ClinVar Miner

List of variants studied for X-linked intellectual disability-hypotonia-movement disorder syndrome by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001356.4(DDX3X):c.1084C>T (p.Arg362Cys) rs797045026
NM_001356.4(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.4(DDX3X):c.1520T>C (p.Ile507Thr) rs797045024
NM_001356.4(DDX3X):c.873C>A (p.Tyr291Ter) rs869320681
NM_001356.4(DDX3X):c.977G>A (p.Arg326His) rs797045025

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