ClinVar Miner

List of variants in gene ALDH7A1 reported as pathogenic by GeneDx

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Total variants: 20
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HGVS dbSNP
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549
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.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.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.328C>T (p.Arg110Ter) rs121912708
NM_001182.5(ALDH7A1):c.394-1G>C rs1064794053
NM_001182.5(ALDH7A1):c.503_506del (p.Ile168fs) rs1064794241
NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser) rs372660425
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

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