ClinVar Miner

List of variants reported as uncertain significance for Neuronal ceroid lipofuscinosis 6 by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634
NM_017882.3(CLN6):c.349_351ATC[2] (p.Ile119del) rs886051447
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) rs1555438678
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) rs1344658850
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu) rs1555438267
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) rs150363441
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) rs1448520404

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.