ClinVar Miner

List of variants studied for Alpha-1-antitrypsin deficiency by Baylor Genetics

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Total variants: 36
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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_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_000295.5(SERPINA1):c.646+2T>C rs112661131 0.00005
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu) rs746197812 0.00002
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211 0.00001
NM_000295.5(SERPINA1):c.646+1G>T rs751235320 0.00001
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898 0.00001
NM_000295.5(SERPINA1):c.875C>T (p.Thr292Ile) rs745624643 0.00001
NM_000295.5(SERPINA1):c.-5+1G>A
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs) rs864622043
NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs) rs763023697
NM_000295.5(SERPINA1):c.1133_1134insTA (p.Glu378fs)
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1179del (p.Phe394fs)
NM_000295.5(SERPINA1):c.155C>T (p.Pro52Leu)
NM_000295.5(SERPINA1):c.216del (p.Asn73fs)
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000295.5(SERPINA1):c.290dup (p.His97fs)
NM_000295.5(SERPINA1):c.351_352del (p.His117fs)
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.557del (p.Glu186fs)
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs) rs921982028
NM_000295.5(SERPINA1):c.647-2A>C
NM_000295.5(SERPINA1):c.647del rs1555368758
NM_000295.5(SERPINA1):c.754_764dup (p.His255fs)
NM_000295.5(SERPINA1):c.847A>T (p.Lys283Ter)
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) rs1555368557

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