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

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
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_001182.5(ALDH7A1):c.518-12T>G	rs79544459	0.03492
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=)	rs57902950	0.01833
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_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala)	rs2306618	0.00250
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val)	rs117295656	0.00144
NM_001182.5(ALDH7A1):c.243A>G (p.Arg81=)	rs146438406	0.00095
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=)	rs201566142	0.00020
NM_001182.5(ALDH7A1):c.1068G>A (p.Gln356=)	rs376004978	0.00004
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.313-15G>A	rs201720741
NM_001182.5(ALDH7A1):c.872-9dup

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