ClinVar Miner

List of variants reported as pathogenic for Alpha-1-antitrypsin deficiency by Institute of Immunology and Genetics Kaiserslautern

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	rs28929474	0.01282
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)	rs121912714	0.00033

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