ClinVar Miner

List of variants studied for Alpha-1-antitrypsin deficiency by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_000295.5(SERPINA1):c.-5+1G>A
NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg) rs199422209
NM_000295.5(SERPINA1):c.82del (p.Gln28fs)

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