ClinVar Miner

List of variants in gene RYR1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 167
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HGVS dbSNP
NM_000540.2(RYR1):c.10018+7C>T rs797045928
NM_000540.2(RYR1):c.1001G>T (p.Gly334Val) rs587784371
NM_000540.2(RYR1):c.10048C>A (p.Arg3350=) rs200355885
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.10218C>T (p.Tyr3406=) rs41274330
NM_000540.2(RYR1):c.10259+7G>A rs143752962
NM_000540.2(RYR1):c.10564C>A (p.Leu3522Met) rs200144997
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.10687-10C>T rs77592501
NM_000540.2(RYR1):c.10687-7C>A rs2960354
NM_000540.2(RYR1):c.10687-7C>T rs2960354
NM_000540.2(RYR1):c.10725_10726del (p.Tyr3576fs) rs1555790936
NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273
NM_000540.2(RYR1):c.1077T>C (p.Ala359=) rs10406027
NM_000540.2(RYR1):c.11141+7A>G rs78350770
NM_000540.2(RYR1):c.1123-11C>T rs3745845
NM_000540.2(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584
NM_000540.2(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839
NM_000540.2(RYR1):c.1140G>A (p.Glu380=) rs35189056
NM_000540.2(RYR1):c.11547G>A (p.Gln3849=) rs142518033
NM_000540.2(RYR1):c.11625G>A (p.Ala3875=) rs61729397
NM_000540.2(RYR1):c.11754T>A (p.Thr3918=) rs45613041
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.1186_1187inv (p.Glu396Ser)
NM_000540.2(RYR1):c.11908-14A>G rs2292799
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.12094+11A>G rs73933018
NM_000540.2(RYR1):c.12160G>A (p.Val4054Met) rs769642510
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.12588C>T (p.Ile4196=) rs61739895
NM_000540.2(RYR1):c.12624+14C>T rs75797287
NM_000540.2(RYR1):c.12741C>T (p.Ala4247=) rs80039127
NM_000540.2(RYR1):c.12852_12860CACGGCGGC[3] (p.4285_4287TAA[3]) rs398123469
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.12881C>T (p.Thr4294Met) rs587784372
NM_000540.2(RYR1):c.12884C>T (p.Ala4295Val) rs193922855
NM_000540.2(RYR1):c.12990C>G (p.Thr4330=) rs184450380
NM_000540.2(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.2(RYR1):c.13122G>A (p.Val4374=) rs797045930
NM_000540.2(RYR1):c.13317C>T (p.Ala4439=) rs113579185
NM_000540.2(RYR1):c.13350G>A (p.Gly4450=) rs748743312
NM_000540.2(RYR1):c.13464G>A (p.Pro4488=) rs10405232
NM_000540.2(RYR1):c.13503G>A (p.Pro4501=) rs2960319
NM_000540.2(RYR1):c.13671C>G (p.Ser4557=) rs35959206
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.13768G>A (p.Glu4590Lys) rs766518951
NM_000540.2(RYR1):c.14256A>C (p.Thr4752=) rs1468571
NM_000540.2(RYR1):c.14304-10G>A rs368201693
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.2(RYR1):c.14646G>A (p.Thr4882=) rs536148030
NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.2(RYR1):c.14761_14763TTC[3] (p.Phe4924del) rs1064794572
NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158
NM_000540.2(RYR1):c.14842C>A (p.Gln4948Lys) rs1555805633
NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.2(RYR1):c.1577-6C>G rs61586345
NM_000540.2(RYR1):c.1589G>T (p.Arg530Leu) rs111888148
NM_000540.2(RYR1):c.1668G>A (p.Ser556=) rs2288888
NM_000540.2(RYR1):c.1792-8A>T rs746765869
NM_000540.2(RYR1):c.1878_1882del (p.Pro626_Gly627insTer) rs797045931
NM_000540.2(RYR1):c.1901C>G (p.Thr634Arg) rs1555769544
NM_000540.2(RYR1):c.2091C>T (p.Ala697=) rs138704724
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.216G>T (p.Leu72=) rs113389877
NM_000540.2(RYR1):c.2199G>C (p.Gly733=) rs749285937
NM_000540.2(RYR1):c.2286C>T (p.Pro762=) rs3745847
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.2(RYR1):c.2622G>A (p.Ala874=) rs149381996
NM_000540.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_000540.2(RYR1):c.2658C>T (p.Ile886=) rs148094797
NM_000540.2(RYR1):c.2870+1G>A rs765241115
NM_000540.2(RYR1):c.2871-5C>T rs45585535
NM_000540.2(RYR1):c.2919C>T (p.His973=) rs139363830
NM_000540.2(RYR1):c.2943G>A (p.Thr981=) rs2228069
NM_000540.2(RYR1):c.2979C>T (p.Asn993=) rs2228070
NM_000540.2(RYR1):c.3014G>A (p.Ser1005Asn) rs780145264
NM_000540.2(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup) rs797045933
NM_000540.2(RYR1):c.325C>T (p.Arg109Trp) rs118192173
NM_000540.2(RYR1):c.3381+1G>A rs797045934
NM_000540.2(RYR1):c.3456C>T (p.Ile1152=) rs11083462
