List of variants in gene SEC23B reported as benign for Cowden syndrome 7

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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: 31

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HGVS	dbSNP	gnomAD frequency
NM_006363.6(SEC23B):c.834+40T>C	rs911115	0.91795
NM_006363.6(SEC23B):c.1233+9A>G	rs6081189	0.91788
NM_006363.6(SEC23B):c.1665+48C>T	rs2295557	0.66898
NM_006363.6(SEC23B):c.1744-20T>A	rs3736775	0.34120
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.1298C>T (p.Pro433Leu)	rs17807673	0.10334
NM_006363.6(SEC23B):c.1405-7C>T	rs2273525	0.09089
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)	rs41309927	0.04091
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=)	rs7262532	0.03022
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)	rs146917730	0.01006
NM_006363.6(SEC23B):c.834+116A>G	rs113825530	0.00772
NM_006363.6(SEC23B):c.1743+168A>G	rs111951711	0.00771
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His)	rs141588462	0.00677
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=)	rs147036760	0.00639
NM_006363.6(SEC23B):c.816T>C (p.Ile272=)	rs115177758	0.00629
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln)	rs111572459	0.00474
NM_006363.6(SEC23B):c.1404+20_1404+21del	rs369173250	0.00378
NM_006363.6(SEC23B):c.1666-148G>C	rs116352690	0.00329
NM_006363.6(SEC23B):c.835-7A>G	rs184484121	0.00317
NM_006363.6(SEC23B):c.221+76A>G	rs183784857	0.00313
NM_006363.6(SEC23B):c.993+19G>A	rs144225458	0.00281
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)	rs138198461	0.00271
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=)	rs77945587	0.00228
NM_006363.6(SEC23B):c.993+10C>G	rs201948587	0.00166
NC_000020.11:g.18507416A>G	rs559854357	0.00139
NM_006363.6(SEC23B):c.66C>T (p.Asn22=)	rs144542988	0.00095
NM_006363.6(SEC23B):c.1993-16G>A	rs375390042	0.00013
NM_006363.6(SEC23B):c.1744-17G>A	rs533554185	0.00011
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)	rs534770840	0.00001
NM_006363.6(SEC23B):c.1110-13dup	rs778287875

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