List of variants in gene RYR2 reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)	rs201131315	0.00016
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)	rs193922624	0.00013
NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln)	rs376908332	0.00010
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)	rs727503404	0.00009
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala)	rs376612295	0.00007
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys)	rs559154874	0.00005
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser)	rs199624074	0.00005
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)	rs200318013	0.00004
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met)	rs200803276	0.00002
NM_001035.3(RYR2):c.556G>A (p.Val186Met)	rs201211033	0.00002
NM_001035.3(RYR2):c.1509C>A (p.Asp503Glu)	rs764532025	0.00001
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu)	rs537596448	0.00001
NM_001035.3(RYR2):c.7807G>A (p.Ala2603Thr)	rs59331340	0.00001
NM_001035.3(RYR2):c.10528C>T (p.Arg3510Cys)	rs201749277
NM_001035.3(RYR2):c.11126A>T (p.Glu3709Val)	rs200013680
NM_001035.3(RYR2):c.136C>A (p.Leu46Ile)	rs200643211
NM_001035.3(RYR2):c.4891C>T (p.His1631Tyr)	rs786205423
NM_001035.3(RYR2):c.5652G>T (p.Lys1884Asn)	rs202117250
NM_001035.3(RYR2):c.5657dup (p.Lys1887fs)	rs786205273
NM_001035.3(RYR2):c.6689C>T (p.Ala2230Val)	rs786205270
NM_001035.3(RYR2):c.8273A>G (p.Lys2758Arg)	rs200053476
NM_001035.3(RYR2):c.9841T>G (p.Leu3281Val)	rs786205424

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