List of variants in gene LOC126862987, SEC23B studied for Congenital dyserythropoietic anemia, type II

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)	rs36023150	0.00602
NM_006363.6(SEC23B):c.689+10C>T	rs200020725	0.00220
NM_006363.6(SEC23B):c.519G>A (p.Val173=)	rs138314893	0.00040
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)	rs201160833	0.00028
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)	rs121918226	0.00013
NM_006363.6(SEC23B):c.389T>C (p.Ile130Thr)	rs773290230	0.00008
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.436G>A (p.Ala146Thr)	rs2060116077
NM_006363.6(SEC23B):c.490del (p.Val164fs)
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer)	rs1555788144
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)

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