ClinVar Miner

List of variants reported as pathogenic for Alpha-1-antitrypsin deficiency by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011

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