ClinVar Miner

List of variants studied for Deficiency of ferroxidase by Dept of Medicine and Surgery, University of Milano-Bicocca

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000096.4(CP):c.1012T>A (p.Cys338Ser)	rs769313989
NM_000096.4(CP):c.1208+1G>A	rs1553762556
NM_000096.4(CP):c.1865-291_2077+352del	rs1553759338
NM_000096.4(CP):c.2078-74_2241del	rs1553759167
NM_000096.4(CP):c.650T>C (p.Phe217Ser)	rs386134125

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