ClinVar Miner

List of variants studied for Congenital dyserythropoietic anemia, type II by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_006363.6(SEC23B):c.2237C>A (p.Thr746Asn) rs1600288964

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