ClinVar Miner

List of variants in gene CDKL5 studied for Global developmental delay; Seizures; Stereotypy; Delayed speech and language development; Generalized hypotonia; Bruxism; Stereotypical hand wringing; Stereotypical body rocking

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter) rs587783405

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