ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)	rs763023697
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)	rs775982338
NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)	rs55819880

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