ClinVar Miner

List of variants in gene SATB2 reported as not provided for syndrome caused by partial chromosomal deletion

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln) rs886041516 0.00001
NM_001172509.2(SATB2):c.1142T>G (p.Val381Gly) rs1559174854
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1171C>T (p.Gln391Ter) rs1559174813
NM_001172509.2(SATB2):c.1186G>C (p.Glu396Gln) rs1559164403
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.346+2T>G rs1559052017
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001172509.2(SATB2):c.748C>T (p.Gln250Ter) rs1558995207
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter) rs797044874

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