ClinVar Miner

List of variants in gene SATB2 reported as likely benign for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 217
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.333G>C (p.Ala111=) rs140116634 0.00024
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.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.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.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.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.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.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.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.1212T>C (p.Pro404=) rs1486060390 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.381C>T (p.Pro127=) rs746473092 0.00002
NM_001172509.2(SATB2):c.411G>A (p.Ala137=) rs781353036 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.1320C>T (p.Ser440=) rs770384540 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.1428G>A (p.Val476=) rs753471227 0.00001
NM_001172509.2(SATB2):c.1543-10C>G rs747190227 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.1656G>A (p.Arg552=) rs763647963 0.00001
NM_001172509.2(SATB2):c.169+7G>A rs1038173269 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.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.501G>A (p.Ala167=) rs761351033 0.00001
NM_001172509.2(SATB2):c.588T>C (p.Pro196=) rs1689733456 0.00001
NM_001172509.2(SATB2):c.598-10T>C rs995048972 0.00001
NM_001172509.2(SATB2):c.639T>C (p.Asn213=) rs1409791746 0.00001
NM_001172509.2(SATB2):c.804C>T (p.Asn268=) rs760068691 0.00001
NC_000002.11:g.(?_200136934)_(200320760_?)dup
NM_001172509.2(SATB2):c.1005C>T (p.Ile335=) rs2105823089
NM_001172509.2(SATB2):c.1008C>T (p.Asn336=)
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.1128T>C (p.Ser376=) rs776791250
NM_001172509.2(SATB2):c.112G>T (p.Gly38Cys) rs1458922428
NM_001172509.2(SATB2):c.1155G>A (p.Val385=)
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.1174-18T>C
NM_001172509.2(SATB2):c.1179G>A (p.Leu393=)
NM_001172509.2(SATB2):c.117C>T (p.Ser39=)
NM_001172509.2(SATB2):c.118C>G (p.Pro40Ala) rs1191904885
NM_001172509.2(SATB2):c.1203A>G (p.Glu401=) rs1574511020
NM_001172509.2(SATB2):c.1221C>T (p.Ala407=)
NM_001172509.2(SATB2):c.1290T>C (p.Asp430=)
NM_001172509.2(SATB2):c.1332T>C (p.Asn444=) rs955130914
NM_001172509.2(SATB2):c.1350G>A (p.Ser450=)
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.1401A>G (p.Thr467=)
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.1410A>G (p.Thr470=) rs2105789287
NM_001172509.2(SATB2):c.1413C>T (p.Asp471=)
NM_001172509.2(SATB2):c.1431C>T (p.Asp477=) rs765952558
NM_001172509.2(SATB2):c.1443C>T (p.Ile481=)
NM_001172509.2(SATB2):c.1452A>G (p.Thr484=) rs2105789191
NM_001172509.2(SATB2):c.1497G>A (p.Lys499=)
NM_001172509.2(SATB2):c.1503T>C (p.Ser501=)
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.1524G>C (p.Val508=) rs1574506012
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.1551G>A (p.Leu517=) rs760937399
NM_001172509.2(SATB2):c.1558C>T (p.Leu520=)
NM_001172509.2(SATB2):c.1577A>T (p.Asn526Ile) rs2105769212
NM_001172509.2(SATB2):c.1600C>T (p.Leu534Phe) rs2105769179
NM_001172509.2(SATB2):c.162C>T (p.Ala54=) rs2105957105
NM_001172509.2(SATB2):c.1658A>G (p.Asp553Gly)
NM_001172509.2(SATB2):c.1662C>T (p.Val554=)
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.170-11T>C
NM_001172509.2(SATB2):c.170-17G>T
NM_001172509.2(SATB2):c.1701C>T (p.Arg567=) rs2105768987
NM_001172509.2(SATB2):c.1710C>T (p.His570=) rs764708410
NM_001172509.2(SATB2):c.1728T>C (p.Pro576=) rs1452404773
NM_001172509.2(SATB2):c.1731G>A (p.Glu577=)
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.204G>A (p.Gln68=) rs2105929040
NM_001172509.2(SATB2):c.205T>C (p.Leu69=) rs745323861
NM_001172509.2(SATB2):c.225T>C (p.Tyr75=) rs1357010510
NM_001172509.2(SATB2):c.232A>C (p.Arg78=)
NM_001172509.2(SATB2):c.246C>T (p.Ala82=) rs146889022
NM_001172509.2(SATB2):c.273G>A (p.Val91=)
NM_001172509.2(SATB2):c.282C>T (p.Ser94=)
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.333G>A (p.Ala111=) rs140116634
NM_001172509.2(SATB2):c.346+11C>T
NM_001172509.2(SATB2):c.346+18C>A
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.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.429A>G (p.Leu143=) rs758472659
NM_001172509.2(SATB2):c.429A>T (p.Leu143=) rs758472659
NM_001172509.2(SATB2):c.438C>A (p.Val146=) rs1553496383
NM_001172509.2(SATB2):c.444T>C (p.His148=)
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.474-11C>G
NM_001172509.2(SATB2):c.474-14G>A
NM_001172509.2(SATB2):c.51G>A (p.Arg17=)
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.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+20G>A
NM_001172509.2(SATB2):c.598-13T>C
NM_001172509.2(SATB2):c.598-17A>G
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.627A>G (p.Thr209=) rs1689357972
NM_001172509.2(SATB2):c.63G>A (p.Pro21=) rs2105957272
NM_001172509.2(SATB2):c.663G>A (p.Glu221=)
NM_001172509.2(SATB2):c.678T>C (p.Tyr226=)
NM_001172509.2(SATB2):c.6G>A (p.Glu2=)
NM_001172509.2(SATB2):c.700+11T>C
NM_001172509.2(SATB2):c.700+20T>C
NM_001172509.2(SATB2):c.700+9dup
NM_001172509.2(SATB2):c.701-8C>T rs2105823726
NM_001172509.2(SATB2):c.723C>T (p.Asn241=)
NM_001172509.2(SATB2):c.729A>G (p.Ser243=)
NM_001172509.2(SATB2):c.750G>A (p.Gln250=) rs1688739636
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.813T>C (p.Ser271=) rs777362152
NM_001172509.2(SATB2):c.81C>T (p.Pro27=)
NM_001172509.2(SATB2):c.825A>G (p.Gln275=) rs995750176
NM_001172509.2(SATB2):c.833A>G (p.His278Arg) rs1688736232
NM_001172509.2(SATB2):c.855A>G (p.Gln285=) rs904363589
NM_001172509.2(SATB2):c.861C>T (p.Pro287=) rs762230959
NM_001172509.2(SATB2):c.909T>C (p.Ser303=)
NM_001172509.2(SATB2):c.912A>T (p.Pro304=)
NM_001172509.2(SATB2):c.927A>G (p.Gln309=)
NM_001172509.2(SATB2):c.942C>G (p.Ala314=)
NM_001172509.2(SATB2):c.966C>A (p.Ala322=) rs139350909
NM_001172509.2(SATB2):c.966C>T (p.Ala322=)
NM_001172509.2(SATB2):c.972C>T (p.Ser324=)
NM_001172509.2(SATB2):c.974G>A (p.Arg325Gln) rs1559175031
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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