List of variants in gene SIK1 reported as likely pathogenic for Developmental and epileptic encephalopathy, 30

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_173354.5(SIK1):c.1373del (p.Gln458fs)	rs2516965790
NM_173354.5(SIK1):c.1839C>A (p.Cys613Ter)	rs2516964679
NM_173354.5(SIK1):c.538_539del (p.Leu180fs)

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