ClinVar Miner

List of variants studied for Alpha-2-plasmin inhibitor deficiency

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000934.4(SERPINF2):c.472G>A (p.Gly158Ser) rs1248535684 0.00002
NM_000934.4(SERPINF2):c.1231G>A (p.Val411Met) rs121965062
NM_000934.4(SERPINF2):c.1437dup (p.Met480fs) rs2543443583
NM_000934.4(SERPINF2):c.525AGA[1] (p.Glu176del) rs121965061

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