ClinVar Miner

List of variants reported as likely pathogenic for Alpha-1-antitrypsin deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)	rs28931570	0.00137
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	rs28931569	0.00004
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)	rs764325655

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