List of variants in gene CASK reported as pathogenic by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001367721.1(CASK):c.2317+5G>A	rs2147095645
NM_001367721.1(CASK):c.497C>A (p.Ala166Asp)	rs2519234559
NM_001367721.1(CASK):c.794_796delinsAG (p.Ile265fs)	rs2519199772

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