ClinVar Miner

List of variants reported as likely pathogenic for congenital dyserythropoietic anemia type 2 by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_006363.6(SEC23B):c.2237C>A (p.Thr746Asn) rs1600288964
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225

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