ClinVar Miner

List of variants in gene ALDH5A1 reported as benign for Succinate-semialdehyde dehydrogenase deficiency

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.*253C>A rs1054899 0.42316
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_001080.3(ALDH5A1):c.*1840G>A rs2744602 0.29135
NM_001080.3(ALDH5A1):c.726+8G>A rs2817220 0.25132
NM_001080.3(ALDH5A1):c.1402+7G>A rs12211574 0.07141
NM_001080.3(ALDH5A1):c.*2115C>T rs34809203 0.07077
NM_001080.3(ALDH5A1):c.*2766G>A rs13197086 0.07032
NM_001080.3(ALDH5A1):c.*1268C>A rs12190214 0.06392
NM_001080.3(ALDH5A1):c.610-5C>T rs76752785 0.04857
NM_001080.3(ALDH5A1):c.*2059C>T rs13196003 0.04759
NM_001080.3(ALDH5A1):c.*385G>C rs13218365 0.04756
NM_001080.3(ALDH5A1):c.*2581T>C rs41271789 0.04178
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_001080.3(ALDH5A1):c.*1407A>G rs73386199 0.02304
NM_001080.3(ALDH5A1):c.*302G>A rs74807590 0.02295
NM_001080.3(ALDH5A1):c.*765G>A rs11558625 0.02287
NM_001080.3(ALDH5A1):c.*2985C>T rs114960321 0.02020
NM_001080.3(ALDH5A1):c.727-15T>C rs13362724 0.01562
NM_001080.3(ALDH5A1):c.726+3G>A rs114082057 0.01442
NM_001080.3(ALDH5A1):c.*2597A>G rs150044083 0.00885
NM_001080.3(ALDH5A1):c.*814G>T rs9461036 0.00853
NM_001080.3(ALDH5A1):c.*1286A>G rs9467217 0.00833
NM_001080.3(ALDH5A1):c.1389T>C (p.Asp463=) rs58747567 0.00705
NM_001080.3(ALDH5A1):c.*1473G>A rs75854500 0.00638
NM_001080.3(ALDH5A1):c.*2219T>C rs150916849 0.00589
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=) rs143486700 0.00217
NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr) rs149482918 0.00146
NM_001080.3(ALDH5A1):c.1479C>T (p.Asn493=) rs200661931 0.00010
NM_001080.3(ALDH5A1):c.870+14G>A rs375583348 0.00004
NM_001080.3(ALDH5A1):c.675C>T (p.Val225=) rs776598651 0.00001
NM_001080.3(ALDH5A1):c.*1294C>T rs114422378
NM_001080.3(ALDH5A1):c.*1392C>A rs116311769
NM_001080.3(ALDH5A1):c.1014+60TG[6] rs199737070
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser) rs62621664

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