ClinVar Miner

List of variants in gene SATB2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 146
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.170-76T>C rs7596597 0.93948
NM_001172509.2(SATB2):c.1543-4A>C rs10153730 0.93908
NM_001172509.2(SATB2):c.1740+171A>G rs3748904 0.78410
NM_001172509.2(SATB2):c.474-35G>C rs1348813 0.63041
NM_001172509.2(SATB2):c.473+99G>A rs2305262 0.27757
NM_001172509.2(SATB2):c.1542+295G>A rs2011269 0.17979
NM_001172509.2(SATB2):c.-59-231C>T rs13014796 0.13657
NM_001172509.2(SATB2):c.347-200A>G rs79303419 0.03310
NM_001172509.2(SATB2):c.1173+260G>C rs13387985 0.03231
NM_001172509.2(SATB2):c.597+170T>C rs72931316 0.03209
NM_001172509.2(SATB2):c.1543-119G>A rs16831258 0.01845
NM_001172509.2(SATB2):c.1740+197G>A rs78338033 0.01578
NM_001172509.2(SATB2):c.1543-218A>C rs114467079 0.00959
NM_001172509.2(SATB2):c.1740+126A>C rs114301127 0.00763
NM_001172509.2(SATB2):c.701-208T>C rs79248084 0.00687
NM_001172509.2(SATB2):c.1173+278C>G rs150912592 0.00615
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.333G>C (p.Ala111=) rs140116634 0.00024
NM_001172509.2(SATB2):c.1035C>A (p.Ile345=) rs150824088 0.00019
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.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.306G>A (p.Leu102=) rs201405384 0.00008
NM_001172509.2(SATB2):c.787T>C (p.Ser263Pro) rs12619995 0.00006
NM_001172509.2(SATB2):c.1467C>T (p.Asp489=) rs370291268 0.00004
NM_001172509.2(SATB2):c.42C>G (p.Pro14=) rs773072163 0.00004
NM_001172509.2(SATB2):c.1398G>A (p.Ser466=) rs377059710 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.1239A>G (p.Val413=) rs148608261 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.1286G>A (p.Arg429Gln) rs886041516 0.00001
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu) rs780366664 0.00001
NM_001172509.2(SATB2):c.155C>T (p.Ala52Val) rs1357016064 0.00001
NM_001172509.2(SATB2):c.170-8C>T rs771945626 0.00001
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001172509.2(SATB2):c.389A>G (p.Tyr130Cys) rs372822699 0.00001
NM_001172509.2(SATB2):c.410C>T (p.Ala137Val) rs746240750 0.00001
NM_001172509.2(SATB2):c.531T>C (p.Asn177=) rs768204353 0.00001
NM_001172509.2(SATB2):c.894T>A (p.Leu298=) rs199530574 0.00001
GRCh37/hg19 2q33.1(chr2:199994308-200599890)x1
GRCh37/hg19 2q33.1(chr2:200055323-200279449)x3
GRCh37/hg19 2q33.1(chr2:200154449-200255711)x1
GRCh37/hg19 2q33.1(chr2:200221989-200268498)x1
GRCh37/hg19 2q33.1(chr2:200245985-200406185)x1
NM_001172509.2(SATB2):c.101T>A (p.Leu34Gln)
NM_001172509.2(SATB2):c.1062_1067del (p.Asn355_Ser356del) rs2105822995
NM_001172509.2(SATB2):c.1085C>A (p.Pro362Gln) rs2105822933
NM_001172509.2(SATB2):c.1144T>C (p.Phe382Leu) rs2105822855
NM_001172509.2(SATB2):c.1148del (p.Ala383fs) rs1688726478
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001172509.2(SATB2):c.1173+301G>C rs10153573
NM_001172509.2(SATB2):c.1175G>A (p.Gly392Glu) rs1085308028
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>T (p.Arg399Leu) rs1057518190
NM_001172509.2(SATB2):c.1225C>T (p.Gln409Ter) rs1688106559
NM_001172509.2(SATB2):c.124G>T (p.Gly42Ter) rs1064793947
NM_001172509.2(SATB2):c.1253T>G (p.Met418Arg) rs1553547885
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter) rs886041847
NM_001172509.2(SATB2):c.1302G>A (p.Gln434=)
NM_001172509.2(SATB2):c.1327_1330dup (p.Asn444fs)
NM_001172509.2(SATB2):c.1341G>C (p.Met447Ile) rs1574510768
NM_001172509.2(SATB2):c.1346C>T (p.Ser449Phe) rs1323623166
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.1376G>T (p.Arg459Leu) rs2105795190
NM_001172509.2(SATB2):c.1393dup (p.Thr465fs) rs1553547055
NM_001172509.2(SATB2):c.1462T>A (p.Tyr488Asn)
NM_001172509.2(SATB2):c.1474C>T (p.Gln492Ter) rs2105789154
NM_001172509.2(SATB2):c.1481A>T (p.Glu494Val) rs1057524205
