List of variants in gene CLN6 studied for Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)	rs104894483	0.00140
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)	rs3743088	0.00042
NM_017882.3(CLN6):c.338C>T (p.Thr113Met)	rs758830997	0.00003
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)	rs154774634	0.00002
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)	rs150363441	0.00002
NM_017882.3(CLN6):c.350T>G (p.Ile117Ser)	rs752212030	0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)	rs750937323	0.00001
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)	rs154774635
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr)	rs154774636
NM_017882.3(CLN6):c.185G>A (p.Arg62His)	rs751486476
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro)	rs154774633
NM_017882.3(CLN6):c.395_396del (p.Ser132fs)	rs774543080
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys)	rs1012449574
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys)	rs1227254537
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)	rs919850756
NM_017882.3(CLN6):c.506T>A (p.Leu169His)	rs1344658850

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.