ClinVar Miner

List of variants reported as benign for Pyridoxine-dependent epilepsy by Invitae

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Total variants: 8
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HGVS dbSNP
NM_001182.5(ALDH7A1):c.1009-6G>A rs138056453
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.5(ALDH7A1):c.243A>G (p.Arg81=) rs146438406
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950

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