ClinVar Miner

List of variants reported as benign for Pyridoxine-dependent epilepsy

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Total variants: 24
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HGVS dbSNP
NM_001182.4(ALDH7A1):c.-132A>C rs900641
NM_001182.4(ALDH7A1):c.-151C>T rs900640
NM_001182.4(ALDH7A1):c.-60G>A rs144272515
NM_001182.5(ALDH7A1):c.*1108G>A rs1483780
NM_001182.5(ALDH7A1):c.*1702del rs5871218
NM_001182.5(ALDH7A1):c.*1748T>A rs744721
NM_001182.5(ALDH7A1):c.*1749G>T rs744722
NM_001182.5(ALDH7A1):c.*2499G>A rs7715516
NM_001182.5(ALDH7A1):c.*2997dup rs5871217
NM_001182.5(ALDH7A1):c.*3022T>C rs2035471
NM_001182.5(ALDH7A1):c.*68A>G rs2775
NM_001182.5(ALDH7A1):c.*726C>T rs1060857
NM_001182.5(ALDH7A1):c.*807C>G rs1807
NM_001182.5(ALDH7A1):c.*818G>A rs1138005
NM_001182.5(ALDH7A1):c.1009-6G>A rs138056453
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.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.518-12T>G rs79544459
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950

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