List of variants in gene RYR2 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
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: 27

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.13566C>T (p.Val4522=)	rs57360419	0.00366
NM_001035.3(RYR2):c.2396+17T>G	rs376363428	0.00207
NM_001035.3(RYR2):c.4596+12G>A	rs148557427	0.00153
NM_001035.3(RYR2):c.1134C>T (p.Asp378=)	rs193922621	0.00071
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)	rs370332882	0.00051
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)	rs200236750	0.00051
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)	rs200525962	0.00048
NM_001035.3(RYR2):c.11246-11del	rs397516503	0.00038
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=)	rs397516505	0.00038
NM_001035.3(RYR2):c.3067-16_3067-15del	rs727504453	0.00031
NM_001035.3(RYR2):c.774-14G>T	rs370114411	0.00031
NM_001035.3(RYR2):c.10231-5C>T	rs186326951	0.00028
NM_001035.3(RYR2):c.10143-19T>C	rs373127797	0.00021
NM_001035.3(RYR2):c.1006-12C>T	rs367998175	0.00019
NM_001035.3(RYR2):c.8592A>G (p.Gly2864=)	rs763801208	0.00016
NM_001035.3(RYR2):c.2630A>C (p.His877Pro)	rs561321743	0.00011
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=)	rs368103385	0.00010
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=)	rs367987360	0.00008
NM_001035.3(RYR2):c.10017C>T (p.His3339=)	rs376439588	0.00007
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)	rs774625105	0.00007
NM_001035.3(RYR2):c.594C>T (p.Asn198=)	rs727504676	0.00005
NM_001035.3(RYR2):c.1203T>C (p.Asp401=)	rs1196750903	0.00001
NM_001035.3(RYR2):c.8129+20C>A	rs755080362	0.00001
NM_001035.3(RYR2):c.10838+3C>T	rs1417807379
NM_001035.3(RYR2):c.1293-18G>A	rs1572400333
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=)	rs371560909
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)	rs2797436

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