ClinVar Miner

List of variants in gene combination AMT, NICN1 reported by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032316.3(NICN1):c.*2328C>T rs386833677 0.00004
NM_000481.4(AMT):c.59del (p.Pro20fs) rs386833686
NM_000481.4(AMT):c.61del (p.Ala21fs) rs386833687
NM_000481.4(AMT):c.63del (p.Leu22fs) rs386833688

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.