ClinVar Miner

List of variants reported as pathogenic for Congenital dyserythropoietic anemia, type II by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter) rs121918224 0.00003
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001

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