List of variants reported as likely pathogenic for electroclinical syndrome by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000814.6(GABRB3):c.733T>C (p.Tyr245His)	rs1890229646
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)	rs1925418549
NM_001323289.2(CDKL5):c.65G>C (p.Gly22Ala)	rs1602232972

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