List of variants reported as pathogenic for Alpha-1-antitrypsin deficiency by HerediLab, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr)	rs1488213352	0.00001
NC_000014.9:g.[94380925T>A;94382636T>C]
NC_000014.9:g.[94380925T>A;94383048G>T]
NM_000295.4(SERPINA1):c.[1096G>A;35T>C]
NM_000295.4(SERPINA1):c.[1158dupC;863A>T]
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)	rs864622043
NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr)	rs61761869
NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro)	rs113817720
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)	rs864622051
NM_000295.5(SERPINA1):c.585_586delinsA (p.Asp195fs)	rs1566756379
NM_000295.5(SERPINA1):c.647del	rs1555368758
NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro)	rs1566753480
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs)	rs1555368557
NM_001127701.1(SERPINA1):c.[187C>T;739C>T]

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