ClinVar Miner

List of variants in gene SATB2 studied for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 495
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HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.1543-4A>C rs10153730 0.93908
NM_001172509.2(SATB2):c.474-35G>C rs1348813 0.63041
NM_001172509.2(SATB2):c.1434C>T (p.Gly478=) rs149056216 0.00109
NM_001172509.2(SATB2):c.210C>T (p.Asp70=) rs34311963 0.00070
NM_001172509.2(SATB2):c.195C>T (p.Val65=) rs147613731 0.00065
NM_001172509.2(SATB2):c.1071C>T (p.Ser357=) rs148055910 0.00035
NM_001172509.2(SATB2):c.1257G>A (p.Gln419=) rs367947535 0.00029
NM_001172509.2(SATB2):c.1386+18C>T rs199984701 0.00029
NM_001172509.2(SATB2):c.151G>A (p.Val51Met) rs540871216 0.00025
NM_001172509.2(SATB2):c.333G>C (p.Ala111=) rs140116634 0.00024
NM_001172509.2(SATB2):c.1035C>A (p.Ile345=) rs150824088 0.00019
NM_001172509.2(SATB2):c.1386+19G>A rs374300066 0.00018
NM_001172509.2(SATB2):c.1740+12C>T rs201101830 0.00016
NM_001172509.2(SATB2):c.1572G>A (p.Lys524=) rs376557576 0.00015
NM_001172509.2(SATB2):c.405C>T (p.Pro135=) rs150990155 0.00014
NM_001172509.2(SATB2):c.585C>T (p.Cys195=) rs376383948 0.00014
NM_001172509.2(SATB2):c.381C>A (p.Pro127=) rs746473092 0.00013
NM_001172509.2(SATB2):c.1173+6A>G rs747745210 0.00012
NM_001172509.2(SATB2):c.862G>A (p.Ala288Thr) rs142825652 0.00012
NM_001172509.2(SATB2):c.1173+5A>G rs569655648 0.00010
NM_001172509.2(SATB2):c.1248G>A (p.Arg416=) rs371524081 0.00009
NM_001172509.2(SATB2):c.1740+20G>A rs375950005 0.00008
NM_001172509.2(SATB2):c.306G>A (p.Leu102=) rs201405384 0.00008
NM_001172509.2(SATB2):c.1387-6T>C rs769072507 0.00007
NM_001172509.2(SATB2):c.1174-18T>A rs1194654045 0.00006
NM_001172509.2(SATB2):c.787T>C (p.Ser263Pro) rs12619995 0.00006
NM_001172509.2(SATB2):c.1173+4C>A rs376920785 0.00005
NM_001172509.2(SATB2):c.1140T>A (p.Ala380=) rs771044415 0.00004
NM_001172509.2(SATB2):c.1335G>A (p.Val445=) rs547239131 0.00004
NM_001172509.2(SATB2):c.1387-4G>T rs749603983 0.00004
NM_001172509.2(SATB2):c.1467C>T (p.Asp489=) rs370291268 0.00004
NM_001172509.2(SATB2):c.1530A>G (p.Ala510=) rs377035208 0.00004
NM_001172509.2(SATB2):c.169+11G>T rs779817342 0.00004
NM_001172509.2(SATB2):c.1740+19C>T rs757980261 0.00004
NM_001172509.2(SATB2):c.219T>G (p.Leu73=) rs150919931 0.00004
NM_001172509.2(SATB2):c.408C>T (p.Asp136=) rs756417252 0.00004
NM_001172509.2(SATB2):c.420C>T (p.Ala140=) rs202223477 0.00004
NM_001172509.2(SATB2):c.42C>G (p.Pro14=) rs773072163 0.00004
NM_001172509.2(SATB2):c.453G>A (p.Thr151=) rs973674250 0.00004
NM_001172509.2(SATB2):c.1174-6A>T rs368537092 0.00003
NM_001172509.2(SATB2):c.1236A>G (p.Leu412=) rs767544833 0.00003
NM_001172509.2(SATB2):c.1398G>A (p.Ser466=) rs377059710 0.00003
NM_001172509.2(SATB2):c.1435G>A (p.Ala479Thr) rs772617927 0.00003
NM_001172509.2(SATB2):c.1439A>G (p.Asn480Ser) rs201864116 0.00003
NM_001172509.2(SATB2):c.1542+13T>A rs1046713591 0.00003
NM_001172509.2(SATB2):c.1551G>T (p.Leu517=) rs760937399 0.00003
NM_001172509.2(SATB2):c.163G>C (p.Val55Leu) rs748892556 0.00003
NM_001172509.2(SATB2):c.1660G>A (p.Val554Ile) rs1201673032 0.00003
NM_001172509.2(SATB2):c.172T>C (p.Leu58=) rs761710516 0.00003
NM_001172509.2(SATB2):c.243C>T (p.His81=) rs372121244 0.00003
NM_001172509.2(SATB2):c.45C>T (p.Asp15=) rs771997100 0.00003
