ClinVar Miner

List of variants reported as likely pathogenic for STAG2-related disorder

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Total variants: 5
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HGVS dbSNP
GRCh38/hg38 Xq25(chrX:124061012-124094911)x1
NM_001042749.2(STAG2):c.1605T>A (p.Cys535Ter) rs1569515507
NM_001042749.2(STAG2):c.1658_1660delinsT (p.Lys553fs) rs1569515729
NM_001042749.2(STAG2):c.418C>T (p.Gln140Ter) rs1569510978
NM_001042749.2(STAG2):c.476A>G (p.Tyr159Cys) rs1569511477

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