ClinVar Miner

List of variants studied for Alpha-1-antitrypsin deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 8
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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_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg) rs199422209
NM_000295.5(SERPINA1):c.628A>T (p.Asn210Tyr)
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) rs1555368557

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