NM_001172509.2(SATB2):c.1515_1516insA (p.Ala506fs) rs1553546975
NM_001172509.2(SATB2):c.1515del (p.Phe505fs) rs886039740
NM_001172509.2(SATB2):c.1542+294_1542+295insTATATGTGTGTG rs372830951
NM_001172509.2(SATB2):c.1542+294_1542+295insTATATGTGTGTGTG rs372830951
NM_001172509.2(SATB2):c.1542+294_1542+295insTATG rs372830951
NM_001172509.2(SATB2):c.1542+294_1542+295insTATGTG rs372830951
NM_001172509.2(SATB2):c.1542+294_1542+295insTATGTGTG rs372830951
NM_001172509.2(SATB2):c.1544G>A (p.Gly515Asp) rs2105769270
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys) rs1223371144
NM_001172509.2(SATB2):c.1573G>A (p.Glu525Lys)
NM_001172509.2(SATB2):c.1590A>C (p.Glu530Asp)
NM_001172509.2(SATB2):c.1593C>A (p.Asn531Lys) rs1687516101
NM_001172509.2(SATB2):c.1594C>T (p.Arg532Cys) rs2105769188
NM_001172509.2(SATB2):c.1609A>G (p.Asn537Asp)
NM_001172509.2(SATB2):c.163del (p.Val55fs) rs1574645299
NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs) rs1553544133
NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys) rs1064795530
NM_001172509.2(SATB2):c.185T>A (p.Val62Asp) rs1064796649
NM_001172509.2(SATB2):c.19dup (p.Ser7fs) rs1553507389
NM_001172509.2(SATB2):c.1A>G (p.Met1Val) rs1553507391
NM_001172509.2(SATB2):c.201G>A (p.Glu67=) rs924915744
NM_001172509.2(SATB2):c.236A>G (p.Glu79Gly)
NM_001172509.2(SATB2):c.23C>A (p.Pro8Gln) rs2105957352
NM_001172509.2(SATB2):c.246C>T (p.Ala82=) rs146889022
NM_001172509.2(SATB2):c.287T>G (p.Leu96Arg) rs1064795247
NM_001172509.2(SATB2):c.300G>A (p.Ala100=)
NM_001172509.2(SATB2):c.305del (p.Leu102fs) rs1553504273
NM_001172509.2(SATB2):c.332C>T (p.Ala111Val)
NM_001172509.2(SATB2):c.337C>T (p.Gln113Ter) rs1559052053
NM_001172509.2(SATB2):c.346G>C (p.Gly116Arg) rs1131691672
NM_001172509.2(SATB2):c.366G>T (p.Arg122Ser)
NM_001172509.2(SATB2):c.369del (p.Arg122_Trp123insTer) rs1553496413
NM_001172509.2(SATB2):c.373C>T (p.Pro125Ser)
NM_001172509.2(SATB2):c.392T>A (p.Val131Glu) rs1064794638
NM_001172509.2(SATB2):c.416T>C (p.Val139Ala) rs1689783884
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile) rs764205432
NM_001172509.2(SATB2):c.446T>C (p.Val149Ala) rs765278258
NM_001172509.2(SATB2):c.46C>A (p.Arg16=) rs937799874
NM_001172509.2(SATB2):c.473+1del rs1553496358
NM_001172509.2(SATB2):c.482del (p.Lys161fs) rs1064793820
NM_001172509.2(SATB2):c.509G>A (p.Trp170Ter) rs2105865970
NM_001172509.2(SATB2):c.545T>C (p.Leu182Pro) rs1064795817
NM_001172509.2(SATB2):c.550A>T (p.Lys184Ter) rs1689734840
NM_001172509.2(SATB2):c.553G>T (p.Glu185Ter) rs1689734633
NM_001172509.2(SATB2):c.568dup (p.Thr190fs) rs1553496051
NM_001172509.2(SATB2):c.575C>T (p.Ala192Val) rs2105865837
NM_001172509.2(SATB2):c.578A>G (p.Lys193Arg) rs2105865829
NM_001172509.2(SATB2):c.594C>A (p.Ser198=) rs747345430
NM_001172509.2(SATB2):c.652A>T (p.Lys218Ter) rs1689357139
NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter) rs1553493553
NM_001172509.2(SATB2):c.67G>T (p.Val23Phe)
NM_001172509.2(SATB2):c.701-12A>C rs116585116
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001172509.2(SATB2):c.722dup (p.Asn241fs) rs1688740919
NM_001172509.2(SATB2):c.752G>A (p.Arg251His) rs2105823583
NM_001172509.2(SATB2):c.797A>G (p.Lys266Arg) rs1364150345
NM_001172509.2(SATB2):c.83del (p.Pro28fs) rs886041685
NM_001172509.2(SATB2):c.841C>G (p.Pro281Ala) rs752392251
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter) rs797044874
NM_001172509.2(SATB2):c.853C>T (p.Gln285Ter) rs1559175170
NM_001172509.2(SATB2):c.868C>T (p.Gln290Ter) rs1057518496
NM_001172509.2(SATB2):c.895del (p.Ser299fs) rs1553551647
NM_001172509.2(SATB2):c.911C>G (p.Pro304Arg)
NM_001172509.2(SATB2):c.978C>A (p.Leu326=)
NM_001172509.2(SATB2):c.997C>T (p.Gln333Ter) rs1424984467
Single allele

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.