ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 30 by New York Genome Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_173354.5(SIK1):c.1571C>T (p.Pro524Leu)	rs765573579	0.00004
NM_173354.5(SIK1):c.1219T>C (p.Cys407Arg)	rs746408860	0.00001
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu)	rs140222760

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