ClinVar Miner

List of variants in gene ALDH7A1 reported as likely pathogenic for not provided

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105 0.00006
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549 0.00002
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639 0.00001
NM_001182.5(ALDH7A1):c.246+1G>A rs764588746 0.00001
NM_001182.5(ALDH7A1):c.312+1G>A rs199497486 0.00001
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.1410G>A (p.Trp470Ter) rs1581357507
NM_001182.5(ALDH7A1):c.1442T>A (p.Val481Glu) rs144701796
NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr) rs1749930972
NM_001182.5(ALDH7A1):c.1551G>A (p.Met517Ile) rs1064794774
NM_001182.5(ALDH7A1):c.1574A>G (p.Asn525Ser)
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs) rs758414053
NM_001182.5(ALDH7A1):c.328C>G (p.Arg110Gly) rs121912708
NM_001182.5(ALDH7A1):c.545G>A (p.Trp182Ter) rs1554100454
NM_001182.5(ALDH7A1):c.566G>A (p.Gly189Glu) rs1751004098
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.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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