ClinVar Miner

List of variants reported as pathogenic for SATB2 associated disorder by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dup
NM_001172509.1(SATB2):c.170_346dup rs2105928778
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1543G>A (p.Gly515Ser) rs1553544187
NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys) rs1064795530
NM_001172509.2(SATB2):c.2104del (p.Asp702fs)
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127

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