ClinVar Miner

List of variants studied for Deficiency of ferroxidase by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.1632A>T (p.Glu544Asp) rs701753 0.87203
NM_000096.4(CP):c.2286-15del rs143522213 0.30166
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896

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