ClinVar Miner

List of variants studied for Alpha-1-antitrypsin deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4
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HGVS dbSNP gnomAD frequency
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_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004

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