ClinVar Miner

List of variants reported as affects for Eosinophil peroxidase deficiency

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000502.6(EPX):c.857G>A (p.Arg286His) rs121434566 0.00009
NM_000502.6(EPX):c.1942G>A (p.Asp648Asn) rs141055426 0.00006
NM_000502.4(EPX):c.1541dup rs397518446

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