NM_001172509.2(SATB2):c.700+6C>T rs755400212 0.00003
NM_001172509.2(SATB2):c.1060A>G (p.Thr354Ala) rs764552856 0.00002
NM_001172509.2(SATB2):c.1212T>C (p.Pro404=) rs1486060390 0.00002
NM_001172509.2(SATB2):c.121A>G (p.Met41Val) rs919635073 0.00002
NM_001172509.2(SATB2):c.1239A>G (p.Val413=) rs148608261 0.00002
NM_001172509.2(SATB2):c.1404G>A (p.Pro468=) rs542911998 0.00002
NM_001172509.2(SATB2):c.1509C>T (p.Ala503=) rs771083610 0.00002
NM_001172509.2(SATB2):c.1543-20G>A rs776839849 0.00002
NM_001172509.2(SATB2):c.1740+16C>T rs777264256 0.00002
NM_001172509.2(SATB2):c.1740+9C>T rs745695602 0.00002
NM_001172509.2(SATB2):c.211G>A (p.Gly71Ser) rs756865617 0.00002
NM_001172509.2(SATB2):c.381C>T (p.Pro127=) rs746473092 0.00002
NM_001172509.2(SATB2):c.411G>A (p.Ala137=) rs781353036 0.00002
NM_001172509.2(SATB2):c.568A>T (p.Thr190Ser) rs1333077167 0.00002
NM_001172509.2(SATB2):c.695T>C (p.Ile232Thr) rs773467832 0.00002
NM_001172509.2(SATB2):c.756A>G (p.Pro252=) rs375364851 0.00002
NM_001172509.2(SATB2):c.846C>T (p.Ile282=) rs373578751 0.00002
NM_001172509.2(SATB2):c.915A>G (p.Gln305=) rs1440871358 0.00002
NM_001172509.2(SATB2):c.1000G>A (p.Ala334Thr) rs754385480 0.00001
NM_001172509.2(SATB2):c.1072G>A (p.Val358Met) rs765504446 0.00001
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln) rs886041516 0.00001
NM_001172509.2(SATB2):c.1320C>T (p.Ser440=) rs770384540 0.00001
NM_001172509.2(SATB2):c.1322T>C (p.Met441Thr) rs1294387707 0.00001
NM_001172509.2(SATB2):c.1379C>A (p.Thr460Asn) rs1329250891 0.00001
NM_001172509.2(SATB2):c.1380C>T (p.Thr460=) rs996522781 0.00001
NM_001172509.2(SATB2):c.1386+13C>T rs1403696762 0.00001
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu) rs780366664 0.00001
NM_001172509.2(SATB2):c.1402C>A (p.Pro468Thr) rs770212471 0.00001
NM_001172509.2(SATB2):c.1403C>T (p.Pro468Leu) rs746076990 0.00001
NM_001172509.2(SATB2):c.1428G>A (p.Val476=) rs753471227 0.00001
NM_001172509.2(SATB2):c.1445A>G (p.Asn482Ser) rs1302645769 0.00001
NM_001172509.2(SATB2):c.1447A>G (p.Ile483Val) rs1367720345 0.00001
NM_001172509.2(SATB2):c.1543-10C>G rs747190227 0.00001
NM_001172509.2(SATB2):c.1543-6C>G rs1328592029 0.00001
NM_001172509.2(SATB2):c.156C>T (p.Ala52=) rs1401683566 0.00001
NM_001172509.2(SATB2):c.1624C>T (p.Arg542Cys) rs767163210 0.00001
NM_001172509.2(SATB2):c.1627C>T (p.Arg543Cys) rs756719862 0.00001
NM_001172509.2(SATB2):c.1656G>A (p.Arg552=) rs763647963 0.00001
NM_001172509.2(SATB2):c.1671G>C (p.Glu557Asp) rs377609161 0.00001
NM_001172509.2(SATB2):c.169+7G>A rs1038173269 0.00001
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001172509.2(SATB2):c.1734G>A (p.Pro578=) rs937895148 0.00001
NM_001172509.2(SATB2):c.223T>C (p.Tyr75His) rs760905348 0.00001
NM_001172509.2(SATB2):c.267A>G (p.Lys89=) rs991579763 0.00001
NM_001172509.2(SATB2):c.303C>G (p.Leu101=) rs770551232 0.00001
NM_001172509.2(SATB2):c.33G>A (p.Arg11=) rs1361297597 0.00001
NM_001172509.2(SATB2):c.342C>A (p.Ala114=) rs756540212 0.00001
NM_001172509.2(SATB2):c.346+15C>T rs1389213053 0.00001
NM_001172509.2(SATB2):c.372C>T (p.Asn124=) rs770710917 0.00001
NM_001172509.2(SATB2):c.389A>G (p.Tyr130Cys) rs372822699 0.00001
NM_001172509.2(SATB2):c.391G>C (p.Val131Leu) rs1689785051 0.00001
NM_001172509.2(SATB2):c.410C>T (p.Ala137Val) rs746240750 0.00001
