List of variants reported as benign for Malignant hyperthermia, susceptibility to, 1 by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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_000540.3(RYR1):c.6178G>T (p.Gly2060Cys)	rs35364374	0.04719
NM_000540.3(RYR1):c.4024A>G (p.Ser1342Gly)	rs34694816	0.04715
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu)	rs4802584	0.02143
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu)	rs34934920	0.01583
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)	rs55876273	0.01228
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)	rs35180584	0.00291
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)	rs137933390	0.00282
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)	rs150396398

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.