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

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Total variants: 15

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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.187C>T (p.Arg63Cys)	rs28931570	0.00137
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)	rs121912714	0.00033
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)	rs61761869	0.00031
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	rs199422209	0.00011
NM_000295.5(SERPINA1):c.646+2T>C	rs112661131	0.00005
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)	rs199422211	0.00001
NM_000295.5(SERPINA1):c.-5+1G>A
NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)	rs763023697
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)	rs764325655
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)	rs764325655
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)	rs775982338
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)	rs864622051
NM_000295.5(SERPINA1):c.847A>T (p.Lys283Ter)

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