NM_001172509.2(SATB2):c.441T>C (p.Tyr147=) rs367590994 0.00001
NM_001172509.2(SATB2):c.454T>C (p.Leu152=) rs759337821 0.00001
NM_001172509.2(SATB2):c.474-16T>C rs754983790 0.00001
NM_001172509.2(SATB2):c.482A>G (p.Lys161Arg) rs1360355424 0.00001
NM_001172509.2(SATB2):c.501G>A (p.Ala167=) rs761351033 0.00001
NM_001172509.2(SATB2):c.588T>C (p.Pro196=) rs1689733456 0.00001
NM_001172509.2(SATB2):c.597+4A>G rs777983427 0.00001
NM_001172509.2(SATB2):c.598-10T>C rs995048972 0.00001
NM_001172509.2(SATB2):c.638A>G (p.Asn213Ser) rs1371535617 0.00001
NM_001172509.2(SATB2):c.639T>C (p.Asn213=) rs1409791746 0.00001
NM_001172509.2(SATB2):c.650C>T (p.Thr217Ile) rs777062011 0.00001
NM_001172509.2(SATB2):c.71A>G (p.Lys24Arg) rs1176416627 0.00001
NM_001172509.2(SATB2):c.732C>A (p.Asp244Glu) rs766855879 0.00001
NM_001172509.2(SATB2):c.739G>A (p.Val247Ile) rs767767817 0.00001
NM_001172509.2(SATB2):c.743T>G (p.Leu248Arg) rs200620268 0.00001
NM_001172509.2(SATB2):c.76C>G (p.Pro26Ala) rs1473042227 0.00001
NM_001172509.2(SATB2):c.771T>G (p.Asn257Lys) rs1000649173 0.00001
NM_001172509.2(SATB2):c.772A>G (p.Met258Val) rs200074373 0.00001
NM_001172509.2(SATB2):c.799A>G (p.Thr267Ala) rs1410113037 0.00001
NM_001172509.2(SATB2):c.804C>T (p.Asn268=) rs760068691 0.00001
NM_001172509.2(SATB2):c.894T>A (p.Leu298=) rs199530574 0.00001
NM_001172509.2(SATB2):c.94G>A (p.Ala32Thr) rs1461281024 0.00001
GRCh37/hg19 2q33.1(chr2:200188260-200214121)x1
GRCh37/hg19 2q33.1(chr2:200213361-200233633)
NC_000002.11:g.(?_200136914)_(200298257_?)dup
NC_000002.11:g.(?_200136914)_(200320780_?)del
NC_000002.11:g.(?_200136934)_(200246563_?)dup
NC_000002.11:g.(?_200136934)_(200320760_?)dup
NC_000002.11:g.(?_200173463)_(200320760_?)del
NC_000002.11:g.(?_200173463)_(200320780_?)dup
NC_000002.11:g.(?_200213424)_(200246543_?)dup
NC_000002.11:g.(?_200245067)_(200320760_?)dup
NC_000002.11:g.(?_200320572)_(200320780_?)dup
NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dup
NC_000002.12:g.(?_199348681)_(199433534_?)del
NC_000002.12:g.(?_199380344)_(199433534_?)dup
NM_001172509.1(SATB2):c.170_346dup rs2105928778
NM_001172509.2(SATB2):c.1003A>G (p.Ile335Val)
NM_001172509.2(SATB2):c.1005C>T (p.Ile335=) rs2105823089
NM_001172509.2(SATB2):c.1007A>G (p.Asn336Ser)
NM_001172509.2(SATB2):c.1008C>T (p.Asn336=)
NM_001172509.2(SATB2):c.1016del (p.Phe339fs)
NM_001172509.2(SATB2):c.1019del (p.Leu340fs)
NM_001172509.2(SATB2):c.1053A>G (p.Pro351=)
NM_001172509.2(SATB2):c.1059A>C (p.Pro353=) rs1277703220
NM_001172509.2(SATB2):c.1064A>C (p.Asn355Thr) rs1283962528
NM_001172509.2(SATB2):c.1074G>T (p.Val358=)
NM_001172509.2(SATB2):c.1075G>C (p.Glu359Gln)
NM_001172509.2(SATB2):c.1082C>T (p.Ser361Phe)
NM_001172509.2(SATB2):c.108G>C (p.Gln36His)
NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs) rs1574532220
NM_001172509.2(SATB2):c.1105_1106insT (p.Arg369fs)
NM_001172509.2(SATB2):c.1118A>G (p.Lys373Arg)
NM_001172509.2(SATB2):c.1127G>T (p.Ser376Ile) rs1688727085
NM_001172509.2(SATB2):c.1128T>C (p.Ser376=) rs776791250
NM_001172509.2(SATB2):c.112G>T (p.Gly38Cys) rs1458922428
NM_001172509.2(SATB2):c.1131_1132del (p.Ser378fs) rs875989830
NM_001172509.2(SATB2):c.1135C>T (p.Gln379Ter) rs1688726794
NM_001172509.2(SATB2):c.1142T>G (p.Val381Gly) rs1559174854
