List of variants reported as likely pathogenic for generalized epilepsy by Mendelics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000814.6(GABRB3):c.146A>G (p.Asp49Gly)	rs2140199587
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn)	rs796052488
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg)	rs1581220163
NM_001165963.4(SCN1A):c.2589+3A>G	rs794726775
NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys)	rs121918623
NM_001165963.4(SCN1A):c.2948T>G (p.Val983Gly)	rs121918756
NM_001165963.4(SCN1A):c.323T>A (p.Leu108Gln)	rs794726793
NM_052874.5(STX1B):c.686_688del (p.Ile229_Asp230delinsAsn)	rs1596714579

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