ClinVar Miner

List of variants in gene SATB2 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.1543-4A>C rs10153730 0.93908
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.151G>A (p.Val51Met) rs540871216 0.00025
NM_001172509.2(SATB2):c.405C>T (p.Pro135=) rs150990155 0.00014
NM_001172509.2(SATB2):c.862G>A (p.Ala288Thr) rs142825652 0.00012
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.1173+4C>A rs376920785 0.00005
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.756A>G (p.Pro252=) rs375364851 0.00002
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.732C>A (p.Asp244Glu) rs766855879 0.00001
NM_001172509.2(SATB2):c.771T>G (p.Asn257Lys) rs1000649173 0.00001
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001172509.2(SATB2):c.1174-1G>A rs1688108762
NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro) rs1057518190
NM_001172509.2(SATB2):c.1196del (p.Arg399fs) rs1553547906
NM_001172509.2(SATB2):c.1253T>G (p.Met418Arg) rs1553547885
NM_001172509.2(SATB2):c.1311_1314dup (p.Arg439fs) rs1559164234
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.1432G>A (p.Gly478Ser) rs1043250716
NM_001172509.2(SATB2):c.1477C>T (p.Gln493Ter) rs1687959307
NM_001172509.2(SATB2):c.150C>T (p.Ala50=) rs778660613
NM_001172509.2(SATB2):c.1520A>C (p.Lys507Thr)
NM_001172509.2(SATB2):c.1565G>T (p.Arg522Leu)
NM_001172509.2(SATB2):c.157A>G (p.Lys53Glu)
NM_001172509.2(SATB2):c.1582A>G (p.Ser528Gly) rs1490098266
NM_001172509.2(SATB2):c.1606G>T (p.Glu536Ter)
NM_001172509.2(SATB2):c.1635G>T (p.Leu545=)
NM_001172509.2(SATB2):c.163G>A (p.Val55Met)
NM_001172509.2(SATB2):c.1728del (p.Glu577fs) rs1687511235
NM_001172509.2(SATB2):c.1730_1731del (p.Glu577fs) rs1553544102
NM_001172509.2(SATB2):c.1732C>A (p.Pro578Thr)
NM_001172509.2(SATB2):c.244G>T (p.Ala82Ser)
NM_001172509.2(SATB2):c.255C>T (p.Val85=)
NM_001172509.2(SATB2):c.266A>G (p.Lys89Arg)
NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter) rs1559052032
NM_001172509.2(SATB2):c.598-4del rs199978702
NM_001172509.2(SATB2):c.808_809del (p.Gln270fs) rs1553551705
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.862G>T (p.Ala288Ser) rs142825652
NM_001172509.2(SATB2):c.868C>T (p.Gln290Ter) rs1057518496
NM_001172509.2(SATB2):c.881G>A (p.Ser294Asn)

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.