ClinVar Miner

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

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Total variants: 14
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NM_001193416.3(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001193416.3(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001193416.3(DDX3X):c.887G>C (p.Arg296Pro) rs1602132216
NM_001193417.3(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.1180_1185dup (p.Arg394_Asp395dup) rs1602134468
NM_001356.4(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.4(DDX3X):c.1563dup (p.Ile522fs) rs1602136369
NM_001356.4(DDX3X):c.577G>T (p.Gly193Ter) rs875989803
NM_001356.4(DDX3X):c.820C>T (p.Pro274Ser) rs1267519974
NM_001356.4(DDX3X):c.826_827AG[2] (p.Glu277fs) rs1602131859
NM_001356.4(DDX3X):c.833dup (p.Leu278fs) rs1602131872
NM_001356.4(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488

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