ClinVar Miner

List of variants in gene SATB2 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln) rs886041516 0.00001
GRCh37/hg19 2q33.1(chr2:199994308-200599890)x1
GRCh37/hg19 2q33.1(chr2:200154449-200255711)x1
GRCh37/hg19 2q33.1(chr2:200165950-200205229)
GRCh37/hg19 2q33.1(chr2:200213361-200233633)
GRCh37/hg19 2q33.1(chr2:200221989-200268498)x1
GRCh37/hg19 2q33.1(chr2:200245985-200406185)x1
GRCh38/hg38 2q33.1(chr2:199278605-199372542)x3
GRCh38/hg38 2q33.1(chr2:199309935-199403802)x3
NC_000002.11:g.(?_200136914)_(200320780_?)del
NC_000002.11:g.(?_200173463)_(200320760_?)del
NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dup
NC_000002.12:g.(?_199348681)_(199433534_?)del
NM_001172509.1(SATB2):c.170_346dup rs2105928778
NM_001172509.2(SATB2):c.1019del (p.Leu340fs)
NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs) rs1574532220
NM_001172509.2(SATB2):c.1131_1132del (p.Ser378fs) rs875989830
NM_001172509.2(SATB2):c.1135C>T (p.Gln379Ter) rs1688726794
NM_001172509.2(SATB2):c.1148del (p.Ala383fs) rs1688726478
NM_001172509.2(SATB2):c.1153del (p.Val385fs) rs2105822848
NM_001172509.2(SATB2):c.115dup (p.Ser39fs)
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001172509.2(SATB2):c.1166G>C (p.Arg389Pro)
NM_001172509.2(SATB2):c.1166G>T (p.Arg389Leu) rs1247886882
NM_001172509.2(SATB2):c.1174-1G>A rs1688108762
NM_001172509.2(SATB2):c.1174-2A>G
NM_001172509.2(SATB2):c.1174G>A (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.1187A>G (p.Glu396Gly) rs1688108235
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.1196del (p.Arg399fs) rs1553547906
NM_001172509.2(SATB2):c.1204G>A (p.Glu402Lys)
NM_001172509.2(SATB2):c.1225C>T (p.Gln409Ter) rs1688106559
NM_001172509.2(SATB2):c.1249del (p.Ala417fs)
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.1311_1314dup (p.Arg439fs) rs1559164234
NM_001172509.2(SATB2):c.1327_1330dup (p.Asn444fs)
NM_001172509.2(SATB2):c.1329_1347dup (p.Ser450fs) rs1688101934
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.138del (p.Arg46fs)
NM_001172509.2(SATB2):c.1393dup (p.Thr465fs) rs1553547055
NM_001172509.2(SATB2):c.1423_1424insCTTAAT (p.Lys475delinsThrTer)
NM_001172509.2(SATB2):c.1477C>T (p.Gln493Ter) rs1687959307
NM_001172509.2(SATB2):c.1481_1491del (p.Glu494fs)
NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter) rs878853163
NM_001172509.2(SATB2):c.1504del (p.Gln502fs) rs1687958384
NM_001172509.2(SATB2):c.150del (p.Val51fs) rs2105957137
NM_001172509.2(SATB2):c.1515_1516insA (p.Ala506fs) rs1553546975
NM_001172509.2(SATB2):c.1515del (p.Phe505fs) rs886039740
NM_001172509.2(SATB2):c.1538G>A (p.Ser513Asn) rs1687957552
NM_001172509.2(SATB2):c.1543G>A (p.Gly515Ser) rs1553544187
NM_001172509.2(SATB2):c.1555G>A (p.Glu519Lys)
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys) rs1223371144
NM_001172509.2(SATB2):c.1569G>A (p.Trp523Ter)
NM_001172509.2(SATB2):c.1573G>A (p.Glu525Lys)
NM_001172509.2(SATB2):c.1592dup (p.Asn531fs) rs1553544158
NM_001172509.2(SATB2):c.1606G>T (p.Glu536Ter)
NM_001172509.2(SATB2):c.1610_1611del (p.Asn537fs) rs1687515795
NM_001172509.2(SATB2):c.1610del (p.Asn537fs) rs1574492395
NM_001172509.2(SATB2):c.1627del (p.Arg543fs) rs1135401803
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.1705dup (p.Gln569fs) rs2105768966
NM_001172509.2(SATB2):c.1727del (p.Pro576fs) rs1687511465
NM_001172509.2(SATB2):c.1728del (p.Glu577fs) rs1687511235
NM_001172509.2(SATB2):c.19dup (p.Ser7fs) rs1553507389
NM_001172509.2(SATB2):c.225T>A (p.Tyr75Ter) rs1357010510
NM_001172509.2(SATB2):c.282_289dup (p.Val97fs) rs2105928888
NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter) rs1330378388
NM_001172509.2(SATB2):c.337C>T (p.Gln113Ter) rs1559052053
NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter) rs1559052032
NM_001172509.2(SATB2):c.344_346+1dup
NM_001172509.2(SATB2):c.346+1G>A rs2105928782
NM_001172509.2(SATB2):c.346+2T>A rs1559052017
NM_001172509.2(SATB2):c.346G>A (p.Gly116Arg)
NM_001172509.2(SATB2):c.369del (p.Arg122_Trp123insTer) rs1553496413
NM_001172509.2(SATB2):c.430C>T (p.Gln144Ter)
NM_001172509.2(SATB2):c.474-2A>G rs1574566973
NM_001172509.2(SATB2):c.482del (p.Lys161fs) rs1064793820
NM_001172509.2(SATB2):c.509G>A (p.Trp170Ter) rs2105865970
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.553_554insT (p.Glu185fs) rs1574566833
NM_001172509.2(SATB2):c.554del (p.Glu185fs) rs2105865877
NM_001172509.2(SATB2):c.562C>T (p.Gln188Ter) rs1391758713
NM_001172509.2(SATB2):c.568dup (p.Thr190fs) rs1553496051
NM_001172509.2(SATB2):c.581_584del (p.Glu194fs)
NM_001172509.2(SATB2):c.588_595del (p.Leu197fs) rs2105865785
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001172509.2(SATB2):c.622dup (p.Ser208fs)
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.715C>T (p.Arg239Ter) rs137853127
NM_001172509.2(SATB2):c.721_722del (p.Asn241fs) rs1688740919
NM_001172509.2(SATB2):c.728C>G (p.Ser243Ter)
NM_001172509.2(SATB2):c.75dup (p.Pro26fs)
NM_001172509.2(SATB2):c.762_765dup (p.Pro256fs)
NM_001172509.2(SATB2):c.808_809del (p.Gln270fs) rs1553551705
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.913C>T (p.Gln305Ter)
NM_001172509.2(SATB2):c.997C>T (p.Gln333Ter) rs1424984467

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