ClinVar Miner

List of variants reported as likely pathogenic for Neurodegeneration with brain iron accumulation 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_001256047.1(C19orf12):c.154G>C (p.Ala52Pro) rs376103979
NM_001256047.1(C19orf12):c.172G>A (p.Gly58Arg) rs515726205
NM_001256047.1(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_001256047.1(C19orf12):c.303G>A (p.Trp101Ter) rs1555714808
NM_001256047.1(C19orf12):c.371dup (p.Met124fs) rs1568326754

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.