ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation, X-linked 102

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Total variants: 8
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HGVS dbSNP
NM_001193416.2(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001193416.2(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001193417.2(DDX3X):c.529G>T (p.Gly177Ter) rs875989803
NM_001193417.2(DDX3X):c.856G>A (p.Gly286Ser) rs875989802
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.4(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.4(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.4(DDX3X):c.820C>T (p.Pro274Ser) rs1267519974

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