ClinVar Miner

List of variants studied for Congenital dyserythropoietic anemia, type II by Mendelics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440 0.00050
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) rs775380378 0.00003

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