ClinVar Miner

List of variants in gene RYR1 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000540.2(RYR1):c.10348-6C>G rs193922837
NM_000540.2(RYR1):c.12315_12328del (p.Glu4106fs) rs886042171
NM_000540.2(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.2(RYR1):c.12612G>A (p.Trp4204Ter) rs794727982
NM_000540.2(RYR1):c.12625-1G>T rs794727984
NM_000540.2(RYR1):c.1841G>T (p.Arg614Leu) rs193922772
NM_000540.2(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.2(RYR1):c.3982_3986del (p.Pro1327_Asp1328insTer) rs1555775774
NM_000540.2(RYR1):c.4076del (p.Gly1359fs) rs794727460
NM_000540.2(RYR1):c.6274+1G>A rs1226228092
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.7373G>A (p.Arg2458His) rs121918594
NM_000540.2(RYR1):c.7463_7475del (p.Pro2488fs) rs794727683
NM_000540.2(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205

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.