List of variants reported as likely benign for Alpha-1-antitrypsin deficiency by HerediLab, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val)	rs864622046	0.00003
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.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
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.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.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.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.631T>C (p.Tyr211His)	rs864622052
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.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

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