ClinVar Miner

List of variants studied for Renal tubular dysgenesis of genetic origin by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001382817.3(AGT):c.-30-3273G>A rs5051 0.58201
NM_000789.4(ACE):c.2747C>T (p.Thr916Met) rs3730043 0.00420
NM_000685.5(AGTR1):c.730G>T (p.Ala244Ser) rs12721225 0.00235
NC_000001.11:g.230704288G>T rs1805090 0.00134
NM_000789.4(ACE):c.1979C>G (p.Ser660Cys) rs147429960 0.00098
NM_000789.4(ACE):c.1142C>T (p.Thr381Met) rs150466411 0.00075
NM_000789.4(ACE):c.863A>G (p.Gln288Arg) rs199591851 0.00064
NM_000789.4(ACE):c.1444C>T (p.Arg482Cys) rs201540553 0.00028
NM_000789.4(ACE):c.1459C>T (p.Arg487Cys) rs149784122 0.00019
NM_001384479.1(AGT):c.862C>T rs61762530 0.00013
NM_001384479.1(AGT):c.-24C>T rs764314612 0.00009
NM_001384479.1(AGT):c.382A>G (p.Thr128Ala) rs138340265 0.00007
NM_000685.5(AGTR1):c.113T>C (p.Ile38Thr) rs751575775 0.00001
NM_001384479.1(AGT):c.829+1G>T rs747815674 0.00001
NM_000789.4(ACE):c.1852G>A (p.Gly618Ser)
NM_000789.4(ACE):c.2570G>A (p.Arg857His) rs146089353
NM_000789.4(ACE):c.3503+1G>C rs779188587
NM_000789.4(ACE):c.3533C>T (p.Pro1178Leu)
NM_001384479.1(AGT):c.1096C>T (p.Arg366Trp)
NM_001384479.1(AGT):c.1180_1182dup (p.Ala394dup) rs562507867
NM_001384479.1(AGT):c.1212del (p.Lys404fs)
NM_001384479.1(AGT):c.1361C>T (p.Ala454Val)

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.