NM_001172509.2(SATB2):c.1153del (p.Val385fs) rs2105822848
NM_001172509.2(SATB2):c.1155G>A (p.Val385=)
NM_001172509.2(SATB2):c.115dup (p.Ser39fs)
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001172509.2(SATB2):c.1166G>T (p.Arg389Leu) rs1247886882
NM_001172509.2(SATB2):c.1169C>T (p.Thr390Ile) rs863224917
NM_001172509.2(SATB2):c.1171C>T (p.Gln391Ter) rs1559174813
NM_001172509.2(SATB2):c.1172A>C (p.Gln391Pro) rs2105822776
NM_001172509.2(SATB2):c.1173+10G>A
NM_001172509.2(SATB2):c.1173+8T>A rs2105822763
NM_001172509.2(SATB2):c.1174-12C>G
NM_001172509.2(SATB2):c.1174-13C>A
NM_001172509.2(SATB2):c.1174-16del rs555268633
NM_001172509.2(SATB2):c.1174-16dup
NM_001172509.2(SATB2):c.1174-18T>C
NM_001172509.2(SATB2):c.1174-2A>G
NM_001172509.2(SATB2):c.1174G>A (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.1179G>A (p.Leu393=)
NM_001172509.2(SATB2):c.117C>T (p.Ser39=)
NM_001172509.2(SATB2):c.1186G>C (p.Glu396Gln) rs1559164403
NM_001172509.2(SATB2):c.1187A>G (p.Glu396Gly) rs1688108235
NM_001172509.2(SATB2):c.118C>A (p.Pro40Thr)
NM_001172509.2(SATB2):c.118C>G (p.Pro40Ala) rs1191904885
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys) rs1574511051
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) rs1057518190
NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro) rs1057518190
NM_001172509.2(SATB2):c.1203A>G (p.Glu401=) rs1574511020
NM_001172509.2(SATB2):c.1204G>A (p.Glu402Lys)
NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs) rs1574510975
NM_001172509.2(SATB2):c.1221C>T (p.Ala407=)
NM_001172509.2(SATB2):c.1226A>G (p.Gln409Arg)
NM_001172509.2(SATB2):c.1226_1234del (p.Gln409_Leu411del)
NM_001172509.2(SATB2):c.1244T>C (p.Leu415Pro) rs2105795469
NM_001172509.2(SATB2):c.1247G>A (p.Arg416Lys) rs1341868380
NM_001172509.2(SATB2):c.1249del (p.Ala417fs)
NM_001172509.2(SATB2):c.1252A>G (p.Met418Val) rs1574510913
NM_001172509.2(SATB2):c.1276_1277inv (p.Glu426Ser)
NM_001172509.2(SATB2):c.1278A>C (p.Glu426Asp) rs775219160
NM_001172509.2(SATB2):c.1279G>T (p.Val427Leu) rs1306994967
NM_001172509.2(SATB2):c.1280T>C (p.Val427Ala) rs2105795391
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter) rs886041847
NM_001172509.2(SATB2):c.1290T>C (p.Asp430=)
NM_001172509.2(SATB2):c.1291C>T (p.Arg431Cys)
NM_001172509.2(SATB2):c.1298A>C (p.Tyr433Ser) rs1688103993
NM_001172509.2(SATB2):c.1307A>T (p.Glu436Val) rs1688103803
NM_001172509.2(SATB2):c.1321A>G (p.Met441Val)
NM_001172509.2(SATB2):c.1328C>T (p.Pro443Leu)
NM_001172509.2(SATB2):c.1329_1347dup (p.Ser450fs) rs1688101934
NM_001172509.2(SATB2):c.1331A>G (p.Asn444Ser)
NM_001172509.2(SATB2):c.1332T>C (p.Asn444=) rs955130914
NM_001172509.2(SATB2):c.1346C>T (p.Ser449Phe) rs1323623166
NM_001172509.2(SATB2):c.1349C>T (p.Ser450Leu)
NM_001172509.2(SATB2):c.1350G>A (p.Ser450=)
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.1387-10C>T rs1574506260
NM_001172509.2(SATB2):c.1387-27ATT[2]
NM_001172509.2(SATB2):c.1389C>T (p.Ala463=)
NM_001172509.2(SATB2):c.138del (p.Arg46fs)
NM_001172509.2(SATB2):c.1391A>G (p.Lys464Arg)
NM_001172509.2(SATB2):c.1396T>A (p.Ser466Thr) rs1402503767
NM_001172509.2(SATB2):c.1401A>G (p.Thr467=)
NM_001172509.2(SATB2):c.1405A>C (p.Thr469Pro)
NM_001172509.2(SATB2):c.1407A>G (p.Thr469=) rs373031055
NM_001172509.2(SATB2):c.1407A>T (p.Thr469=) rs373031055
