List of variants reported as likely pathogenic for Infantile spasms

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His)	rs1553579488
NM_001040142.2(SCN2A):c.2815C>G (p.Leu939Val)	rs2468008251
NM_001040142.2(SCN2A):c.3945A>T (p.Arg1315Ser)	rs2468096296
NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr)	rs1553567561
NM_001164664.2(MAST4):c.2693T>C (p.Ile898Thr)	rs2532194146
NM_001164664.2(MAST4):c.7655C>G (p.Ser2552Trp)	rs564196683

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