ClinVar Miner

List of variants in gene RYR2 reported 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: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=) rs2797441 0.95950
NM_001035.3(RYR2):c.2973A>G (p.Ser991=) rs2253273 0.84980
NM_001035.3(RYR2):c.13783-6A>G rs790901 0.66919
NM_001035.3(RYR2):c.13913+12A>C rs790900 0.66578
NM_001035.3(RYR2):c.1359C>T (p.Ser453=) rs3765097 0.51474
NM_001035.3(RYR2):c.1612+14T>C rs2045955 0.48321
NM_001035.3(RYR2):c.11963-11T>C rs790889 0.35417
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414 0.02926
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_001035.3(RYR2):c.10230+20T>C rs74323916 0.01122
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_001035.3(RYR2):c.10143-18A>G rs3736542 0.00594
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_001035.3(RYR2):c.6441-19C>T rs140440259 0.00239
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00071
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.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00046
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001035.3(RYR2):c.14809-20C>T rs141119268 0.00028
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907 0.00025
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.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=) rs373769240 0.00011
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala) rs376612295 0.00007
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His) rs373600053 0.00007
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.10517G>A (p.Arg3506Gln) rs748805290 0.00002
NM_001035.3(RYR2):c.11477-20T>A rs1347306061 0.00001
NM_001035.3(RYR2):c.2423A>G (p.His808Arg) rs757443712 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.1477-11dup rs397516518
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.310-23_310-21del rs547213887
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.464-8A>T rs10925391
NM_001035.3(RYR2):c.7543G>A (p.Ala2515Thr) rs1682556050
NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr) rs1419719746

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.