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

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)	rs121918222	0.00017
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.490del (p.Val164fs)
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)	rs761034212
NM_006363.6(SEC23B):c.835-2A>G
NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr)

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