ClinVar Miner

List of variants reported as uncertain significance for SATB2 associated disorder by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 130
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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.2182G>C (p.Ala728Pro) rs377368865 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.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.2047G>A (p.Ala683Thr) rs372032415 0.00001
NM_001172509.2(SATB2):c.2183C>G (p.Ala728Gly) rs140532313 0.00001
NM_001172509.2(SATB2):c.2196G>T (p.Gln732His) rs778160560 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.(?_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.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.14G>A (p.Ser5Asn)
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.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.1741G>A (p.Val581Ile)
NM_001172509.2(SATB2):c.1751G>A (p.Arg584Lys) rs2105707604
NM_001172509.2(SATB2):c.1754A>G (p.Gln585Arg) rs1692196085
NM_001172509.2(SATB2):c.1774G>A (p.Glu592Lys) rs2105707521
NM_001172509.2(SATB2):c.1795G>A (p.Glu599Lys)
NM_001172509.2(SATB2):c.1808C>T (p.Pro603Leu)
NM_001172509.2(SATB2):c.1843C>A (p.Pro615Thr)
NM_001172509.2(SATB2):c.1852C>T (p.Arg618Cys) rs2105707260
NM_001172509.2(SATB2):c.1865C>T (p.Ser622Phe)
NM_001172509.2(SATB2):c.1918C>T (p.Pro640Ser)
NM_001172509.2(SATB2):c.1940C>A (p.Thr647Asn)
NM_001172509.2(SATB2):c.2000G>T (p.Arg667Leu) rs1559136030
NM_001172509.2(SATB2):c.2015A>G (p.His672Arg)
NM_001172509.2(SATB2):c.2020G>A (p.Gly674Arg)
NM_001172509.2(SATB2):c.2024A>C (p.Lys675Thr)
NM_001172509.2(SATB2):c.2026C>A (p.Leu676Met)
NM_001172509.2(SATB2):c.202C>G (p.Gln68Glu)
NM_001172509.2(SATB2):c.2038C>G (p.Leu680Val)
NM_001172509.2(SATB2):c.2074G>A (p.Glu692Lys) rs1559135904
NM_001172509.2(SATB2):c.2089G>A (p.Glu697Lys)
NM_001172509.2(SATB2):c.2104G>A (p.Asp702Asn)
NM_001172509.2(SATB2):c.2119T>C (p.Ser707Pro)
NM_001172509.2(SATB2):c.2125G>A (p.Glu709Lys) rs1574458712
NM_001172509.2(SATB2):c.2126A>G (p.Glu709Gly) rs2105706602
NM_001172509.2(SATB2):c.2130G>C (p.Met710Ile) rs1286415699
NM_001172509.2(SATB2):c.214T>C (p.Ser72Pro)
NM_001172509.2(SATB2):c.2158G>A (p.Ala720Thr) rs531933724
NM_001172509.2(SATB2):c.215C>G (p.Ser72Cys)
NM_001172509.2(SATB2):c.2164A>C (p.Lys722Gln) rs2105706499
NM_001172509.2(SATB2):c.2167del (p.Ser723fs)
NM_001172509.2(SATB2):c.2174C>T (p.Ala725Val) rs767329844
NM_001172509.2(SATB2):c.2185G>A (p.Glu729Lys) rs1489038642
NM_001172509.2(SATB2):c.2189T>C (p.Ile730Thr) rs373319001
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.365G>C (p.Arg122Thr) rs1182083147
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.634G>T (p.Ala212Ser)
NM_001172509.2(SATB2):c.67G>C (p.Val23Leu)
NM_001172509.2(SATB2):c.67G>T (p.Val23Phe)
NM_001172509.2(SATB2):c.700+6del rs1574554422
NM_001172509.2(SATB2):c.723C>A (p.Asn241Lys) rs752232729
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.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.8G>C (p.Arg3Pro)
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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