List of variants in gene combination LOC126862987, SEC23B reported as pathogenic for Congenital dyserythropoietic anemia, type II

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)	rs121918226	0.00013
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.576_583delinsA (p.Thr192_Lys193insTer)	rs1555788144
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)

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