ClinVar Miner

List of variants studied for Nephrotic syndrome, type 13

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015135.3(NUP205):c.4066G>C (p.Glu1356Gln) rs7810767 0.98537
NM_015135.3(NUP205):c.4793+11G>A rs7810260 0.45573
NM_015135.3(NUP205):c.649-11T>C rs10252250 0.39418
NM_015135.3(NUP205):c.5559+4C>T rs10260691 0.31332
NM_015135.3(NUP205):c.4425C>T (p.Ala1475=) rs146766044 0.00265
NM_015135.3(NUP205):c.2961C>G (p.Ile987Met) rs61756073 0.00021
NM_015135.3(NUP205):c.5984T>C (p.Phe1995Ser) rs869312984 0.00001
NM_015135.3(NUP205):c.1851A>C (p.Ala617=) rs7800214
NM_015135.3(NUP205):c.2068G>A (p.Glu690Lys)
NM_015135.3(NUP205):c.2453T>C (p.Leu818Pro)
NM_015135.3(NUP205):c.3329T>C (p.Leu1110Pro) rs1584675898
NM_015135.3(NUP205):c.5246T>C (p.Ile1749Thr)
NM_015135.3(NUP205):c.5789T>A (p.Leu1930Ter)
NM_015135.3(NUP205):c.821C>T (p.Ala274Val)

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.