List of variants reported as benign for Alpha-1-antitrypsin deficiency

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000295.5(SERPINA1):c.*968T>C	rs1243166	0.70142
NM_000295.5(SERPINA1):c.*1221A>G	rs11832	0.62751
NM_000295.5(SERPINA1):c.*854T>C	rs1051052	0.47855
NM_000295.5(SERPINA1):c.*481G>A	rs1243165	0.31650
NM_000295.5(SERPINA1):c.*316G>T	rs1243164	0.30828
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)	rs6647	0.29917
NM_000295.5(SERPINA1):c.*224G>A	rs2073333	0.22803
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)	rs1303	0.21786
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His)	rs709932	0.12614
NM_000295.5(SERPINA1):c.*1067G>A	rs11628917	0.09897
NM_000295.5(SERPINA1):c.*1331G>A	rs11568814	0.07789
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=)	rs1049800	0.03703
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=)	rs20546	0.03081
NM_000295.5(SERPINA1):c.-10T>C	rs11558258	0.02846
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=)	rs34112109	0.01536
NM_000295.5(SERPINA1):c.1068C>T (p.Ala356=)	rs9630	0.00897
NM_000295.5(SERPINA1):c.522C>T (p.Thr174=)	rs72552402	0.00522
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)	rs121912712	0.00042
NM_000295.5(SERPINA1):c.1029C>T (p.Ser343=)	rs760494093	0.00003
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys)	rs199422208	0.00002
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn)	rs143370956
NM_000295.5(SERPINA1):c.1014T>C (p.Asn338=)	rs371761828
NM_001127701.1(SERPINA1):c.77A>C (p.Asp26Ala)	rs199422212

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