List of variants reported as uncertain significance for Alpha-1-antitrypsin deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)	rs28929470	0.00211
NM_000295.5(SERPINA1):c.250G>A (p.Ala84Thr)	rs111850950	0.00031
NM_000295.5(SERPINA1):c.1061C>T (p.Ser354Phe)	rs201788603	0.00021
NM_000295.5(SERPINA1):c.1075A>G (p.Lys359Glu)	rs200945035	0.00007
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)	rs140814100	0.00004
NM_000295.5(SERPINA1):c.875C>T (p.Thr292Ile)	rs745624643	0.00001
NM_000295.5(SERPINA1):c.1030G>A (p.Gly344Arg)
NM_000295.5(SERPINA1):c.860T>C (p.Leu287Pro)

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