ClinVar Miner

List of variants reported as likely pathogenic for SATB2 associated disorder

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(?_200213424)_(200246543_?)dup
NC_000002.11:g.(?_200320572)_(200320780_?)dup
NC_000002.12:g.(?_199380344)_(199433534_?)dup
NM_001172509.2(SATB2):c.1016del (p.Phe339fs)
NM_001172509.2(SATB2):c.1022_1029del (p.Asn341fs)
NM_001172509.2(SATB2):c.1105_1106insT (p.Arg369fs)
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001172509.2(SATB2):c.1169C>T (p.Thr390Ile) rs863224917
NM_001172509.2(SATB2):c.1172A>C (p.Gln391Pro) rs2105822776
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys) rs1574511051
NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro) rs1057518190
NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs) rs1574510975
NM_001172509.2(SATB2):c.1226A>G (p.Gln409Arg)
NM_001172509.2(SATB2):c.1226_1234del (p.Gln409_Leu411del)
NM_001172509.2(SATB2):c.1244T>C (p.Leu415Pro) rs2105795469
NM_001172509.2(SATB2):c.1298A>C (p.Tyr433Ser) rs1688103993
NM_001172509.2(SATB2):c.1307A>T (p.Glu436Val) rs1688103803
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys) rs1223371144
NM_001172509.2(SATB2):c.1624dup (p.Arg542fs)
NM_001172509.2(SATB2):c.170-2A>G
NM_001172509.2(SATB2):c.1741-2A>C
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs) rs1692192971
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001172509.2(SATB2):c.473+1G>A
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001172509.2(SATB2):c.630T>G (p.Tyr210Ter) rs2105850080
NM_001172509.2(SATB2):c.642_643dup (p.Ser215fs)
NM_001172509.2(SATB2):c.665T>C (p.Phe222Ser)
NM_001172509.2(SATB2):c.700+1G>A
NM_001172509.2(SATB2):c.700G>A (p.Val234Met)
NM_001172509.2(SATB2):c.75del (p.Pro26fs) rs1574645416
NM_001172509.2(SATB2):c.805G>T (p.Glu269Ter)
NM_001172509.2(SATB2):c.823C>T (p.Gln275Ter) rs1688736712
NM_001172509.2(SATB2):c.866T>G (p.Leu289Ter)
NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter) rs1574532452
NM_001172509.2(SATB2):c.955C>T (p.Gln319Ter)

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