ClinVar Miner

List of variants studied for neuronal ceroid lipofuscinosis by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685 0.00817
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_001909.5(CTSD):c.827+13T>C rs369602025 0.00036
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_001371596.2(MFSD8):c.1351-9C>T rs75039907

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.