List of variants reported as likely benign for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form by Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences

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

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp)	rs10282312	0.98349
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=)	rs2272251	0.44456
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu)	rs13438232	0.39778
NM_000083.3(CLCN1):c.-21C>T	rs34904831	0.04948
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)	rs118066140	0.00457
NM_000083.3(CLCN1):c.663G>A (p.Ala221=)	rs147317366	0.00424
NM_000083.3(CLCN1):c.86A>C (p.His29Pro)	rs146160029	0.00231
NM_000083.3(CLCN1):c.804G>A (p.Thr268=)	rs141521078	0.00021

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.