ClinVar Miner

List of variants studied for Pyridoxine-dependent epilepsy by Elsea Laboratory, Baylor College of Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00024
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)	rs201948406	0.00004

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