ClinVar Miner

List of variants studied for alpha 1-antitrypsin deficiency by Myriad Genetics, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00032
NM_000295.5(SERPINA1):c.673A>T (p.Lys225Ter) rs11558264

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