List of variants studied for epilepsy by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

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		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.1295T>A (p.Ile432Lys)	rs1841768122
NM_001040142.2(SCN2A):c.4989del (p.Ile1663fs)	rs1702009872
NM_001040142.2(SCN2A):c.785T>C (p.Phe262Ser)	rs1697364805
NM_001127644.2(GABRA1):c.763A>T (p.Ile255Phe)	rs1755061747
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)	rs1689278062
NM_005249.5(FOXG1):c.1011_1015dup (p.Met339fs)	rs1881815891
NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter)	rs1573337552
NM_172107.4(KCNQ2):c.782T>G (p.Phe261Cys)	rs796052631

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