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

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter)	rs786205162	0.00001
NM_173354.5(SIK1):c.1039G>T (p.Glu347Ter)	rs786205160
NM_173354.5(SIK1):c.1840C>T (p.Gln614Ter)	rs786205161
NM_173354.5(SIK1):c.1906G>A (p.Gly636Ser)	rs786205163
NM_173354.5(SIK1):c.859C>A (p.Pro287Thr)	rs786205159

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