ClinVar Miner

List of variants reported as pathogenic for X-linked intellectual disability-hypotonia-movement disorder syndrome by Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_001356.4(DDX3X):c.1099dup (p.Gln367fs) rs1555953819
NM_001356.4(DDX3X):c.1429C>G (p.Gln477Glu) rs1555954105
NM_001356.4(DDX3X):c.770dup (p.Asn257fs) rs1555953398

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