ClinVar Miner

List of variants studied for Juvenile polyposis syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000010.10:g.(88659884_88671996)_(88679227_88681276)del
NC_000018.9:g.(48556994_48573289)_48573471dup
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val) rs1060500741
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) rs121912581
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter) rs876660079
NM_005359.6(SMAD4):c.604_605insAGATCGGAAGAGCACACGTCGCTCTTCCGATCTTTAG (p.Ala202fs)
NM_005359.6(SMAD4):c.894del (p.Gly299fs) rs2144429392

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.