ClinVar Miner

List of variants in gene combination HGSNAT, LOC130000316 reported as uncertain significance for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro) rs1025643467 0.00010
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu) rs1465935790 0.00001
NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg) rs1387365931 0.00001
NM_152419.3(HGSNAT):c.89G>C (p.Gly30Ala) rs1490698793 0.00001
NM_152419.3(HGSNAT):c.110C>G (p.Pro37Arg) rs1465935790
NM_152419.3(HGSNAT):c.117A>C (p.Arg39=) rs1802484828
NM_152419.3(HGSNAT):c.14G>T (p.Gly5Val)
NM_152419.3(HGSNAT):c.28G>C (p.Ala10Pro)
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del) rs1274083689
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.41C>T (p.Ala14Val) rs2130647887
NM_152419.3(HGSNAT):c.43_44delinsTT (p.Ala15Leu) rs2130647901
NM_152419.3(HGSNAT):c.43_72del (p.Ala15_Ala24del) rs2130647831
NM_152419.3(HGSNAT):c.52C>G (p.Leu18Val)
NM_152419.3(HGSNAT):c.64C>G (p.Leu22Val)
NM_152419.3(HGSNAT):c.74C>G (p.Pro25Arg) rs2130648242
NM_152419.3(HGSNAT):c.82T>C (p.Ser28Pro) rs1802482509
NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu) rs1490698793
NM_152419.3(HGSNAT):c.8G>C (p.Gly3Ala)
NM_152419.3(HGSNAT):c.96T>A (p.Asp32Glu)
NM_152419.3(HGSNAT):c.98C>T (p.Ala33Val) rs1802483575

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.