ClinVar Miner

List of variants in gene RYR1 reported by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000540.3(RYR1):c.10422C>G (p.Asn3474Lys) rs769661588 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.9971T>C (p.Val3324Ala) rs141515745 0.00002
NM_000540.3(RYR1):c.13370T>G (p.Met4457Arg) rs1394722307 0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_000540.3(RYR1):c.4744G>A (p.Glu1582Lys) rs1200734670 0.00001
NM_000540.3(RYR1):c.6139G>C (p.Asp2047His) rs763963516 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000540.3(RYR1):c.9559C>T (p.Arg3187Trp) rs1376794459 0.00001
NM_000540.3(RYR1):c.10477C>T (p.Arg3493Cys) rs750367227
NM_000540.3(RYR1):c.12024G>C (p.Gln4008His) rs1972429144
NM_000540.3(RYR1):c.1291G>A (p.Ala431Thr) rs768357333
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14647-3_14647del rs1568611362
NM_000540.3(RYR1):c.3526A>G (p.Thr1176Ala) rs1968278835
NM_000540.3(RYR1):c.5318C>G (p.Pro1773Arg) rs1969269453
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met) rs746971794

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.