ClinVar Miner

List of variants in gene PTK2 studied for Autism; Epicanthus; Failure to thrive; Dental crowding; High palate; Hypertonia; Deeply set eye; Mandibular prognathia; Bulbous nose; Shallow orbits; Hypotonia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)	rs2552210353

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