ClinVar Miner

List of variants studied for X-linked intellectual disability-hypotonia-movement disorder syndrome by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001356.4(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.4(DDX3X):c.362G>T (p.Arg121Leu) rs1057519446
NM_001363819.1(DDX3X):c.-367dup rs1057519431

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