ClinVar Miner

List of variants reported as pathogenic for Deficiency of ferroxidase by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
NM_000096.4(CP):c.2389del (p.Glu797fs) rs386134149
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.606dup (p.Asp203fs) rs386134143

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