ClinVar Miner

List of variants studied for Alpha-1-antitrypsin deficiency by HerediLab, Inc.

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000295.5(SERPINA1):c.538C>G (p.Gln180Glu) rs864622051 0.00003
NM_000295.5(SERPINA1):c.894G>T (p.Lys298Asn) rs957169128 0.00003
NM_000295.5(SERPINA1):c.1000A>G (p.Lys334Glu) rs1444508096 0.00001
NM_000295.5(SERPINA1):c.1027T>G (p.Ser343Ala) rs1400497428 0.00001
NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val) rs864622046 0.00001
NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr) rs1488213352 0.00001
NM_000295.5(SERPINA1):c.236T>A (p.Val79Glu) rs864622047 0.00001
NM_000295.5(SERPINA1):c.707A>G (p.Gln236Arg) rs746531546 0.00001
NM_000295.5(SERPINA1):c.727C>T (p.Pro243Ser) rs1316729320 0.00001
NM_000295.5(SERPINA1):c.878A>G (p.His293Arg) rs1281598461 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.1014T>A (p.Asn338Lys) rs371761828
NM_000295.5(SERPINA1):c.102G>T (p.Lys34Asn) rs864622049
NM_000295.5(SERPINA1):c.1064A>G (p.Lys355Arg) rs864622055
NM_000295.5(SERPINA1):c.1093G>T (p.Asp365Tyr) rs143370956
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs) rs864622043
NM_000295.5(SERPINA1):c.1121C>A (p.Ala374Asp) rs1566748077
NM_000295.5(SERPINA1):c.1132G>A (p.Glu378Lys) rs1566747984
NM_000295.5(SERPINA1):c.1136C>A (p.Ala379Asp) rs1291036417
NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr) rs61761869
NM_000295.5(SERPINA1):c.1208C>T (p.Thr403Ile) rs778747339
NM_000295.5(SERPINA1):c.180C>G (p.Ser60Arg) rs864622045
NM_000295.5(SERPINA1):c.188G>T (p.Arg63Leu) rs764726147
NM_000295.5(SERPINA1):c.199C>A (p.His67Asn) rs864622050
NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro) rs113817720
NM_000295.5(SERPINA1):c.297A>C (p.Glu99Asp) rs1566757757
NM_000295.5(SERPINA1):c.356G>T (p.Gly119Val) rs749295615
NM_000295.5(SERPINA1):c.469G>A (p.Asp157Asn) rs1595612771
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.631T>C (p.Tyr211His) rs864622052
NM_000295.5(SERPINA1):c.647del rs1555368758
NM_000295.5(SERPINA1):c.654G>T (p.Trp218Cys) rs1445192595
NM_000295.5(SERPINA1):c.664T>C (p.Phe222Leu) rs1555368744
NM_000295.5(SERPINA1):c.735G>A (p.Met245Ile) rs864622053
NM_000295.5(SERPINA1):c.737A>C (p.Lys246Thr) rs864622054
NM_000295.5(SERPINA1):c.761A>G (p.Gln254Arg) rs1566753789
NM_000295.5(SERPINA1):c.779C>T (p.Ser260Phe) rs1595607823
NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro) rs1566753480
NM_000295.5(SERPINA1):c.848A>T (p.Lys283Ile) rs864622044
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) rs1555368557
NM_000295.5(SERPINA1):c.879C>G (p.His293Gln) rs141095970
NM_000295.5(SERPINA1):c.89A>T (p.Asp30Val) rs864622048
NM_000295.5(SERPINA1):c.907G>C (p.Glu303Gln) rs1802963
NM_000295.5(SERPINA1):c.958A>C (p.Thr320Pro) rs746155701
NM_001127701.1(SERPINA1):c.[187C>T;739C>T]

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