ClinVar Miner

List of variants reported as likely pathogenic for STAG1-related disorder

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Total variants: 10
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HGVS dbSNP
NM_005862.3(STAG1):c.1052T>G (p.Leu351Trp) rs1553727865
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.2936A>G (p.Lys979Arg) rs1471479119
NM_005862.3(STAG1):c.641A>G (p.Gln214Arg) rs1553738694
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) rs1553738686
NM_005862.3(STAG1):c.659A>G (p.His220Arg) rs1057519153
NM_005862.3(STAG1):c.997A>C (p.Lys333Gln) rs1553728634

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