ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance by Fulgent Genetics,Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.12322C>G (p.Gln4108Glu) rs774414325
NM_000540.2(RYR1):c.12629A>G (p.Lys4210Arg) rs138932463
NM_000540.2(RYR1):c.13477C>G (p.Pro4493Ala) rs149455643
NM_000540.2(RYR1):c.14173G>C (p.Val4725Leu)
NM_000540.2(RYR1):c.4205C>T (p.Pro1402Leu) rs766135560
NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.2(RYR1):c.4847C>T (p.Thr1616Met) rs776194441
NM_000540.2(RYR1):c.526G>A (p.Glu176Lys) rs761616815
NM_000540.2(RYR1):c.641C>T (p.Thr214Met) rs727504129
NM_000540.2(RYR1):c.6838G>T (p.Val2280Phe) rs193922797
NM_000540.2(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292
NM_000540.2(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676
NM_000540.2(RYR1):c.9277C>T (p.Arg3093Cys) rs1064797039
NM_000540.2(RYR1):c.9860G>A (p.Arg3287His) rs756487708

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.