ClinVar Miner

List of variants in gene RETREG1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001034850.3(RETREG1):c.816C>T (p.Asp272=) rs162848 0.71313
NM_001034850.3(RETREG1):c.459-25093T>C rs332811 0.57203
NM_001034850.3(RETREG1):c.1001-17T>C rs16868657 0.02685
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu) rs34432513 0.01144
NM_001034850.3(RETREG1):c.438G>A (p.Leu146=) rs61741225 0.00939
NM_001034850.3(RETREG1):c.379C>T (p.Arg127Cys) rs78314670 0.00642
NM_001034850.3(RETREG1):c.607G>A (p.Val203Met) rs143878016 0.00296
NM_001034850.3(RETREG1):c.380G>A (p.Arg127His) rs200871433 0.00036
NM_001034850.3(RETREG1):c.339A>G (p.Pro113=) rs372182225 0.00006
NM_001034850.3(RETREG1):c.796C>T (p.Arg266Cys) rs368759467 0.00006
NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del) rs758081460
NM_001034850.3(RETREG1):c.775G>T (p.Glu259Ter)

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.