ClinVar Miner

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

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Total variants: 17
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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.1263G>A (p.Ala421=) rs587780850
NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=) rs142975776
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.200C>T (p.Thr67Met) rs543181020
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.615C>T (p.Asn205=) rs369380330
NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=) rs368427726
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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