List of variants in gene CLCN1 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2284+5C>T	rs74824159	0.01735
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	rs55960271	0.00561
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	rs149729531	0.00075
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)	rs767366093	0.00004
NM_000083.3(CLCN1):c.523A>G (p.Ser175Gly)	rs555680428	0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)	rs80356692	0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	rs80356702	0.00001
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu)	rs1554436510
NM_000083.3(CLCN1):c.1662_1663dup (p.His555fs)	rs1554438441
NM_000083.3(CLCN1):c.2284+12C>G	rs1472307602
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)	rs797045032
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)	rs80356690
NM_000083.3(CLCN1):c.979+1G>T	rs1563078827

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.