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

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Total variants: 15

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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.1489C>T (p.Arg497Cys)	rs727504145	0.00004
NM_006363.6(SEC23B):c.53G>A (p.Arg18His)	rs905074313	0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)	rs121918225	0.00004
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)	rs775380378	0.00003
NM_006363.6(SEC23B):c.689+1G>A	rs398124226	0.00003
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter)	rs121918224	0.00003
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)	rs199939108	0.00002
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)	rs121918223	0.00001
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter)	rs1403456625
NM_006363.6(SEC23B):c.279+2T>C
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer)	rs1555788144
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)

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