List of variants in gene SATB2 reported as pathogenic by Diagnostic Laboratory, Strasbourg University Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys)	rs1574511051
NM_001172509.2(SATB2):c.1538G>A (p.Ser513Asn)	rs1687957552
NM_001172509.2(SATB2):c.1610_1611del (p.Asn537fs)	rs1687515795
NM_001172509.2(SATB2):c.1727del (p.Pro576fs)	rs1687511465
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)	rs137853127

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