List of variants reported as pathogenic for congenital dyserythropoietic anemia type 2

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Total variants: 12

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HGVS	dbSNP
NC_000020.11:g.(?_18512225)_(18515736_?)del
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys)	rs727504145
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)	rs1568617456
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)	rs121918223
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)	rs121918221
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)	rs121918222
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer)	rs1555788144
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)	rs121918226
NM_006363.6(SEC23B):c.689+1G>A	rs398124226
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter)	rs121918224
NM_006363.6(SEC23B):c.816del (p.Ile272fs)	rs1568606490
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)	rs121918225

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