ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance by Blueprint Genetics,

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe) rs377712921
NM_001035.3(RYR2):c.10471C>G (p.Leu3491Val) rs747700917
NM_001035.3(RYR2):c.10766A>C (p.Lys3589Thr) rs730880195
NM_001035.3(RYR2):c.12379A>C (p.Asn4127His) rs730880197
NM_001035.3(RYR2):c.1238C>T (p.Ser413Leu) rs869025508
NM_001035.3(RYR2):c.12767T>C (p.Met4256Thr) rs530277653
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile) rs750117613
NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu) rs869025514
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr) rs371878264
NM_001035.3(RYR2):c.13276_13278GAA[2] (p.Glu4428del) rs869025516
NM_001035.3(RYR2):c.13285A>T (p.Lys4429Ter) rs869025515
NM_001035.3(RYR2):c.13759A>C (p.Ile4587Leu) rs730880198
NM_001035.3(RYR2):c.14172G>C (p.Trp4724Cys) rs780752317
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln) rs752144775
NM_001035.3(RYR2):c.1604A>G (p.Glu535Gly) rs869025509
NM_001035.3(RYR2):c.2203+3_2203+4dup rs730880376
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg) rs200121281
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743
NM_001035.3(RYR2):c.2951G>A (p.Ser984Asn) rs730880188
NM_001035.3(RYR2):c.3049A>G (p.Thr1017Ala) rs730880189
NM_001035.3(RYR2):c.3080G>A (p.Arg1027Lys) rs730880190
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.378T>A (p.Ser126Arg) rs869025507
NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys) rs759424061
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser) rs727503400
NM_001035.3(RYR2):c.5204G>A (p.Ser1735Asn) rs869025510
NM_001035.3(RYR2):c.5420G>A (p.Arg1807Gln) rs730880192
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln) rs869025511
NM_001035.3(RYR2):c.5732A>T (p.Gln1911Leu) rs730880193
NM_001035.3(RYR2):c.6022+5G>A rs376389213
NM_001035.3(RYR2):c.6203G>T (p.Arg2068Leu) rs869025512
NM_001035.3(RYR2):c.6433G>C (p.Gly2145Arg) rs587782974
NM_001035.3(RYR2):c.6793-4G>T rs568936247
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val) rs869025513
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897
NM_001035.3(RYR2):c.8209-4T>C rs371966353
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) rs730880194
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663

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.