List of variants reported as benign for juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.*5131A>G	rs12456284	0.19420
NM_005359.6(SMAD4):c.*5535A>G	rs75712226	0.07867
NM_005359.6(SMAD4):c.*6423G>C	rs2282544	0.04514
NM_005359.6(SMAD4):c.*685A>C	rs16952798	0.03369
NM_005359.6(SMAD4):c.*1179T>C	rs10470	0.02819
NM_005359.6(SMAD4):c.*5170C>T	rs117142232	0.01554
NM_005359.6(SMAD4):c.*5083G>A	rs145596898	0.01488
NM_005359.6(SMAD4):c.*2122A>G	rs149424787	0.01125
NM_005359.6(SMAD4):c.*6513C>T	rs76020793	0.00838
NM_005359.6(SMAD4):c.*11C>T	rs11663402	0.00538
NM_005359.6(SMAD4):c.*3662C>T	rs114852346	0.00503
NM_005359.6(SMAD4):c.*1820T>G	rs141309481	0.00426
NM_005359.6(SMAD4):c.*5259A>T	rs139414609	0.00320
NM_005359.6(SMAD4):c.*2796G>T	rs4939651	0.00278
NM_005359.6(SMAD4):c.*5419T>C	rs146551171	0.00277
NM_005359.6(SMAD4):c.455-6A>G	rs181178864	0.00269
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)	rs145988618	0.00268
NM_005359.6(SMAD4):c.1140-10T>C	rs186332162	0.00221
NM_005359.6(SMAD4):c.*2989A>G	rs139526377	0.00208
NM_005359.6(SMAD4):c.*2361A>G	rs143842829	0.00061
NM_005359.6(SMAD4):c.*5627G>A	rs185010226	0.00055
NM_005359.6(SMAD4):c.*412A>G	rs28403611	0.00036
NM_005359.6(SMAD4):c.*1659C>A	rs574896468	0.00026
NM_005359.6(SMAD4):c.*2353C>T	rs550660083	0.00011
NM_005359.6(SMAD4):c.*5080A>G	rs532965680	0.00002
NM_005359.6(SMAD4):c.*1866A>G	rs4940037
NM_005359.6(SMAD4):c.*5994A>C	rs3819122

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.