List of variants in gene RYR2 reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)	rs202020477	0.00023
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)	rs551099887	0.00022
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)	rs200121281	0.00018
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)	rs200450676	0.00014
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)	rs375482798	0.00010
NM_001035.3(RYR2):c.4596+4C>T	rs397516532	0.00006
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His)	rs373600053	0.00006
NM_001035.3(RYR2):c.950T>C (p.Met317Thr)	rs367601258	0.00004
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)	rs201669522	0.00004
NM_001035.3(RYR2):c.1092A>C (p.Gln364His)	rs763183698	0.00003
NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg)	rs199682282	0.00003
NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu)	rs568198475	0.00003
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)	rs755148895	0.00002
NM_001035.3(RYR2):c.10189C>T (p.Arg3397Cys)	rs764084155	0.00001
NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys)	rs748501600	0.00001
NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser)	rs1330847491	0.00001
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu)	rs779666612	0.00001
NM_001035.3(RYR2):c.1666G>A (p.Asp556Asn)	rs1469603562	0.00001
NM_001035.3(RYR2):c.2863G>A (p.Glu955Lys)	rs745798722	0.00001
NM_001035.3(RYR2):c.4625C>T (p.Ala1542Val)	rs1231744468	0.00001
NM_001035.3(RYR2):c.4626G>A (p.Ala1542=)	rs1272771676	0.00001
NM_001035.3(RYR2):c.8879T>C (p.Ile2960Thr)	rs759048462	0.00001
NM_001035.3(RYR2):c.893G>A (p.Arg298His)	rs754259295	0.00001
NM_001035.3(RYR2):c.9691A>G (p.Met3231Val)	rs374899980	0.00001
NM_001035.3(RYR2):c.10043T>G (p.Met3348Arg)	rs794728767
NM_001035.3(RYR2):c.10190G>T (p.Arg3397Leu)	rs753630324
NM_001035.3(RYR2):c.11383G>A (p.Gly3795Ser)
NM_001035.3(RYR2):c.1211G>C (p.Ser404Thr)
NM_001035.3(RYR2):c.13476+8_13476+11dup	rs864309562
NM_001035.3(RYR2):c.1600T>C (p.Tyr534His)	rs376007579
NM_001035.3(RYR2):c.1640A>T (p.Asn547Ile)
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe)	rs794728813
NM_001035.3(RYR2):c.2042A>G (p.His681Arg)	rs1344581490
NM_001035.3(RYR2):c.2323G>T (p.Val775Phe)
NM_001035.3(RYR2):c.2930A>T (p.Lys977Met)	rs1670046069
NM_001035.3(RYR2):c.6170C>T (p.Thr2057Ile)	rs1679842104
NM_001035.3(RYR2):c.6706G>A (p.Gly2236Ser)	rs1680719186
NM_001035.3(RYR2):c.6827G>T (p.Ser2276Ile)	rs1247927726
NM_001035.3(RYR2):c.7378T>C (p.Phe2460Leu)	rs2547025638
NM_001035.3(RYR2):c.8545C>T (p.His2849Tyr)	rs2547168448

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