ClinVar Miner

List of variants reported as pathogenic for Alpha-1-antitrypsin deficiency by Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) rs1802959 0.00001
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
NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser) rs11558261 0.00001
NM_000295.5(SERPINA1):c.1064_1066-3del (p.Lys355_Ala356=) rs1555367896
NM_000295.5(SERPINA1):c.1072_1073del (p.Val357_His358insTer) rs1555367892
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1del (p.Met1fs) rs1555369299
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000295.5(SERPINA1):c.227T>C (p.Phe76Ser) rs1555369172
NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg) rs121912713
NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) rs55819880
NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu) rs28931568
NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn) rs28931572

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