ClinVar Miner

List of variants in gene SATB2 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln) rs886041516 0.00001
GRCh38/hg38 2q33.1(chr2:199278605-199372542)x3
GRCh38/hg38 2q33.1(chr2:199309935-199403802)x3
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
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.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.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.1393dup (p.Thr465fs) rs1553547055
NM_001172509.2(SATB2):c.1515_1516insA (p.Ala506fs) rs1553546975
NM_001172509.2(SATB2):c.1515del (p.Phe505fs) rs886039740
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys) rs1223371144
NM_001172509.2(SATB2):c.1573G>A (p.Glu525Lys)
NM_001172509.2(SATB2):c.163del (p.Val55fs) rs1574645299
NM_001172509.2(SATB2):c.19dup (p.Ser7fs) rs1553507389
NM_001172509.2(SATB2):c.337C>T (p.Gln113Ter) rs1559052053
NM_001172509.2(SATB2):c.369del (p.Arg122_Trp123insTer) rs1553496413
NM_001172509.2(SATB2):c.482del (p.Lys161fs) rs1064793820
NM_001172509.2(SATB2):c.509G>A (p.Trp170Ter) rs2105865970
NM_001172509.2(SATB2):c.568dup (p.Thr190fs) rs1553496051
NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter) rs1553493553
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001172509.2(SATB2):c.83del (p.Pro28fs) rs886041685
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.997C>T (p.Gln333Ter) rs1424984467

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