List of variants in gene RYR2 reported as likely benign by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
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.7488C>T (p.Leu2496=)	rs143906555	0.00397
NM_001035.3(RYR2):c.10324-4A>G	rs72751287	0.00203
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)	rs144256966	0.00132
NM_001035.3(RYR2):c.828A>G (p.Arg276=)	rs180711819	0.00086
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.615C>T (p.Ala205=)	rs112680790	0.00063
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)	rs370332882	0.00051
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=)	rs371931287	0.00039
NM_001035.3(RYR2):c.14757-7T>A	rs757297613	0.00026
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=)	rs750335699	0.00024
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)	rs551099887	0.00024
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)	rs564806219	0.00018
NM_001035.3(RYR2):c.1476+4C>T	rs369442980	0.00014
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)	rs200070226	0.00014
NM_001035.3(RYR2):c.7062C>T (p.Ala2354=)	rs182038403	0.00013
NM_001035.3(RYR2):c.14757-6C>T	rs779122362	0.00010
NM_001035.3(RYR2):c.684C>T (p.Leu228=)	rs72549417	0.00008
NM_001035.3(RYR2):c.13329-3T>C	rs542440592	0.00007
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)	rs200318013	0.00004
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)	rs548313130	0.00003
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=)	rs397516537	0.00003
NM_001035.3(RYR2):c.11208G>A (p.Ala3736=)	rs750384592	0.00002
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)	rs398123540	0.00002
NM_001035.3(RYR2):c.13656T>C (p.His4552=)	rs397516512	0.00001
NM_001035.3(RYR2):c.4428G>A (p.Val1476=)	rs747148516	0.00001
NM_001035.3(RYR2):c.3267T>C (p.Arg1089=)	rs761738779
NM_001035.3(RYR2):c.4368C>G (p.Gly1456=)	rs1057522920
NM_001035.3(RYR2):c.5127C>A (p.Ile1709=)	rs1553522097
NM_001035.3(RYR2):c.6144T>C (p.Val2048=)	rs2148657987
NM_001035.3(RYR2):c.6555+8C>G	rs1759122
NM_001035.3(RYR2):c.7575G>A (p.Leu2525=)	rs1682560212

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