ClinVar Miner

List of variants reported as likely pathogenic for Pyridoxine-dependent epilepsy

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Total variants: 7
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HGVS dbSNP
NM_001182.5(ALDH7A1):c.1200+1G>T rs1217642695
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001182.5(ALDH7A1):c.192+3A>T rs773814169
NM_001182.5(ALDH7A1):c.246+1G>A rs764588746
NM_001182.5(ALDH7A1):c.247-1G>C rs1060502949
NM_001182.5(ALDH7A1):c.332G>A (p.Gly111Glu)
NM_001182.5(ALDH7A1):c.914-2A>C

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