List of variants studied for epilepsy by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)	rs114925667	0.00169
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00024
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)	rs776913277	0.00022
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)	rs587777577	0.00004
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys)	rs769266169	0.00002
NM_001037.5(SCN1B):c.196G>T (p.Glu66Ter)	rs1193962006	0.00001
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)	rs796053366
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly)	rs869312681
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)	rs1555955296
NM_024818.6(UBA5):c.367_368insGA (p.Ala123fs)

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