List of variants reported as uncertain significance for Alpha-1-antitrypsin deficiency by Counsyl

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000295.5(SERPINA1):c.1075A>G (p.Lys359Glu)	rs200945035	0.00007
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)	rs140814100	0.00004
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys)	rs199422208	0.00002
NM_000295.5(SERPINA1):c.115C>A (p.His39Asn)	rs138070585	0.00001
NM_000295.5(SERPINA1):c.880G>A (p.Asp294Asn)	rs772436715	0.00001
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg)	rs112030253
NM_000295.5(SERPINA1):c.848A>T (p.Lys283Ile)	rs864622044

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