List of variants in gene CLN8 reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)	rs142269885	0.00083
NM_018941.4(CLN8):c.513C>G (p.Pro171=)	rs376910635	0.00073
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)	rs139003032	0.00016
NM_018941.4(CLN8):c.207G>A (p.Thr69=)	rs368365607	0.00014
NM_018941.4(CLN8):c.200C>T (p.Ala67Val)	rs373957283	0.00013
NM_018941.4(CLN8):c.522C>T (p.Cys174=)	rs148417620	0.00008
NM_018941.4(CLN8):c.510G>A (p.Thr170=)	rs759153401	0.00006
NM_018941.4(CLN8):c.385C>T (p.Arg129Trp)	rs143694317	0.00004
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)	rs386834136	0.00004
NM_018941.4(CLN8):c.151G>A (p.Ala51Thr)	rs777453297	0.00001
NM_018941.4(CLN8):c.256C>T (p.Leu86=)	rs755248868	0.00001
NM_018941.4(CLN8):c.614T>C (p.Met205Thr)	rs763967636	0.00001
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)	rs386834129
NM_018941.4(CLN8):c.47T>G (p.Leu16Arg)	rs886043652
NM_018941.4(CLN8):c.527C>T (p.Ser176Phe)	rs794727299
NM_018941.4(CLN8):c.648C>T (p.Phe216=)	rs564074916
NM_018941.4(CLN8):c.837G>A (p.Gln279=)	rs774442159
NM_018941.4(CLN8):c.838C>T (p.Leu280=)	rs886043061
NM_018941.4(CLN8):c.94T>G (p.Phe32Val)	rs758068226

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.