ClinVar Miner

List of variants studied for Pyridoxine-dependent epilepsy by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024

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