ClinVar Miner

List of variants in gene SATB2 reported as uncertain significance for chromosomal disorder

Included ClinVar conditions (197):
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Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.1660G>A (p.Val554Ile) rs1201673032 0.00003
NM_001172509.2(SATB2):c.1060A>G (p.Thr354Ala) rs764552856 0.00002
NM_001172509.2(SATB2):c.211G>A (p.Gly71Ser) rs756865617 0.00002
NM_001172509.2(SATB2):c.1000G>A (p.Ala334Thr) rs754385480 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.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.1447A>G (p.Ile483Val) rs1367720345 0.00001
NM_001172509.2(SATB2):c.1671G>C (p.Glu557Asp) rs377609161 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.391G>C (p.Val131Leu) rs1689785051 0.00001
NM_001172509.2(SATB2):c.410C>T (p.Ala137Val) rs746240750 0.00001
NM_001172509.2(SATB2):c.638A>G (p.Asn213Ser) rs1371535617 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.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.772A>G (p.Met258Val) rs200074373 0.00001
NM_001172509.2(SATB2):c.799A>G (p.Thr267Ala) rs1410113037 0.00001
NC_000002.11:g.(?_200136914)_(200298257_?)dup
NC_000002.11:g.(?_200136934)_(200246563_?)dup
NC_000002.11:g.(?_200173463)_(200320780_?)dup
NC_000002.11:g.(?_200188506)_(200193653_?)dup
NC_000002.11:g.(?_200245067)_(200320760_?)dup
NM_001172509.2(SATB2):c.1003A>G (p.Ile335Val)
NM_001172509.2(SATB2):c.1007A>G (p.Asn336Ser)
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.1118A>G (p.Lys373Arg)
NM_001172509.2(SATB2):c.1127G>T (p.Ser376Ile) rs1688727085
NM_001172509.2(SATB2):c.1174-4T>G
NM_001172509.2(SATB2):c.1247G>A (p.Arg416Lys) rs1341868380
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.1291C>T (p.Arg431Cys)
NM_001172509.2(SATB2):c.1321A>G (p.Met441Val)
NM_001172509.2(SATB2):c.1328C>T (p.Pro443Leu)
NM_001172509.2(SATB2):c.1349C>T (p.Ser450Leu)
NM_001172509.2(SATB2):c.1391A>G (p.Lys464Arg)
NM_001172509.2(SATB2):c.1396T>A (p.Ser466Thr) rs1402503767
NM_001172509.2(SATB2):c.140C>T (p.Pro47Leu) rs1692259118
NM_001172509.2(SATB2):c.1420A>G (p.Ile474Val) rs765116524
NM_001172509.2(SATB2):c.1426G>T (p.Val476Leu)
NM_001172509.2(SATB2):c.143A>C (p.Asn48Thr)
NM_001172509.2(SATB2):c.147C>T (p.Gly49=)
NM_001172509.2(SATB2):c.1481A>T (p.Glu494Val) rs1057524205
NM_001172509.2(SATB2):c.1486A>G (p.Lys496Glu)
NM_001172509.2(SATB2):c.14G>A (p.Ser5Asn)
NM_001172509.2(SATB2):c.1558C>G (p.Leu520Val)
NM_001172509.2(SATB2):c.158A>G (p.Lys53Arg)
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>G (p.Ser5Arg)
NM_001172509.2(SATB2):c.1625G>A (p.Arg542His) rs2105769137
NM_001172509.2(SATB2):c.1628G>A (p.Arg543His)
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.1681A>G (p.Arg561Gly)
NM_001172509.2(SATB2):c.1702A>T (p.Met568Leu)
NM_001172509.2(SATB2):c.1726C>A (p.Pro576Thr)
NM_001172509.2(SATB2):c.1726C>G (p.Pro576Ala)
NM_001172509.2(SATB2):c.1735G>T (p.Val579Leu)
NM_001172509.2(SATB2):c.202C>G (p.Gln68Glu)
NM_001172509.2(SATB2):c.214T>C (p.Ser72Pro)
NM_001172509.2(SATB2):c.215C>G (p.Ser72Cys)
NM_001172509.2(SATB2):c.244G>T (p.Ala82Ser)
NM_001172509.2(SATB2):c.263G>A (p.Arg88Gln) rs530118484
NM_001172509.2(SATB2):c.266A>G (p.Lys89Arg)
NM_001172509.2(SATB2):c.332C>T (p.Ala111Val)
NM_001172509.2(SATB2):c.343C>G (p.Gln115Glu) rs1559052032
NM_001172509.2(SATB2):c.353T>C (p.Ile118Thr)
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.424A>G (p.Met142Val) rs751779659
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile) rs764205432
NM_001172509.2(SATB2):c.452C>T (p.Thr151Met)
NM_001172509.2(SATB2):c.47G>C (p.Arg16Pro)
NM_001172509.2(SATB2):c.526C>T (p.Arg176Cys)
NM_001172509.2(SATB2):c.530A>G (p.Asn177Ser)
NM_001172509.2(SATB2):c.555G>T (p.Glu185Asp)
NM_001172509.2(SATB2):c.634G>T (p.Ala212Ser)
NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter) rs1553493553
NM_001172509.2(SATB2):c.67G>C (p.Val23Leu)
NM_001172509.2(SATB2):c.67G>T (p.Val23Phe)
NM_001172509.2(SATB2):c.700+17G>A rs1689356095
NM_001172509.2(SATB2):c.700+5290A>G rs2105843329
NM_001172509.2(SATB2):c.700+6del rs1574554422
NM_001172509.2(SATB2):c.701-12A>T rs116585116
NM_001172509.2(SATB2):c.723C>A (p.Asn241Lys) rs752232729
NM_001172509.2(SATB2):c.734A>G (p.Tyr245Cys)
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.803A>G (p.Asn268Ser) rs375141410
NM_001172509.2(SATB2):c.806A>C (p.Glu269Ala)
NM_001172509.2(SATB2):c.829C>G (p.His277Asp)
NM_001172509.2(SATB2):c.841C>G (p.Pro281Ala) rs752392251
NM_001172509.2(SATB2):c.848G>A (p.Arg283Gln)
NM_001172509.2(SATB2):c.859C>T (p.Pro287Ser) rs768080548
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.911C>T (p.Pro304Leu) rs2105823252
NM_001172509.2(SATB2):c.917T>A (p.Leu306His) rs1688732391
NM_001172509.2(SATB2):c.927A>C (p.Gln309His)
NM_001172509.2(SATB2):c.967G>A (p.Val323Ile)

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