List of variants reported as likely pathogenic for electroclinical syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp)	rs760521217	0.00003
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln)	rs1555949009	0.00001
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg)	rs1889966043
NM_000834.5(GRIN2B):c.2555G>C (p.Gly852Ala)	rs1168374610
NM_000834.5(GRIN2B):c.2684_2685del (p.His895fs)
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001134407.3(GRIN2A):c.1970_1978delinsT (p.Glu657fs)
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu)	rs1588352395
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)

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