ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP
NM_001182.4(ALDH7A1):c.-117G>T rs146562077
NM_001182.4(ALDH7A1):c.-60G>A rs144272515
NM_001182.5(ALDH7A1):c.*1112T>G rs80345302
NM_001182.5(ALDH7A1):c.*1368A>T rs115645125
NM_001182.5(ALDH7A1):c.*1672A>G rs78029541
NM_001182.5(ALDH7A1):c.*1741T>A rs744720
NM_001182.5(ALDH7A1):c.*1804C>T rs744723
NM_001182.5(ALDH7A1):c.*2254T>A rs76249070
NM_001182.5(ALDH7A1):c.*548C>T rs1060856
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055
NM_001182.5(ALDH7A1):c.518-12T>G rs79544459
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950

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