ClinVar Miner

List of variants reported as likely benign for Pyridoxine-dependent epilepsy by Illumina Laboratory Services, Illumina

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.*2387A>G rs116566135 0.00607
NM_001182.5(ALDH7A1):c.*325A>G rs55923017 0.00504
NM_001182.5(ALDH7A1):c.1009-6G>A rs138056453 0.00500
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001182.5(ALDH7A1):c.*690T>C rs139905907 0.00352
NM_001182.5(ALDH7A1):c.*1209G>A rs555172968 0.00171
NM_001182.4(ALDH7A1):c.-29T>C rs556650006 0.00100
NM_001182.5(ALDH7A1):c.*2603G>A rs74415886 0.00025

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