List of variants reported for Pyridoxine-dependent epilepsy by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)	rs184769423	0.00032
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe)	rs201073763	0.00021
NM_000817.3(GAD1):c.1246A>G (p.Ile416Val)	rs749599647	0.00002
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)	rs763116781	0.00001
NM_001134407.3(GRIN2A):c.364G>T (p.Val122Phe)	rs376125239

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