ClinVar Miner

List of variants in gene SEC23B reported as pathogenic for congenital dyserythropoietic anemia type 2

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 12
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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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