NM_001172509.2(SATB2):c.140C>T (p.Pro47Leu) rs1692259118
NM_001172509.2(SATB2):c.1410A>G (p.Thr470=) rs2105789287
NM_001172509.2(SATB2):c.1413C>T (p.Asp471=)
NM_001172509.2(SATB2):c.1420A>G (p.Ile474Val) rs765116524
NM_001172509.2(SATB2):c.1423_1424insCTTAAT (p.Lys475delinsThrTer)
NM_001172509.2(SATB2):c.1426G>T (p.Val476Leu)
NM_001172509.2(SATB2):c.1431C>T (p.Asp477=) rs765952558
NM_001172509.2(SATB2):c.1432G>A (p.Gly478Ser) rs1043250716
NM_001172509.2(SATB2):c.143A>C (p.Asn48Thr)
NM_001172509.2(SATB2):c.1441A>G (p.Ile481Val) rs1559161533
NM_001172509.2(SATB2):c.1443C>T (p.Ile481=)
NM_001172509.2(SATB2):c.1452A>G (p.Thr484=) rs2105789191
NM_001172509.2(SATB2):c.1453G>C (p.Ala485Pro)
NM_001172509.2(SATB2):c.1459A>G (p.Ile487Val)
NM_001172509.2(SATB2):c.1476A>T (p.Gln492His)
NM_001172509.2(SATB2):c.147C>T (p.Gly49=)
NM_001172509.2(SATB2):c.1481A>T (p.Glu494Val) rs1057524205
NM_001172509.2(SATB2):c.1481_1491del (p.Glu494fs)
NM_001172509.2(SATB2):c.1486A>G (p.Lys496Glu)
NM_001172509.2(SATB2):c.148G>T (p.Ala50Ser)
NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter) rs878853163
NM_001172509.2(SATB2):c.1497G>A (p.Lys499=)
NM_001172509.2(SATB2):c.14G>A (p.Ser5Asn)
NM_001172509.2(SATB2):c.1503T>C (p.Ser501=)
NM_001172509.2(SATB2):c.1504del (p.Gln502fs) rs1687958384
NM_001172509.2(SATB2):c.150C>G (p.Ala50=) rs778660613
NM_001172509.2(SATB2):c.150C>T (p.Ala50=) rs778660613
NM_001172509.2(SATB2):c.150del (p.Val51fs) rs2105957137
NM_001172509.2(SATB2):c.1524G>C (p.Val508=) rs1574506012
NM_001172509.2(SATB2):c.1538G>A (p.Ser513Asn) rs1687957552
NM_001172509.2(SATB2):c.1542+18A>C rs1687956913
NM_001172509.2(SATB2):c.1542+9T>C rs1306705746
NM_001172509.2(SATB2):c.1543-18G>A
NM_001172509.2(SATB2):c.1543-19C>T
NM_001172509.2(SATB2):c.1543G>A (p.Gly515Ser) rs1553544187
NM_001172509.2(SATB2):c.1551G>A (p.Leu517=) rs760937399
NM_001172509.2(SATB2):c.1555G>A (p.Glu519Lys)
NM_001172509.2(SATB2):c.1558C>G (p.Leu520Val)
NM_001172509.2(SATB2):c.1558C>T (p.Leu520=)
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys) rs1223371144
NM_001172509.2(SATB2):c.1569G>A (p.Trp523Ter)
NM_001172509.2(SATB2):c.1577A>T (p.Asn526Ile) rs2105769212
NM_001172509.2(SATB2):c.158A>G (p.Lys53Arg)
NM_001172509.2(SATB2):c.1592dup (p.Asn531fs) rs1553544158
NM_001172509.2(SATB2):c.1594C>T (p.Arg532Cys) rs2105769188
NM_001172509.2(SATB2):c.1595G>A (p.Arg532His) rs1574492405
NM_001172509.2(SATB2):c.15C>A (p.Ser5Arg)
NM_001172509.2(SATB2):c.15C>G (p.Ser5Arg)
NM_001172509.2(SATB2):c.1600C>T (p.Leu534Phe) rs2105769179
NM_001172509.2(SATB2):c.1610_1611del (p.Asn537fs) rs1687515795
NM_001172509.2(SATB2):c.1610del (p.Asn537fs) rs1574492395
NM_001172509.2(SATB2):c.1624dup (p.Arg542fs)
NM_001172509.2(SATB2):c.1625G>A (p.Arg542His) rs2105769137
NM_001172509.2(SATB2):c.1627del (p.Arg543fs) rs1135401803
NM_001172509.2(SATB2):c.1628G>A (p.Arg543His)
NM_001172509.2(SATB2):c.162C>T (p.Ala54=) rs2105957105
NM_001172509.2(SATB2):c.1634T>C (p.Leu545Pro)
NM_001172509.2(SATB2):c.1639C>T (p.Leu547Phe)
NM_001172509.2(SATB2):c.1642C>T (p.Pro548Ser)
NM_001172509.2(SATB2):c.164T>C (p.Val55Ala)
NM_001172509.2(SATB2):c.1658A>G (p.Asp553Gly)
NM_001172509.2(SATB2):c.1662C>T (p.Val554=)
NM_001172509.2(SATB2):c.1681A>G (p.Arg561Gly)
NM_001172509.2(SATB2):c.169+14G>A
NM_001172509.2(SATB2):c.169+9C>T