NM_000540.2(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.2(RYR1):c.3686T>C (p.Met1229Thr) rs750057461
NM_000540.2(RYR1):c.3801dup (p.Cys1268fs) rs587784374
NM_000540.2(RYR1):c.3858T>C (p.Leu1286=) rs16972636
NM_000540.2(RYR1):c.3876C>A (p.Leu1292=) rs143750836
NM_000540.2(RYR1):c.4024A>G (p.Ser1342Gly) rs34694816
NM_000540.2(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381
NM_000540.2(RYR1):c.4090G>T (p.Gly1364Trp) rs35869497
NM_000540.2(RYR1):c.4094dup (p.Glu1366fs) rs587784375
NM_000540.2(RYR1):c.4107C>T (p.Pro1369=) rs11882640
NM_000540.2(RYR1):c.4161-6T>C rs55845760
NM_000540.2(RYR1):c.4225C>T (p.Arg1409Ter) rs587784376
NM_000540.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_000540.2(RYR1):c.4466G>A (p.Ser1489Asn) rs34404839
NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.5112C>T (p.Gly1704=) rs35352076
NM_000540.2(RYR1):c.526G>A (p.Glu176Lys) rs761616815
NM_000540.2(RYR1):c.5334G>T (p.Ser1778=) rs35566549
NM_000540.2(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920
NM_000540.2(RYR1):c.5493G>T (p.Gly1831=) rs140004449
NM_000540.2(RYR1):c.5622A>G (p.Glu1874=) rs35021937
NM_000540.2(RYR1):c.5628_5630GGA[2] (p.Glu1878del) rs371047178
NM_000540.2(RYR1):c.5674_5676del (p.Lys1892del) rs587784377
NM_000540.2(RYR1):c.573C>T (p.Asp191=) rs892054
NM_000540.2(RYR1):c.5910G>C (p.Gln1970His) rs1555780327
NM_000540.2(RYR1):c.594A>G (p.Leu198=) rs2229139
NM_000540.2(RYR1):c.6039A>G (p.Lys2013=) rs2228068
NM_000540.2(RYR1):c.6127+1G>A rs1283302989
NM_000540.2(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374
NM_000540.2(RYR1):c.619C>T (p.Arg207Cys) rs748140394
NM_000540.2(RYR1):c.6262G>A (p.Glu2088Lys) rs587784378
NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000540.2(RYR1):c.6654C>T (p.Gly2218=) rs149185729
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.6838G>A (p.Val2280Ile) rs193922797
NM_000540.2(RYR1):c.7089C>T (p.Cys2363=) rs2228071
NM_000540.2(RYR1):c.7098C>T (p.Pro2366=) rs2229147
NM_000540.2(RYR1):c.7204C>T (p.Arg2402Trp) rs575780192
NM_000540.2(RYR1):c.7209C>T (p.Arg2403=) rs78795178
NM_000540.2(RYR1):c.7260C>T (p.His2420=) rs12973632
NM_000540.2(RYR1):c.7281C>T (p.Ala2427=) rs77310009
NM_000540.2(RYR1):c.7425G>A (p.Gln2475=) rs35512081
NM_000540.2(RYR1):c.7487C>G (p.Pro2496Arg) rs193922817
NM_000540.2(RYR1):c.7500G>A (p.Ala2500=) rs2228072
NM_000540.2(RYR1):c.7527G>A (p.Val2509=) rs2071088
NM_000540.2(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.2(RYR1):c.7614+10C>G rs2960323
NM_000540.2(RYR1):c.7737G>A (p.Val2579=) rs114975624
NM_000540.2(RYR1):c.7835+5A>G rs1469695
NM_000540.2(RYR1):c.7835+7C>T rs114522234
NM_000540.2(RYR1):c.784G>T (p.Glu262Ter) rs1381186128
NM_000540.2(RYR1):c.7863C>T (p.His2621=) rs2229142
NM_000540.2(RYR1):c.7872C>T (p.Arg2624=) rs1469698
NM_000540.2(RYR1):c.7977G>A (p.Thr2659=) rs2229144
NM_000540.2(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826
NM_000540.2(RYR1):c.8068-14C>T rs57376136
NM_000540.2(RYR1):c.8118T>C (p.Ile2706=) rs2960340
NM_000540.2(RYR1):c.8190T>C (p.Asp2730=) rs2915951
NM_000540.2(RYR1):c.831G>C (p.Gln277His) rs34004552
NM_000540.2(RYR1):c.8337G>A (p.Glu2779=) rs2915952
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.8376G>A (p.Arg2792=) rs150388417
NM_000540.2(RYR1):c.8589T>C (p.Ser2863=) rs2229146
NM_000540.2(RYR1):c.8598C>T (p.Thr2866=) rs538250432
NM_000540.2(RYR1):c.8693-10G>C rs2915958
NM_000540.2(RYR1):c.8715G>C (p.Leu2905=) rs368684717
NM_000540.2(RYR1):c.8724C>A (p.Tyr2908Ter) rs797045935
NM_000540.2(RYR1):c.873G>A (p.Ala291=) rs2229140
NM_000540.2(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000540.2(RYR1):c.906C>T (p.Asp302=) rs145943283
NM_000540.2(RYR1):c.9186A>G (p.Pro3062=) rs2071089
NM_000540.2(RYR1):c.94C>T (p.Leu32Phe) rs138630815
NM_000540.2(RYR1):c.9555-13C>T rs2960328
NM_000540.2(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568
NM_000540.2(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379
NM_000540.2(RYR1):c.9690G>A (p.Leu3230=) rs2304151
NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634
NM_000540.2(RYR1):c.9882C>T (p.Ser3294=) rs142610625

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