ClinVar Miner

List of variants in gene ALDH7A1 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe) rs186558364
NM_001182.5(ALDH7A1):c.1442T>A (p.Val481Glu) rs144701796
NM_001182.5(ALDH7A1):c.1551G>A (p.Met517Ile) rs1064794774
NM_001182.5(ALDH7A1):c.246+1G>A rs764588746
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs) rs758414053
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105
NM_001182.5(ALDH7A1):c.545G>A (p.Trp182Ter) rs1554100454
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673
NM_001182.5(ALDH7A1):c.5G>A (p.Trp2Ter) rs1554101995
NM_001182.5(ALDH7A1):c.632G>T (p.Cys211Phe) rs1131691976
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351
NM_001182.5(ALDH7A1):c.773+5G>A rs1131691580
NM_001182.5(ALDH7A1):c.826A>C (p.Thr276Pro) rs796052260
NM_001182.5(ALDH7A1):c.979G>A (p.Gly327Ser) rs1554099008

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