NM_001172509.2(SATB2):c.1695C>T (p.Ser565=) rs1687513099
NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys) rs1064795530
NM_001172509.2(SATB2):c.170-11T>C
NM_001172509.2(SATB2):c.170-17G>T
NM_001172509.2(SATB2):c.170-2A>G
NM_001172509.2(SATB2):c.1701C>T (p.Arg567=) rs2105768987
NM_001172509.2(SATB2):c.1702A>T (p.Met568Leu)
NM_001172509.2(SATB2):c.1705dup (p.Gln569fs) rs2105768966
NM_001172509.2(SATB2):c.1710C>T (p.His570=) rs764708410
NM_001172509.2(SATB2):c.1711G>A (p.Val571Met) rs188013011
NM_001172509.2(SATB2):c.1726C>A (p.Pro576Thr)
NM_001172509.2(SATB2):c.1726C>G (p.Pro576Ala)
NM_001172509.2(SATB2):c.1727del (p.Pro576fs) rs1687511465
NM_001172509.2(SATB2):c.1728T>C (p.Pro576=) rs1452404773
NM_001172509.2(SATB2):c.1731G>A (p.Glu577=)
NM_001172509.2(SATB2):c.1732C>A (p.Pro578Thr)
NM_001172509.2(SATB2):c.1735G>T (p.Val579Leu)
NM_001172509.2(SATB2):c.1740+11C>T
NM_001172509.2(SATB2):c.1740+13G>A
NM_001172509.2(SATB2):c.1740+16C>A
NM_001172509.2(SATB2):c.1740+17G>A
NM_001172509.2(SATB2):c.1740+20_1740+29del rs749467784
NM_001172509.2(SATB2):c.1740+8T>C rs2105768843
NM_001172509.2(SATB2):c.201G>A (p.Glu67=) rs924915744
NM_001172509.2(SATB2):c.202C>G (p.Gln68Glu)
NM_001172509.2(SATB2):c.204G>A (p.Gln68=) rs2105929040
NM_001172509.2(SATB2):c.205T>C (p.Leu69=) rs745323861
NM_001172509.2(SATB2):c.214T>C (p.Ser72Pro)
NM_001172509.2(SATB2):c.215C>G (p.Ser72Cys)
NM_001172509.2(SATB2):c.225T>A (p.Tyr75Ter) rs1357010510
NM_001172509.2(SATB2):c.225T>C (p.Tyr75=) rs1357010510
NM_001172509.2(SATB2):c.232A>C (p.Arg78=)
NM_001172509.2(SATB2):c.233G>A (p.Arg78Lys) rs767582582
NM_001172509.2(SATB2):c.244G>T (p.Ala82Ser)
NM_001172509.2(SATB2):c.246C>T (p.Ala82=) rs146889022
NM_001172509.2(SATB2):c.263G>A (p.Arg88Gln) rs530118484
NM_001172509.2(SATB2):c.266A>G (p.Lys89Arg)
NM_001172509.2(SATB2):c.273G>A (p.Val91=)
NM_001172509.2(SATB2):c.275T>C (p.Leu92Pro)
NM_001172509.2(SATB2):c.282C>T (p.Ser94=)
NM_001172509.2(SATB2):c.282_289dup (p.Val97fs) rs2105928888
NM_001172509.2(SATB2):c.297T>C (p.Thr99=) rs2105928877
NM_001172509.2(SATB2):c.304C>T (p.Leu102=) rs1574625153
NM_001172509.2(SATB2):c.318T>C (p.Tyr106=) rs1330378388
NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter) rs1330378388
NM_001172509.2(SATB2):c.332C>T (p.Ala111Val)
NM_001172509.2(SATB2):c.333G>A (p.Ala111=) rs140116634
NM_001172509.2(SATB2):c.334G>A (p.Ala112Thr) rs2105928809
NM_001172509.2(SATB2):c.343C>G (p.Gln115Glu) rs1559052032
NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter) rs1559052032
NM_001172509.2(SATB2):c.344_346+1dup
NM_001172509.2(SATB2):c.346+11C>T
NM_001172509.2(SATB2):c.346+16_346+17delinsAA
NM_001172509.2(SATB2):c.346+18C>A
NM_001172509.2(SATB2):c.346+1G>A rs2105928782
NM_001172509.2(SATB2):c.346+2T>A rs1559052017
NM_001172509.2(SATB2):c.346+2T>G rs1559052017
NM_001172509.2(SATB2):c.346+3A>T
NM_001172509.2(SATB2):c.346G>A (p.Gly116Arg)
NM_001172509.2(SATB2):c.347-20T>C rs1309984102
NM_001172509.2(SATB2):c.347-4G>A
NM_001172509.2(SATB2):c.357G>A (p.Lys119=) rs1185687010
NM_001172509.2(SATB2):c.365G>A (p.Arg122Lys)
NM_001172509.2(SATB2):c.365G>C (p.Arg122Thr) rs1182083147
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe) rs1574568704
NM_001172509.2(SATB2):c.390T>C (p.Tyr130=)
NM_001172509.2(SATB2):c.399T>G (p.Asp133Glu) rs1574568652
