ClinVar Miner

List of variants in gene RYR1 reported as benign by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1122+52T>C rs4476278 0.98614
NM_000540.3(RYR1):c.1077T>C (p.Ala359=) rs10406027 0.90489
NM_000540.3(RYR1):c.1244+189G>A rs4802469 0.90004
NM_000540.3(RYR1):c.2578-67A>G rs2304148 0.80109
NM_000540.3(RYR1):c.1925+86T>C rs2071085 0.65304
NM_000540.3(RYR1):c.1668G>A (p.Ser556=) rs2288888 0.64200
NM_000540.3(RYR1):c.2168-57T>G rs4802474 0.62888
NM_000540.3(RYR1):c.2286C>T (p.Pro762=) rs3745847 0.62871
NM_000540.3(RYR1):c.2361-68C>T rs2304147 0.62861
NM_000540.3(RYR1):c.2943G>A (p.Thr981=) rs2228069 0.60233
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_000540.3(RYR1):c.3456C>T (p.Ile1152=) rs11083462 0.38131
NM_000540.3(RYR1):c.7926+28A>G rs1469699 0.34603
NM_000540.3(RYR1):c.8068-155A>G rs2915950 0.34559
NM_000540.3(RYR1):c.8067+152G>A rs2915949 0.33561
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_000540.3(RYR1):c.8816+17T>A rs2915959 0.32203
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8692+137T>C rs2915957 0.32156
NM_000540.3(RYR1):c.8816+43A>C rs2960346 0.32141
NM_000540.3(RYR1):c.8816+87G>T rs2960347 0.31882
NM_000540.3(RYR1):c.8617-35C>T rs2960344 0.31588
NM_000540.3(RYR1):c.8692+28T>G rs2960345 0.31541
NM_000540.3(RYR1):c.10440+235T>C rs3786829 0.27932
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000540.3(RYR1):c.10825-218C>G rs908644 0.21610
NM_000540.3(RYR1):c.4935-53T>G rs16972651 0.21181
NM_000540.3(RYR1):c.9173-98T>G rs2960337 0.20350
NM_000540.3(RYR1):c.2979C>T (p.Asn993=) rs2228070 0.19758
NM_000540.3(RYR1):c.4161-6T>C rs55845760 0.19230
NM_000540.3(RYR1):c.800+142T>G rs73930577 0.18107
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=) rs1469698 0.17268
NM_000540.3(RYR1):c.8933-192A>G rs58360688 0.17014
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_000540.3(RYR1):c.2167+31C>G rs2071086 0.16029
NM_000540.3(RYR1):c.9173-21C>T rs2960338 0.15903
NM_000540.3(RYR1):c.1925+150C>G rs73044990 0.13102
NM_000540.3(RYR1):c.13515-239C>G rs2960320 0.12656
NM_000540.3(RYR1):c.270+27G>A rs3745843 0.12316
NM_000540.3(RYR1):c.5814+35C>G rs16972654 0.11720
NM_000540.3(RYR1):c.14646+113C>T rs7254175 0.11636
NM_000540.3(RYR1):c.6548+228C>T rs35632532 0.11141
NM_000540.3(RYR1):c.5815-123G>A rs11880126 0.10629
NM_000540.3(RYR1):c.9123-61C>T rs2960336 0.10368
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_000540.3(RYR1):c.5548-76G>A rs74778515 0.10141
NM_000540.3(RYR1):c.7500G>A (p.Ala2500=) rs2228072 0.09736
NM_000540.3(RYR1):c.11141+55C>T rs61441471 0.09039
NM_000540.3(RYR1):c.7527G>A (p.Val2509=) rs2071088 0.08780
NM_000540.3(RYR1):c.6549-157C>T rs59167126 0.07818
NM_000540.3(RYR1):c.7836-66A>G rs1469697 0.07682
NM_000540.3(RYR1):c.6128-184A>T rs80096436 0.07106
NM_000540.3(RYR1):c.6039A>G (p.Lys2013=) rs2228068 0.07074
NM_000540.3(RYR1):c.5334G>T (p.Ser1778=) rs35566549 0.06569
NM_000540.3(RYR1):c.7323+20C>A rs2234709 0.06555
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_000540.3(RYR1):c.13998+52T>G rs748813169 0.06273
NM_000540.3(RYR1):c.6664-32A>G rs73930595 0.06147
NM_000540.3(RYR1):c.9690G>A (p.Leu3230=) rs2304151 0.05835
NM_000540.3(RYR1):c.631+49C>T rs57132842 0.05738
NM_000540.3(RYR1):c.11907+22G>A rs45555835 0.05550
NM_000540.3(RYR1):c.14130-201G>A rs12459409 0.05332
NM_000540.3(RYR1):c.9685+233T>C rs2915943 0.05325
