ClinVar Miner

List of variants reported as likely pathogenic for Congenital dyserythropoietic anemia, type II by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)	rs780978419	0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)	rs121918223	0.00001

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