NM_001172509.2(SATB2):c.402A>G (p.Ala134=)
NM_001172509.2(SATB2):c.424A>G (p.Met142Val) rs751779659
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile) rs764205432
NM_001172509.2(SATB2):c.429A>G (p.Leu143=) rs758472659
NM_001172509.2(SATB2):c.429A>T (p.Leu143=) rs758472659
NM_001172509.2(SATB2):c.430C>T (p.Gln144Ter)
NM_001172509.2(SATB2):c.438C>A (p.Val146=) rs1553496383
NM_001172509.2(SATB2):c.444T>C (p.His148=)
NM_001172509.2(SATB2):c.452C>T (p.Thr151Met)
NM_001172509.2(SATB2):c.46C>A (p.Arg16=) rs937799874
NM_001172509.2(SATB2):c.473+10T>C rs1257456365
NM_001172509.2(SATB2):c.473+15_473+17del
NM_001172509.2(SATB2):c.473+16C>T
NM_001172509.2(SATB2):c.473+17A>T
NM_001172509.2(SATB2):c.473+1G>A
NM_001172509.2(SATB2):c.474-11C>G
NM_001172509.2(SATB2):c.474-14G>A
NM_001172509.2(SATB2):c.474-2A>G rs1574566973
NM_001172509.2(SATB2):c.47G>C (p.Arg16Pro)
NM_001172509.2(SATB2):c.51G>A (p.Arg17=)
NM_001172509.2(SATB2):c.526C>T (p.Arg176Cys)
NM_001172509.2(SATB2):c.537A>G (p.Leu179=) rs2105865933
NM_001172509.2(SATB2):c.540G>A (p.Lys180=) rs1459002785
NM_001172509.2(SATB2):c.543A>G (p.Glu181=)
NM_001172509.2(SATB2):c.552A>G (p.Lys184=)
NM_001172509.2(SATB2):c.553_554insT (p.Glu185fs) rs1574566833
NM_001172509.2(SATB2):c.554del (p.Glu185fs) rs2105865877
NM_001172509.2(SATB2):c.555G>T (p.Glu185Asp)
NM_001172509.2(SATB2):c.562C>T (p.Gln188Ter) rs1391758713
NM_001172509.2(SATB2):c.581_584del (p.Glu194fs)
NM_001172509.2(SATB2):c.588_595del (p.Leu197fs) rs2105865785
NM_001172509.2(SATB2):c.591C>T (p.Leu197=) rs1574566787
NM_001172509.2(SATB2):c.594C>G (p.Ser198=) rs747345430
NM_001172509.2(SATB2):c.597+15G>A
NM_001172509.2(SATB2):c.597+18G>A
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001172509.2(SATB2):c.597+20G>A
NM_001172509.2(SATB2):c.598-13T>C
NM_001172509.2(SATB2):c.598-13dup rs199978702
NM_001172509.2(SATB2):c.598-17A>G
NM_001172509.2(SATB2):c.598-2A>G rs1574554519
NM_001172509.2(SATB2):c.598-4T>C
NM_001172509.2(SATB2):c.598-4del rs199978702
NM_001172509.2(SATB2):c.612C>T (p.Ser204=) rs2105850112
NM_001172509.2(SATB2):c.622dup (p.Ser208fs)
NM_001172509.2(SATB2):c.627A>G (p.Thr209=) rs1689357972
NM_001172509.2(SATB2):c.630T>G (p.Tyr210Ter) rs2105850080
NM_001172509.2(SATB2):c.634G>T (p.Ala212Ser)
NM_001172509.2(SATB2):c.63G>A (p.Pro21=) rs2105957272
NM_001172509.2(SATB2):c.642_643dup (p.Ser215fs)
NM_001172509.2(SATB2):c.663G>A (p.Glu221=)
NM_001172509.2(SATB2):c.665T>C (p.Phe222Ser)
NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter) rs1553493553
NM_001172509.2(SATB2):c.678T>C (p.Tyr226=)
NM_001172509.2(SATB2):c.67G>C (p.Val23Leu)
NM_001172509.2(SATB2):c.67G>T (p.Val23Phe)
NM_001172509.2(SATB2):c.6G>A (p.Glu2=)
NM_001172509.2(SATB2):c.700+11T>C
NM_001172509.2(SATB2):c.700+17G>A rs1689356095
NM_001172509.2(SATB2):c.700+1G>A
NM_001172509.2(SATB2):c.700+20T>C
NM_001172509.2(SATB2):c.700+5290A>G rs2105843329
NM_001172509.2(SATB2):c.700+6del rs1574554422
NM_001172509.2(SATB2):c.700+9dup
NM_001172509.2(SATB2):c.700G>A (p.Val234Met)
NM_001172509.2(SATB2):c.701-12A>C rs116585116
NM_001172509.2(SATB2):c.701-12A>T rs116585116
NM_001172509.2(SATB2):c.701-8C>T rs2105823726
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001172509.2(SATB2):c.721_722del (p.Asn241fs) rs1688740919
NM_001172509.2(SATB2):c.723C>A (p.Asn241Lys) rs752232729
