ClinVar Miner

List of variants in gene RYR2 reported as benign by Ambry Genetics

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.6906T>C (p.Leu2302=) rs707189 0.96110
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=) rs2685301 0.95962
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=) rs2797441 0.95950
NM_001035.3(RYR2):c.2973A>G (p.Ser991=) rs2253273 0.84980
NM_001035.3(RYR2):c.677-11T>A rs10754602 0.53281
NM_001035.3(RYR2):c.1359C>T (p.Ser453=) rs3765097 0.51474
NM_001035.3(RYR2):c.1612+14T>C rs2045955 0.48321
NM_001035.3(RYR2):c.7806C>T (p.His2602=) rs684923 0.47802
NM_001035.3(RYR2):c.464-8A>C rs10925391 0.33866
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_001035.3(RYR2):c.849-8T>C rs16835237 0.09863
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001035.3(RYR2):c.1611G>A (p.Leu537=) rs78281932 0.05734
NM_001035.3(RYR2):c.5400A>G (p.Lys1800=) rs3820216 0.03524
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414 0.02926
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) rs16835270 0.01462
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_001035.3(RYR2):c.4684-5G>C rs7522981 0.01334
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_001035.3(RYR2):c.6440+20C>T rs115755128 0.01092
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001035.3(RYR2):c.11835C>T (p.Val3945=) rs78939657 0.00787
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815 0.00675
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419 0.00366
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=) rs116442127 0.00308
NM_001035.3(RYR2):c.11880+16G>A rs73103904 0.00306
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472 0.00265
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945 0.00119
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00117
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.1053A>G (p.Thr351=) rs187565743 0.00043
NM_001035.3(RYR2):c.2643A>C (p.Ile881=) rs751869107 0.00006
NM_001035.3(RYR2):c.345C>T (p.Tyr115=) rs397516525 0.00004
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=) rs543120030 0.00001
NM_001035.3(RYR2):c.11326-4A>G rs727504876 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436

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