List of variants in gene CASK reported as pathogenic by OMIM

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)	rs137852820	0.00026
NC_000023.11:g.(41853228_41922929)(41923555_?)del
NM_001367721.1(CASK):c.1424G>T (p.Ser475Ile)	rs2147201250
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter)	rs387906705
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)	rs137852815
NM_001367721.1(CASK):c.1A>G (p.Met1Val)
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly)	rs137852818
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)	rs398122844
NM_001367721.1(CASK):c.2521-2A>G	rs398122845
NM_001367721.1(CASK):c.2521-2A>T	rs398122845
NM_001367721.1(CASK):c.2755T>C (p.Trp919Arg)	rs137852819
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)	rs387906704
NM_001367721.1(CASK):c.626T>C (p.Leu209Pro)	rs1556014749
NM_001367721.1(CASK):c.704_708delATAAG (p.Lys236fs)
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)	rs794727270
NM_001367721.1(CASK):c.802T>C (p.Tyr268His)	rs137852817
NM_001367721.1(CASK):c.83G>T (p.Arg28Leu)	rs137852816
NM_001367721.1(CASK):c.915G>A (p.Lys305=)	rs387906499

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