List of variants in gene CLCN1 reported by Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2284+5C>T	rs74824159	0.01735
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=)	rs78085922	0.01719
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr)	rs41276054	0.00925
NM_000083.3(CLCN1):c.1797-9C>T	rs41276057	0.00913
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)	rs118066140	0.00465

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.