List of variants in gene SEC23B studied for Cowden syndrome 7

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_006363.6(SEC23B):c.1233+9A>G	rs6081189	0.91788
NM_006363.6(SEC23B):c.834+40T>C	rs911115	0.91369
NM_006363.6(SEC23B):c.1665+48C>T	rs2295557	0.66701
NM_006363.6(SEC23B):c.1744-20T>A	rs3736775	0.33572
NM_006363.6(SEC23B):c.834+41G>A	rs1555353	0.30830
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln)	rs2273526	0.12707
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)	rs6045440	0.00050
NM_006363.6(SEC23B):c.222-78C>T	rs150393520	0.00026
NM_006363.6(SEC23B):c.286C>G (p.Pro96Ala)	rs756668484	0.00002
NM_006363.6(SEC23B):c.1781T>G (p.Val594Gly)	rs752366963	0.00001
NM_006363.6(SEC23B):c.1602C>G (p.Phe534Leu)
NM_006363.6(SEC23B):c.2035G>A (p.Glu679Lys)
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)	rs143417821

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