ClinVar Miner

List of variants in gene RYR1 reported as benign for Congenital multicore myopathy with external ophthalmoplegia

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1077T>C (p.Ala359=) rs10406027 0.90489
NM_000540.3(RYR1):c.1668G>A (p.Ser556=) rs2288888 0.63615
NM_000540.3(RYR1):c.2286C>T (p.Pro762=) rs3745847 0.62871
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_000540.3(RYR1):c.2943G>A (p.Thr981=) rs2228069 0.60233
NM_000540.3(RYR1):c.3456C>T (p.Ile1152=) rs11083462 0.38682
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_000540.3(RYR1):c.7926+28A>G rs1469699 0.34958
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.8816+43A>C rs2960346 0.32621
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.8617-35C>T rs2960344 0.31588
NM_000540.3(RYR1):c.8692+28T>G rs2960345 0.31541
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23229
NM_000540.3(RYR1):c.2979C>T (p.Asn993=) rs2228070 0.20363
NM_000540.3(RYR1):c.4161-6T>C rs55845760 0.19230
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=) rs1469698 0.17080
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16968
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.11845
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_000540.3(RYR1):c.7500G>A (p.Ala2500=) rs2228072 0.09736
NM_000540.3(RYR1):c.7527G>A (p.Val2509=) rs2071088 0.08780
NM_000540.3(RYR1):c.6039A>G (p.Lys2013=) rs2228068 0.07402
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06653
NM_000540.3(RYR1):c.5334G>T (p.Ser1778=) rs35566549 0.06569
NM_000540.3(RYR1):c.9690G>A (p.Leu3230=) rs2304151 0.06289
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.10218C>T (p.Tyr3406=) rs41274330 0.04689
NM_000540.3(RYR1):c.10687-10C>T rs77592501 0.04475
NM_000540.3(RYR1):c.-108T>C rs4632259 0.04408
NM_000540.3(RYR1):c.3858T>C (p.Leu1286=) rs16972636 0.04369
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
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 0.03006
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03001
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02804
NM_000540.3(RYR1):c.5112C>T (p.Gly1704=) rs35352076 0.02672
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02290
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=) rs35021937 0.02251
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_000540.3(RYR1):c.12624+14C>T rs75797287 0.01777
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01258
NM_000540.3(RYR1):c.11625G>A (p.Ala3875=) rs61729397 0.00991
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00899
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00745
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=) rs77310009 0.00694
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381 0.00685
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00648
NM_000540.3(RYR1):c.3876C>A (p.Leu1292=) rs143750836 0.00639
NM_000540.3(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391 0.00619
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=) rs35480887 0.00563
NM_000540.3(RYR1):c.8068-14C>T rs57376136 0.00554
NM_000540.3(RYR1):c.873G>A (p.Ala291=) rs2229140 0.00484
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00478
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=) rs142610625 0.00443
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=) rs200451188 0.00422
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=) rs140004449 0.00403
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=) rs2228074 0.00351
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00277
NM_000540.3(RYR1):c.-102C>T rs190259953 0.00171
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_000540.3(RYR1):c.7788C>T (p.Thr2596=) rs199636890 0.00039
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857 0.00031
NM_000540.3(RYR1):c.6127+3A>G rs78851466 0.00031
NM_000540.3(RYR1):c.4758G>A (p.Pro1586=) rs374222028 0.00010
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.14256A>C (p.Thr4752=) rs1468571
NM_000540.3(RYR1):c.1672+29G>C rs2288889
NM_000540.3(RYR1):c.2004C>T (p.Asp668=) rs78835441
NM_000540.3(RYR1):c.631+39dup rs35018208
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.8068-29_8068-27del rs796750554
NM_000540.3(RYR1):c.8932+34dup rs5828009
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339

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