List of variants in gene CASK reported as likely benign by Ambry Genetics

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)	rs137852820	0.00026
NM_001367721.1(CASK):c.2172T>C (p.Asp724=)	rs199730401	0.00013
NM_001367721.1(CASK):c.2175T>C (p.Leu725=)	rs757563548	0.00009
NM_001367721.1(CASK):c.2670C>T (p.Phe890=)	rs773214246	0.00006
NM_001367721.1(CASK):c.195C>T (p.Ile65=)	rs769320891	0.00005
NM_001367721.1(CASK):c.582G>A (p.Glu194=)	rs774107615	0.00005
NM_001367721.1(CASK):c.2508C>T (p.Asp836=)	rs375734729	0.00003
NM_001367721.1(CASK):c.2511G>C (p.Val837=)	rs1434791938	0.00002
NM_001367721.1(CASK):c.1503+3A>G	rs1468715588	0.00001
NM_001367721.1(CASK):c.1236A>G (p.Val412=)
NM_001367721.1(CASK):c.1650A>G (p.Glu550=)
NM_001367721.1(CASK):c.1680G>A (p.Arg560=)
NM_001367721.1(CASK):c.2781G>A (p.Ter927=)
NM_001367721.1(CASK):c.372G>A (p.Gln124=)	rs1162518702
NM_001367721.1(CASK):c.546A>T (p.Thr182=)	rs1569380048
NM_001367721.1(CASK):c.612G>T (p.Gly204=)	rs761992730

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