ClinVar Miner

List of variants in gene ALDH7A1 reported as pathogenic

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Total variants: 38
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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.1004G>A (p.Arg335Gln) rs754449549
NM_001182.5(ALDH7A1):c.1093+1G>A rs794727058
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.1281G>T (p.Glu427Asp) rs796052271
NM_001182.5(ALDH7A1):c.1317+2T>C rs1389460034
NM_001182.5(ALDH7A1):c.1468del (p.Ala490fs) rs796052267
NM_001182.5(ALDH7A1):c.1489+5G>A rs368820286
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) rs556400964
NM_001182.5(ALDH7A1):c.1565+1G>T rs1064793830
NM_001182.5(ALDH7A1):c.1566-1G>T rs140845195
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001182.5(ALDH7A1):c.177G>A (p.Trp59Ter) rs1064794242
NM_001182.5(ALDH7A1):c.189_190AG[3] (p.Val65fs) rs796052270
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.34del (p.Ala12fs) rs750693623
NM_001182.5(ALDH7A1):c.394-1G>C rs1064794053
NM_001182.5(ALDH7A1):c.43_46dup (p.Ser16fs) rs767805540
NM_001182.5(ALDH7A1):c.503_506del (p.Ile168fs) rs1064794241
NM_001182.5(ALDH7A1):c.50dup (p.Leu18fs) rs1444879414
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.596C>T (p.Ala199Val) rs121912709
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly) rs555896752
NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter) rs1270423610
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)
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.947dup (p.Ser317fs) rs778003597
NM_001182.5(ALDH7A1):c.986G>A (p.Arg329Lys) rs864622558

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