ClinVar Miner

List of variants studied for alpha 1-antitrypsin deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
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_000295.5(SERPINA1):c.-7A>G rs559054925 0.00041
NM_000295.5(SERPINA1):c.250G>A (p.Ala84Thr) rs111850950 0.00031
NM_000295.5(SERPINA1):c.1061C>T (p.Ser354Phe) rs201788603 0.00021
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr) rs113817720 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_000295.5(SERPINA1):c.1075A>G (p.Lys359Glu) rs200945035 0.00007
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213 0.00006
NM_000295.5(SERPINA1):c.113C>T (p.Ser38Phe) rs745463238 0.00004
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100 0.00004
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_000295.5(SERPINA1):c.1158del (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter) rs199422210

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