NM_001368894.2(PAX6):c.456C>T (p.Gly152=) rs1304237286
NM_001368894.2(PAX6):c.463G>A (p.Gly155Ser)
NM_001368894.2(PAX6):c.492C>T (p.Asn164=)
NM_001368894.2(PAX6):c.534G>A (p.Pro178=)
NM_001368894.2(PAX6):c.555A>G (p.Gln185=)
NM_001368894.2(PAX6):c.565+17C>T
NM_001368894.2(PAX6):c.591G>A (p.Gly197=)
NM_001368894.2(PAX6):c.621C>T (p.Asn207=)
NM_001368894.2(PAX6):c.651A>G (p.Arg217=)
NM_001368894.2(PAX6):c.714C>T (p.Ala238=) rs1554983496
NM_001368894.2(PAX6):c.724+16A>G
NM_001368894.2(PAX6):c.724+7G>C
NM_001368894.2(PAX6):c.725-18A>G rs2134615673
NM_001368894.2(PAX6):c.725-19A>C rs369866279
NM_001368894.2(PAX6):c.735A>G (p.Arg245=)
NM_001368894.2(PAX6):c.741T>C (p.His247=)
NM_001368894.2(PAX6):c.762A>G (p.Arg254=)
NM_001368894.2(PAX6):c.798A>G (p.Ala266=)
NM_001368894.2(PAX6):c.807+14G>A rs1404270061
NM_001368894.2(PAX6):c.808-13A>G
NM_001368894.2(PAX6):c.808-15C>T
NM_001368894.2(PAX6):c.808-18G>A
NM_001368894.2(PAX6):c.808-19T>C
NM_001368894.2(PAX6):c.808-19del
NM_001368894.2(PAX6):c.882C>T (p.Asn294=)
NM_001368894.2(PAX6):c.918C>T (p.Ser306=)
NM_001368894.2(PAX6):c.951C>T (p.Thr317=)
NM_001368894.2(PAX6):c.958+18T>C
NM_001368894.2(PAX6):c.958+18T>G
NM_001368894.2(PAX6):c.960T>C (p.Val320=)
NM_001368894.2(PAX6):c.981C>T (p.Ser327=) rs1042417987
NM_001368894.2(PAX6):c.993A>G (p.Arg331=)
NM_001453.3(FOXC1):c.1020G>A (p.Ser340=)
NM_001453.3(FOXC1):c.1025C>G (p.Ala342Gly)
NM_001453.3(FOXC1):c.1029G>A (p.Gly343=)
NM_001453.3(FOXC1):c.1038C>T (p.Pro346=)
NM_001453.3(FOXC1):c.1050C>G (p.Leu350=)
NM_001453.3(FOXC1):c.1059C>T (p.Tyr353=)
NM_001453.3(FOXC1):c.105C>T (p.Gly35=)
NM_001453.3(FOXC1):c.1077C>T (p.Ser359=)
NM_001453.3(FOXC1):c.1089C>T (p.Ser363=) rs1364012338
NM_001453.3(FOXC1):c.1113G>T (p.Ala371=) rs1762548215
NM_001453.3(FOXC1):c.1137C>T (p.Gly379=)
NM_001453.3(FOXC1):c.1218C>G (p.Gly406=)
NM_001453.3(FOXC1):c.1245G>C (p.Ala415=)
NM_001453.3(FOXC1):c.1299G>A (p.Leu433=)
NM_001453.3(FOXC1):c.1326G>A (p.Ser442=)
NM_001453.3(FOXC1):c.1329C>T (p.Ser443=)
NM_001453.3(FOXC1):c.1338CGG[10] (p.Gly455_Gly456dup) rs398123612
NM_001453.3(FOXC1):c.1338CGG[11] (p.Gly454_Gly456dup) rs398123612
NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[6] (p.Gly455_Gly456del) rs398123612
NM_001453.3(FOXC1):c.1362G>C (p.Gly454=)
NM_001453.3(FOXC1):c.1380C>T (p.Gly460=)
NM_001453.3(FOXC1):c.1458G>C (p.Ala486=)
NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del) rs747574884
NM_001453.3(FOXC1):c.1464GGC[5] (p.Ala495del) rs747574884
NM_001453.3(FOXC1):c.1509C>T (p.Asn503=)
NM_001453.3(FOXC1):c.1518G>A (p.Ser506=)
NM_001453.3(FOXC1):c.159C>G (p.Ala53=)
