ClinVar Miner

List of variants in gene RYR2 reported as likely benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001035.3(RYR2):c.1110A>G (p.Leu370=) rs150705689 0.00063
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00046
NM_001035.3(RYR2):c.577-14G>A rs148019277 0.00021
NM_001035.3(RYR2):c.1006-12C>T rs367998175 0.00019
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=) rs566157997 0.00019
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=) rs373769240 0.00011
NM_001035.3(RYR2):c.2772G>A (p.Leu924=) rs780664060 0.00006
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=) rs370740528 0.00006
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=) rs756280887 0.00004
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=) rs548313130 0.00003
NM_001035.3(RYR2):c.14152-15G>A rs371785571 0.00003
NM_001035.3(RYR2):c.11477-20T>A rs1347306061 0.00001
NM_001035.3(RYR2):c.2922T>C (p.Ser974=) rs750392459 0.00001
NM_001035.3(RYR2):c.4359T>C (p.Tyr1453=) rs1054102228 0.00001
NM_001035.3(RYR2):c.6138A>G (p.Lys2046=) rs1388384997 0.00001
NM_001035.3(RYR2):c.1108C>T (p.Leu370=) rs534621173
NM_001035.3(RYR2):c.1395C>A (p.Pro465=) rs111990043
NM_001035.3(RYR2):c.310-23_310-21del rs547213887
NM_001035.3(RYR2):c.464-8A>T rs10925391

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.