ClinVar Miner

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

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Total variants: 31
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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.*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.1016A>G (p.His339Arg) rs199767457
NM_001182.5(ALDH7A1):c.1201-8T>C rs558579795
NM_001182.5(ALDH7A1):c.1224T>C (p.Tyr408=) rs121912710
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850
NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=) rs142975776
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417
NM_001182.5(ALDH7A1):c.1374C>T (p.Ser458=) rs978958073
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His) rs147940248
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met) rs543181020
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055
NM_001182.5(ALDH7A1):c.417C>T (p.Ile139=) rs772201739
NM_001182.5(ALDH7A1):c.423G>C (p.Val141=) rs199653162
NM_001182.5(ALDH7A1):c.518-12T>G rs79544459
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) rs369380330
NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=) rs368427726
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950
NM_001182.5(ALDH7A1):c.852G>C (p.Leu284=) rs747107627
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=) rs150623275
NM_001182.5(ALDH7A1):c.871+8T>G rs750152298
NM_001182.5(ALDH7A1):c.882G>C (p.Leu294=) rs751053781
NM_001182.5(ALDH7A1):c.960C>T (p.Phe320=) rs114516357

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