NM_001453.3(FOXC1):c.159C>T (p.Ala53=) rs374448293
NM_001453.3(FOXC1):c.18C>G (p.Ser6=) rs1363320651
NM_001453.3(FOXC1):c.18C>T (p.Ser6=)
NM_001453.3(FOXC1):c.192C>T (p.Tyr64=)
NM_001453.3(FOXC1):c.198C>T (p.Pro66=)
NM_001453.3(FOXC1):c.246C>T (p.Ser82=)
NM_001453.3(FOXC1):c.261C>T (p.Ile87=)
NM_001453.3(FOXC1):c.264C>T (p.Thr88=)
NM_001453.3(FOXC1):c.27C>T (p.Ser9=)
NM_001453.3(FOXC1):c.309C>T (p.Gly103=)
NM_001453.3(FOXC1):c.315C>T (p.Tyr105=)
NM_001453.3(FOXC1):c.342C>T (p.Phe114=)
NM_001453.3(FOXC1):c.372C>T (p.Asn124=)
NM_001453.3(FOXC1):c.378C>A (p.Ile126=)
NM_001453.3(FOXC1):c.387C>T (p.Asn129=)
NM_001453.3(FOXC1):c.441C>G (p.Gly147=)
NM_001453.3(FOXC1):c.453C>T (p.Tyr151=)
NM_001453.3(FOXC1):c.534C>T (p.Asp178=) rs755160620
NM_001453.3(FOXC1):c.543G>A (p.Lys181=)
NM_001453.3(FOXC1):c.552G>A (p.Glu184=)
NM_001453.3(FOXC1):c.564G>A (p.Arg188=)
NM_001453.3(FOXC1):c.591C>T (p.Pro197=) rs761021950
NM_001453.3(FOXC1):c.684C>A (p.Thr228=)
NM_001453.3(FOXC1):c.693T>C (p.Gly231=)
NM_001453.3(FOXC1):c.727G>T (p.Ala243Ser)
NM_001453.3(FOXC1):c.736C>T (p.Leu246=) rs1282700439
NM_001453.3(FOXC1):c.753C>T (p.Ala251=) rs1554100998
NM_001453.3(FOXC1):c.756C>G (p.Ala252=)
NM_001453.3(FOXC1):c.804C>G (p.Ser268=) rs1040137792
NM_001453.3(FOXC1):c.807C>T (p.Ser269=)
NM_001453.3(FOXC1):c.819C>A (p.Pro273=) rs931714808
NM_001453.3(FOXC1):c.846G>A (p.Pro282=) rs1261991191
NM_001453.3(FOXC1):c.873G>A (p.Ala291=)
NM_001453.3(FOXC1):c.888G>T (p.Ala296=)
NM_001453.3(FOXC1):c.906G>T (p.Pro302=) rs1262103111
NM_001453.3(FOXC1):c.90C>G (p.Ala30=) rs1333340503
NM_001453.3(FOXC1):c.930G>A (p.Val310=)
NM_001453.3(FOXC1):c.936C>T (p.Asn312=)
NM_001453.3(FOXC1):c.975C>T (p.Ala325=)
NM_001453.3(FOXC1):c.993C>T (p.Gly331=)
NM_012186.3(FOXE3):c.105C>T (p.Ala35=) rs1646882637
NM_012186.3(FOXE3):c.115C>A (p.Arg39=)
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.150G>A (p.Glu50=)
NM_012186.3(FOXE3):c.165C>G (p.Pro55=)
NM_012186.3(FOXE3):c.177G>C (p.Pro59=)
NM_012186.3(FOXE3):c.180G>A (p.Gly60=)
NM_012186.3(FOXE3):c.285C>G (p.Ala95=)
NM_012186.3(FOXE3):c.306C>T (p.Thr102=)
NM_012186.3(FOXE3):c.309A>G (p.Glu103=) rs2124042422
NM_012186.3(FOXE3):c.315T>C (p.Phe105=) rs2124042461
NM_012186.3(FOXE3):c.327C>A (p.Arg109=) rs2124042503
NM_012186.3(FOXE3):c.348G>A (p.Gln116=) rs774479548
NM_012186.3(FOXE3):c.408G>A (p.Pro136=)
NM_012186.3(FOXE3):c.408G>C (p.Pro136=) rs780736595
NM_012186.3(FOXE3):c.438G>A (p.Thr146=)
NM_012186.3(FOXE3):c.453C>G (p.Ala151=)
NM_012186.3(FOXE3):c.519C>A (p.Pro173=) rs577539007
NM_012186.3(FOXE3):c.519C>T (p.Pro173=)
NM_012186.3(FOXE3):c.534G>A (p.Ala178=)
NM_012186.3(FOXE3):c.552C>T (p.Leu184=)
