List of variants reported as pathogenic for epilepsy by Fondazione Telethon, Telethon Institute of Genetics and Medicine

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000834.5(GRIN2B):c.1621A>G (p.Ser541Gly)
NM_000834.5(GRIN2B):c.1664G>A (p.Ser555Asn)	rs1949369220
NM_001134407.3(GRIN2A):c.1661G>C (p.Ser554Thr)
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala)	rs1555492758
NM_007327.4(GRIN1):c.1921A>T (p.Met641Leu)	rs2131299136

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