List of variants in gene STAG1 reported as pathogenic for autosomal dominant non-syndromic intellectual disability

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: 8

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HGVS	dbSNP	gnomAD frequency
NC_000003.11:g.136254742_136427833del
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)	rs1376334317
NM_005862.3(STAG1):c.1433A>C (p.His478Pro)	rs1553722309
NM_005862.3(STAG1):c.1460_1464dup (p.Trp489fs)	rs1553722294
NM_005862.3(STAG1):c.1736dup (p.Ser580fs)	rs1553718528
NM_005862.3(STAG1):c.260del (p.Leu87fs)	rs1576656734
NM_005862.3(STAG1):c.391C>T (p.Arg131Ter)	rs1937166346
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly)	rs1553738686

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