List of variants reported as likely pathogenic for Catecholaminergic polymorphic ventricular tachycardia 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.11863C>A (p.Gln3955Lys)	rs1558393802
NM_001035.3(RYR2):c.12313C>T (p.Leu4105Phe)	rs1413565928
NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile)	rs1288202574
NM_001035.3(RYR2):c.12457A>C (p.Ser4153Arg)	rs1273246817
NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln)	rs397516508
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val)	rs794728792
NM_001035.3(RYR2):c.13735C>T (p.His4579Tyr)	rs794728830
NM_001035.3(RYR2):c.139T>C (p.Cys47Arg)	rs2528051422
NM_001035.3(RYR2):c.14297A>C (p.Gln4766Pro)	rs2528138701

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.