List of variants reported as pathogenic for Alpha-1-antitrypsin deficiency by Mendelics

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Total variants: 4

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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.839A>T (p.Asp280Val)	rs121912714	0.00033
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)	rs61761869	0.00031

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