NM_012186.3(FOXE3):c.55C>T (p.Leu19=)
NM_012186.3(FOXE3):c.576G>A (p.Ala192=) rs2124043529
NM_012186.3(FOXE3):c.636G>T (p.Pro212=) rs1289906223
NM_012186.3(FOXE3):c.666G>A (p.Leu222=) rs959738363
NM_012186.3(FOXE3):c.669G>T (p.Val223=)
NM_012186.3(FOXE3):c.681G>A (p.Pro227=)
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.705C>G (p.Pro235=)
NM_012186.3(FOXE3):c.729C>T (p.Pro243=)
NM_012186.3(FOXE3):c.756C>G (p.Pro252=)
NM_012186.3(FOXE3):c.75G>C (p.Ser25=) rs1327386935
NM_012186.3(FOXE3):c.75G>T (p.Ser25=)
NM_012186.3(FOXE3):c.774C>T (p.Ser258=)
NM_012186.3(FOXE3):c.780A>G (p.Pro260=)
NM_012186.3(FOXE3):c.789G>A (p.Ser263=) rs1252974267
NM_012186.3(FOXE3):c.798C>G (p.Pro266=)
NM_012186.3(FOXE3):c.801C>T (p.Asp267=)
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.84G>A (p.Pro28=) rs2124041428
NM_012186.3(FOXE3):c.855C>T (p.Pro285=)
NM_012186.3(FOXE3):c.861G>A (p.Leu287=) rs1570406069
NM_012186.3(FOXE3):c.927G>A (p.Pro309=) rs1338427430
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.96C>T (p.Leu32=)
NM_012293.3(PXDN):c.1074C>T (p.Ser358=)
NM_012293.3(PXDN):c.1206C>T (p.Val402=)
NM_012293.3(PXDN):c.1284C>T (p.Ile428=)
NM_012293.3(PXDN):c.1383G>A (p.Pro461=)
NM_012293.3(PXDN):c.1386C>T (p.Pro462=)
NM_012293.3(PXDN):c.1408+15G>A
NM_012293.3(PXDN):c.1408+8_1408+9dup
NM_012293.3(PXDN):c.1409-16G>A
NM_012293.3(PXDN):c.1409-16G>T
NM_012293.3(PXDN):c.1992G>A (p.Pro664=)
NM_012293.3(PXDN):c.2172C>G (p.Thr724=)
NM_012293.3(PXDN):c.2172C>T (p.Thr724=) rs368483848
NM_012293.3(PXDN):c.243A>G (p.Ala81=) rs1572164777
NM_012293.3(PXDN):c.2640C>T (p.Arg880=)
NM_012293.3(PXDN):c.2741A>G (p.Asn914Ser)
NM_012293.3(PXDN):c.2913C>T (p.Phe971=)
NM_012293.3(PXDN):c.3000G>A (p.Thr1000=)
NM_012293.3(PXDN):c.3153C>T (p.His1051=)
NM_012293.3(PXDN):c.3201C>T (p.Thr1067=)
NM_012293.3(PXDN):c.3441A>G (p.Ala1147=) rs773884838
NM_012293.3(PXDN):c.3482G>A (p.Arg1161Gln)
NM_012293.3(PXDN):c.3483G>T (p.Arg1161=) rs375049627
NM_012293.3(PXDN):c.3570T>C (p.Asn1190=) rs2125410277
NM_012293.3(PXDN):c.3876G>A (p.Ala1292=) rs377271958
NM_012293.3(PXDN):c.3953-5T>C
NM_012293.3(PXDN):c.417-7C>T
NM_012293.3(PXDN):c.4206+15G>A
NM_012293.3(PXDN):c.4320+10G>A
NM_012293.3(PXDN):c.4425G>A (p.Ala1475=)
NM_012293.3(PXDN):c.621G>T (p.Leu207=)
NM_012293.3(PXDN):c.657G>A (p.Ala219=) rs764442724
NM_012293.3(PXDN):c.717A>G (p.Glu239=) rs2125441165
NM_012293.3(PXDN):c.730+15dup
NM_012293.3(PXDN):c.730+18C>T
NM_012293.3(PXDN):c.831C>A (p.Ile277=) rs1553362974
NM_012293.3(PXDN):c.849-8C>T
NM_012293.3(PXDN):c.873T>C (p.Asp291=)

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