NM_000540.3(RYR1):c.9472+30C>T rs77374921 0.05323
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374 0.04719
NM_000540.3(RYR1):c.4024A>G (p.Ser1342Gly) rs34694816 0.04715
NM_000540.3(RYR1):c.3858T>C (p.Leu1286=) rs16972636 0.04660
NM_000540.3(RYR1):c.14969+72C>T rs111891859 0.04506
NM_000540.3(RYR1):c.14969+32G>C rs113102243 0.04497
NM_000540.3(RYR1):c.10687-10C>T rs77592501 0.04475
NM_000540.3(RYR1):c.45+121A>G rs79912670 0.04415
NM_000540.3(RYR1):c.-108T>C rs4632259 0.04408
NM_000540.3(RYR1):c.10687-126A>G rs112541479 0.04275
NM_000540.3(RYR1):c.12012+97G>A rs78884140 0.04274
NM_000540.3(RYR1):c.12283-98T>C rs113916872 0.04192
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_000540.3(RYR1):c.271-148A>G rs73554209 0.04157
NM_000540.3(RYR1):c.4294-125G>T rs77702866 0.03956
NM_000540.3(RYR1):c.4293+121T>C rs56942001 0.03945
NM_000540.3(RYR1):c.4293+166T>C rs60228500 0.03945
NM_000540.3(RYR1):c.6548+43G>A rs75563090 0.03944
NM_000540.3(RYR1):c.10218C>T (p.Tyr3406=) rs41274330 0.03876
NM_000540.3(RYR1):c.166-163G>C rs78625999 0.03796
NM_000540.3(RYR1):c.5815-50C>T rs111928389 0.03723
NM_000540.3(RYR1):c.3765+154C>G rs76563952 0.03563
NM_000540.3(RYR1):c.4454+29G>A rs7258503 0.03325
NM_000540.3(RYR1):c.8817-63A>G rs35648526 0.03282
NM_000540.3(RYR1):c.12094+11A>G rs73933018 0.03267
NM_000540.3(RYR1):c.9555-13C>T rs2960328 0.03214
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_000540.3(RYR1):c.5112C>T (p.Gly1704=) rs35352076 0.02832
NM_000540.3(RYR1):c.6548+195T>C rs35968585 0.02799
NM_000540.3(RYR1):c.9554+101A>G rs78341134 0.02502
NM_000540.3(RYR1):c.2361-42A>G rs115515082 0.02347
NM_000540.3(RYR1):c.7615-68C>T rs113858376 0.02217
NM_000540.3(RYR1):c.11908-25C>G rs2292797 0.02197
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02149
NM_000540.3(RYR1):c.11908-23C>T rs2292798 0.02144
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_000540.3(RYR1):c.11260-19T>G rs4802583 0.02140
NM_000540.3(RYR1):c.166-44G>C rs115526671 0.02045
NM_000540.3(RYR1):c.4160+79A>C rs114989580 0.02043
NM_000540.3(RYR1):c.10441-49C>T rs59703889 0.01878
NM_000540.3(RYR1):c.12624+14C>T rs75797287 0.01777
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_000540.3(RYR1):c.14647-36G>A rs114134909 0.01575
NM_000540.3(RYR1):c.12012+18C>A rs116792069 0.01340
NM_000540.3(RYR1):c.1245-29C>T rs35839245 0.01309
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_000540.3(RYR1):c.7027+27C>T rs3745851 0.00694
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381 0.00685
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.10259+217T>G rs2960327
NM_000540.3(RYR1):c.10455+73C>T rs73544616
NM_000540.3(RYR1):c.10938-86A>G rs6508806
NM_000540.3(RYR1):c.11609-133A>T rs112148182
NM_000540.3(RYR1):c.11689+159T>C rs2071091
NM_000540.3(RYR1):c.11689+159T>G rs2071091
NM_000540.3(RYR1):c.13660-78C>A rs111512034
NM_000540.3(RYR1):c.13999-198G>C rs117175310
NM_000540.3(RYR1):c.14256A>C (p.Thr4752=) rs1468571
NM_000540.3(RYR1):c.1440+74G>A rs12460768
NM_000540.3(RYR1):c.15021+37G>T rs73032657
NM_000540.3(RYR1):c.165+169G>A rs2304146
NM_000540.3(RYR1):c.1672+29G>C rs2288889
NM_000540.3(RYR1):c.1792-103C>T rs114840566
NM_000540.3(RYR1):c.3179-122C>T rs115703825
NM_000540.3(RYR1):c.4161-74G>T rs112210268
NM_000540.3(RYR1):c.6015+87C>T rs17708009
NM_000540.3(RYR1):c.9554+190G>T rs2915942

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