ClinVar Miner

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

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211 0.00001
NM_000295.5(SERPINA1):c.552del (p.Asp183_Tyr184insTer) rs267606950 0.00001
NM_000295.5(SERPINA1):c.646+1G>T rs751235320 0.00001
NC_000014.8:g.(?_94843455)_(94847488_?)del
NC_000014.8:g.(?_94843455)_(94854896_?)del
NC_000014.8:g.(?_94847198)_(94854896_?)del
NM_000295.5(SERPINA1):c.-5+1G>A
NM_000295.5(SERPINA1):c.1052del (p.Leu351fs) rs72555374
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs) rs864622043
NM_000295.5(SERPINA1):c.1113_1114del (p.Ala372fs) rs2139665561
NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs) rs763023697
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000295.5(SERPINA1):c.343C>T (p.Gln115Ter)
NM_000295.5(SERPINA1):c.403C>T (p.Gln135Ter)
NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter)
NM_000295.5(SERPINA1):c.480del (p.Lys160fs)
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter) rs864622051
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter) rs199422210
NM_000295.5(SERPINA1):c.607_608del (p.Asp203fs) rs2139691603
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs) rs921982028
NM_000295.5(SERPINA1):c.787del (p.Val263fs) rs1200349975
NM_000295.5(SERPINA1):c.82del (p.Gln28fs)
NM_000295.5(SERPINA1):c.841G>T (p.Glu281Ter) rs760917668
NM_000295.5(SERPINA1):c.847A>T (p.Lys283Ter)
NM_000295.5(SERPINA1):c.853C>T (p.Gln285Ter)
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) rs1555368557

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