ClinVar Miner

List of variants reported as likely pathogenic for X-linked intellectual disability-hypotonia-movement disorder syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NC_000023.11:g.41344090_41344091AG[2]
NC_000023.11:g.41344097dup
NC_000023.11:g.41344261G>C
NC_000023.11:g.41346570dup
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)
NM_001356.4(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001356.4(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.4(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
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.904G>A (p.Gly302Ser) rs875989802

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