ClinVar Miner

List of variants in gene CLN6 reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970
NM_017882.3(CLN6):c.36G>A (p.Ala12=) rs1048000119
NM_017882.3(CLN6):c.58C>T (p.Leu20=) rs886042533
NM_017882.3(CLN6):c.62G>T (p.Gly21Val) rs886042709
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.798C>T (p.Phe266=) rs140319056
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698

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.