ClinVar Miner

List of variants reported as pathogenic for Neuronal ceroid lipofuscinosis 7 by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_152778.3(MFSD8):c.1102G>C (p.Asp368His) rs727502800
NM_152778.3(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970
NM_152778.3(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235
NM_152778.3(MFSD8):c.1286G>A (p.Gly429Asp) rs118203976
NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_152778.3(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_152778.3(MFSD8):c.863+3_863+4insT rs727502801
NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_152778.3(MFSD8):c.894T>G (p.Tyr298Ter) rs118203977
NM_152778.3(MFSD8):c.929G>A (p.Gly310Asp) rs118203975

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.