ClinVar Miner

List of variants in gene ALDH5A1 studied for not specified

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_001080.3(ALDH5A1):c.1389T>C (p.Asp463=) rs58747567 0.00705
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.355-9C>G rs375453445 0.00045
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile) rs151294087 0.00032
NM_001080.3(ALDH5A1):c.1344-6T>C rs368212282 0.00020
NM_001080.3(ALDH5A1):c.684G>A (p.Lys228=) rs200484487 0.00019
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile) rs139633130 0.00015
NM_001080.3(ALDH5A1):c.1280A>G (p.Asn427Ser) rs149793005 0.00014
NM_001080.3(ALDH5A1):c.*7T>C rs199767765 0.00013
NM_001080.3(ALDH5A1):c.1479C>T (p.Asn493=) rs200661931 0.00010
NM_001080.3(ALDH5A1):c.355-4G>C rs775932045 0.00003
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) rs906284769 0.00001
NM_001080.3(ALDH5A1):c.480C>A (p.Ser160=) rs143486700
NM_001080.3(ALDH5A1):c.697A>G (p.Thr233Ala) rs2127382965
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser) rs62621664
NM_001080.3(ALDH5A1):c.726+10T>G rs775722771

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