NM_001172509.2(SATB2):c.723C>T (p.Asn241=)
NM_001172509.2(SATB2):c.724C>T (p.Leu242Phe)
NM_001172509.2(SATB2):c.728C>G (p.Ser243Ter)
NM_001172509.2(SATB2):c.729A>G (p.Ser243=)
NM_001172509.2(SATB2):c.732C>G (p.Asp244Glu) rs766855879
NM_001172509.2(SATB2):c.734A>G (p.Tyr245Cys)
NM_001172509.2(SATB2):c.748C>T (p.Gln250Ter) rs1558995207
NM_001172509.2(SATB2):c.74G>C (p.Gly25Ala)
NM_001172509.2(SATB2):c.750G>A (p.Gln250=) rs1688739636
NM_001172509.2(SATB2):c.752G>A (p.Arg251His) rs2105823583
NM_001172509.2(SATB2):c.75del (p.Pro26fs) rs1574645416
NM_001172509.2(SATB2):c.75dup (p.Pro26fs)
NM_001172509.2(SATB2):c.762_765dup (p.Pro256fs)
NM_001172509.2(SATB2):c.770A>G (p.Asn257Ser) rs2105823534
NM_001172509.2(SATB2):c.773T>C (p.Met258Thr)
NM_001172509.2(SATB2):c.779A>C (p.Gln260Pro)
NM_001172509.2(SATB2):c.78T>G (p.Pro26=)
NM_001172509.2(SATB2):c.790C>T (p.Leu264=) rs1316738790
NM_001172509.2(SATB2):c.792G>A (p.Leu264=)
NM_001172509.2(SATB2):c.801C>T (p.Thr267=)
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser) rs375141410
NM_001172509.2(SATB2):c.805G>T (p.Glu269Ter)
NM_001172509.2(SATB2):c.806A>C (p.Glu269Ala)
NM_001172509.2(SATB2):c.813T>C (p.Ser271=) rs777362152
NM_001172509.2(SATB2):c.81C>T (p.Pro27=)
NM_001172509.2(SATB2):c.823C>T (p.Gln275Ter) rs1688736712
NM_001172509.2(SATB2):c.825A>G (p.Gln275=) rs995750176
NM_001172509.2(SATB2):c.829C>G (p.His277Asp)
NM_001172509.2(SATB2):c.833A>G (p.His278Arg) rs1688736232
NM_001172509.2(SATB2):c.841C>G (p.Pro281Ala) rs752392251
NM_001172509.2(SATB2):c.844A>G (p.Ile282Val) rs1688735770
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter) rs797044874
NM_001172509.2(SATB2):c.848G>A (p.Arg283Gln)
NM_001172509.2(SATB2):c.855A>G (p.Gln285=) rs904363589
NM_001172509.2(SATB2):c.859C>T (p.Pro287Ser) rs768080548
NM_001172509.2(SATB2):c.861C>T (p.Pro287=) rs762230959
NM_001172509.2(SATB2):c.866T>G (p.Leu289Ter)
NM_001172509.2(SATB2):c.874A>C (p.Ile292Leu)
NM_001172509.2(SATB2):c.879G>A (p.Met293Ile)
NM_001172509.2(SATB2):c.881G>A (p.Ser294Asn)
NM_001172509.2(SATB2):c.889C>T (p.Leu297Phe) rs759677622
NM_001172509.2(SATB2):c.88A>G (p.Lys30Glu) rs1574645369
NM_001172509.2(SATB2):c.8G>C (p.Arg3Pro)
NM_001172509.2(SATB2):c.909T>C (p.Ser303=)
NM_001172509.2(SATB2):c.911C>T (p.Pro304Leu) rs2105823252
NM_001172509.2(SATB2):c.912A>T (p.Pro304=)
NM_001172509.2(SATB2):c.913C>T (p.Gln305Ter)
NM_001172509.2(SATB2):c.917T>A (p.Leu306His) rs1688732391
NM_001172509.2(SATB2):c.91G>A (p.Val31Met)
NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter) rs1574532452
NM_001172509.2(SATB2):c.927A>C (p.Gln309His)
NM_001172509.2(SATB2):c.927A>G (p.Gln309=)
NM_001172509.2(SATB2):c.942C>G (p.Ala314=)
NM_001172509.2(SATB2):c.955C>T (p.Gln319Ter)
NM_001172509.2(SATB2):c.966C>A (p.Ala322=) rs139350909
NM_001172509.2(SATB2):c.966C>T (p.Ala322=)
NM_001172509.2(SATB2):c.967G>A (p.Val323Ile)
NM_001172509.2(SATB2):c.972C>T (p.Ser324=)
NM_001172509.2(SATB2):c.974G>A (p.Arg325Gln) rs1559175031
NM_001172509.2(SATB2):c.982G>T (p.Ala328Ser)
NM_001172509.2(SATB2):c.983C>A (p.Ala328Asp) rs2105823140
NM_001172509.2(SATB2):c.994C>A (p.Pro332Thr)
NM_001172509.2(SATB2):c.996T>A (p.Pro332=)
NM_001172509.2(SATB2):c.9G>A (p.Arg3=) rs1204178808

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