ClinVar Miner

List of variants in gene ALDH7A1 reported by Ambry Genetics

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Total variants: 26
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HGVS dbSNP
NM_001182.4(ALDH7A1):c.1493_1495delGAG (p.Gly498del) rs796052268
NM_001182.5(ALDH7A1):c.1073G>T (p.Arg358Leu)
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417
NM_001182.5(ALDH7A1):c.1489+5G>A rs368820286
NM_001182.5(ALDH7A1):c.154G>C (p.Glu52Gln) rs765562932
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.5(ALDH7A1):c.243A>G (p.Arg81=) rs146438406
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656
NM_001182.5(ALDH7A1):c.394-5T>C rs1299570489
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142
NM_001182.5(ALDH7A1):c.452T>C (p.Val151Ala) rs1561667040
NM_001182.5(ALDH7A1):c.50dup (p.Leu18fs) rs1444879414
NM_001182.5(ALDH7A1):c.56C>T (p.Ser19Phe) rs566243475
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) rs369380330
NM_001182.5(ALDH7A1):c.623C>T (p.Ala208Val)
NM_001182.5(ALDH7A1):c.651-5T>C
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950
NM_001182.5(ALDH7A1):c.726G>A (p.Lys242=) rs1420938162
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs) rs778003597
NM_001182.5(ALDH7A1):c.995C>G (p.Thr332Ser)

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