ClinVar Miner

List of variants in gene ALDH7A1 reported as benign for Pyridoxine-dependent epilepsy

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.1317+28G>A rs2306617 0.71415
NM_001182.5(ALDH7A1):c.*807C>G rs1807 0.60056
NM_001182.5(ALDH7A1):c.*2499G>A rs7715516 0.52610
NM_001182.5(ALDH7A1):c.*1749G>T rs744722 0.43746
NM_001182.5(ALDH7A1):c.*1748T>A rs744721 0.43127
NM_001182.5(ALDH7A1):c.*68A>G rs2775 0.42285
NM_001182.5(ALDH7A1):c.*726C>T rs1060857 0.37480
NM_001182.4(ALDH7A1):c.-132A>C rs900641 0.24797
NM_001182.4(ALDH7A1):c.-151C>T rs900640 0.11028
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417 0.08598
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055 0.06152
NM_001182.4(ALDH7A1):c.-60G>A rs144272515 0.03685
NM_001182.5(ALDH7A1):c.518-12T>G rs79544459 0.03492
NM_001182.5(ALDH7A1):c.*2254T>A rs76249070 0.02408
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950 0.01833
NM_001182.5(ALDH7A1):c.*1804C>T rs744723 0.01339
NM_001182.5(ALDH7A1):c.*1672A>G rs78029541 0.01247
NM_001182.5(ALDH7A1):c.*1741T>A rs744720 0.01233
NM_001182.5(ALDH7A1):c.*1368A>T rs115645125 0.01210
NM_001182.5(ALDH7A1):c.*2512G>A rs76363408 0.00874
NM_001182.5(ALDH7A1):c.*1446G>A rs114580465 0.00797
NM_001182.5(ALDH7A1):c.*2575T>C rs114287342 0.00792
NM_001182.5(ALDH7A1):c.*2423C>T rs114575585 0.00777
NM_001182.4(ALDH7A1):c.-117G>T rs146562077 0.00663
NM_001182.5(ALDH7A1):c.1094-20C>G rs113775968 0.00586
NM_001182.5(ALDH7A1):c.1009-6G>A rs138056453 0.00500
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001182.4(ALDH7A1):c.-34G>C rs140627539 0.00261
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618 0.00250
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656 0.00144
NM_001182.4(ALDH7A1):c.-29T>C rs556650006 0.00100
NM_001182.5(ALDH7A1):c.243A>G (p.Arg81=) rs146438406 0.00095
NM_001182.5(ALDH7A1):c.774-18G>A rs185333013 0.00043
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=) rs150623275 0.00028
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142 0.00020
NM_001182.5(ALDH7A1):c.193-20C>T rs199762757 0.00018
NM_001182.5(ALDH7A1):c.1287T>C (p.Phe429=) rs375030056 0.00010
NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=) rs142975776 0.00010
NM_001182.5(ALDH7A1):c.774-19C>T rs373058643 0.00010
NM_001182.5(ALDH7A1):c.1068G>A (p.Gln356=) rs376004978 0.00004
NM_001182.5(ALDH7A1):c.*1702del rs5871218
NM_001182.5(ALDH7A1):c.*2997dup rs5871217
NM_001182.5(ALDH7A1):c.*3022T>C rs2035471
NM_001182.5(ALDH7A1):c.*818G>A rs1138005
NM_001182.5(ALDH7A1):c.1009-8del
NM_001182.5(ALDH7A1):c.1009-8dup
NM_001182.5(ALDH7A1):c.1317+20G>A rs17597559
NM_001182.5(ALDH7A1):c.1415+19del
NM_001182.5(ALDH7A1):c.246+7GT[16] rs142510783
NM_001182.5(ALDH7A1):c.313-15G>A rs201720741
NM_001182.5(ALDH7A1):c.872-9dup
NM_001182.5(ALDH7A1):c.914-118dup rs759132307

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