ClinVar Miner

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

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Total variants: 7
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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.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val) rs398124225 0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_006363.6(SEC23B):c.113del (p.Leu38fs)
NM_006363.6(SEC23B):c.2237C>A (p.Thr746Asn) rs1600288964
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly) rs761034212

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