ClinVar Miner

List of variants reported for Myeloperoxidase deficiency by Undiagnosed Diseases Network, NIH

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173

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