ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP
NC_000005.10:g.(?_126575400)_(126575484_?)del
NC_000005.10:g.(?_126582831)_(126584032_?)del
NM_001182.5(ALDH7A1):c.1003C>T (p.Arg335Ter) rs1015686016
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549
NM_001182.5(ALDH7A1):c.1008+1G>A
NM_001182.5(ALDH7A1):c.1193G>T (p.Gly398Val) rs864622557
NM_001182.5(ALDH7A1):c.1224T>G (p.Tyr408Ter) rs121912710
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs)
NM_001182.5(ALDH7A1):c.1348G>T (p.Glu450Ter)
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs) rs1296037862
NM_001182.5(ALDH7A1):c.1489+5G>A rs368820286
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) rs556400964
NM_001182.5(ALDH7A1):c.1566-1G>T rs140845195
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001182.5(ALDH7A1):c.312+1G>A rs199497486
NM_001182.5(ALDH7A1):c.312+2T>A rs1561672504
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118
NM_001182.5(ALDH7A1):c.503_506del (p.Ile168fs) rs1064794241
NM_001182.5(ALDH7A1):c.518-1G>C rs779494572
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.596C>T (p.Ala199Val) rs121912709
NM_001182.5(ALDH7A1):c.651-3_651-1del
NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter) rs1270423610
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406
NM_001182.5(ALDH7A1):c.901_902del (p.Asn301fs) rs1064794240
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile) rs121912711
NM_001182.5(ALDH7A1):c.91_92del (p.Thr31fs)
NM_001182.5(ALDH7A1):c.986G>A (p.Arg329Lys) rs864622558

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