ClinVar Miner

List of variants reported as uncertain significance 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
NM_000817.3(GAD1):c.1246A>G (p.Ile416Val)
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_001134407.3(GRIN2A):c.364G>T (p.Val122Phe)
NM_007171.3(POMT1):c.855G>C (p.Leu285Phe) rs201073763
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)

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