ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.2275A>G (p.Asn759Asp) rs147320363
NM_000540.2(RYR1):c.2635G>A (p.Glu879Lys) rs746904839
NM_000540.2(RYR1):c.3418C>T (p.Arg1140Cys) rs193922776
NM_000540.2(RYR1):c.4411G>T (p.Val1471Leu) rs767558988
NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.6549-8G>A rs756593088
NM_000540.2(RYR1):c.6564C>G (p.Asn2188Lys) rs373570763
NM_000540.2(RYR1):c.6961A>G (p.Ile2321Val) rs34390345
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.2(RYR1):c.8156A>T (p.Tyr2719Phe) rs1555785252
NM_000540.2(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829
NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.2(RYR1):c.957+5_957+29del rs794726982
NM_000540.2(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673

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.