ClinVar Miner

List of variants in gene PCDH19 studied for Global developmental delay; Long palpebral fissure; Delayed speech and language development; Strabismus; Prominent fingertip pads; Generalized tonic-clonic seizures; Absence seizures; Generalized seizures; Hand tremor; Frontal cortical atrophy; Temporal cortical atrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412

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