ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NC_000005.9:g.(?_125911092)_(125911176_?)del
NM_001182.5(ALDH7A1):c.1003C>T (p.Arg335Ter)
NM_001182.5(ALDH7A1):c.1193G>T (p.Gly398Val) rs864622557
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) rs556400964
NM_001182.5(ALDH7A1):c.1566-1G>T rs140845195
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623
NM_001182.5(ALDH7A1):c.43_46dup (p.Ser16fs) rs767805540
NM_001182.5(ALDH7A1):c.518-1G>C
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu) rs764417585
NM_001182.5(ALDH7A1):c.532_542del (p.Leu178fs) rs765119568
NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser) rs372660425
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673
NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter) rs1270423610
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)
NM_001182.5(ALDH7A1):c.986G>A (p.Arg329Lys) rs864622558

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