ClinVar Miner

List of variants in gene RYR2 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP
NM_001035.2(RYR2):c.10323+13dupA rs886046276
NM_001035.2(RYR2):c.8437-7dupG rs148246251
NM_001035.3(RYR2):c.*1023G>T rs886046304
NM_001035.3(RYR2):c.*1065A>G rs886046305
NM_001035.3(RYR2):c.*1070G>T rs886046306
NM_001035.3(RYR2):c.*107G>A rs867864296
NM_001035.3(RYR2):c.*1108A>G rs540171235
NM_001035.3(RYR2):c.*1140A>G rs12594
NM_001035.3(RYR2):c.*1152G>A rs551419848
NM_001035.3(RYR2):c.*1160A>G rs114925843
NM_001035.3(RYR2):c.*129C>G rs16835891
NM_001035.3(RYR2):c.*1307C>T rs16835904
NM_001035.3(RYR2):c.*130G>A rs12725752
NM_001035.3(RYR2):c.*1329C>G rs749767730
NM_001035.3(RYR2):c.*167_*168dup rs886046284
NM_001035.3(RYR2):c.*187C>A rs886046285
NM_001035.3(RYR2):c.*206C>A rs886046286
NM_001035.3(RYR2):c.*272C>A rs886046287
NM_001035.3(RYR2):c.*299C>G rs886046288
NM_001035.3(RYR2):c.*328C>T rs76286925
NM_001035.3(RYR2):c.*338C>T rs879161531
NM_001035.3(RYR2):c.*354A>G rs886046289
NM_001035.3(RYR2):c.*378C>A rs886046290
NM_001035.3(RYR2):c.*379T>G rs886046291
NM_001035.3(RYR2):c.*509A>G rs565288028
NM_001035.3(RYR2):c.*566G>T rs886046293
NM_001035.3(RYR2):c.*56C>A rs74703306
NM_001035.3(RYR2):c.*578del rs113047070
NM_001035.3(RYR2):c.*578dup rs113047070
NM_001035.3(RYR2):c.*642A>C rs886046297
NM_001035.3(RYR2):c.*646del rs377407067
NM_001035.3(RYR2):c.*646dup rs377407067
NM_001035.3(RYR2):c.*647C>T rs16835894
NM_001035.3(RYR2):c.*711C>G rs544493822
NM_001035.3(RYR2):c.*712C>G rs886046300
NM_001035.3(RYR2):c.*713C>G rs886046301
NM_001035.3(RYR2):c.*714C>G rs12406863
NM_001035.3(RYR2):c.*715_*716insGC rs886046302
NM_001035.3(RYR2):c.*716del rs397983403
NM_001035.3(RYR2):c.*716dup rs397983403
NM_001035.3(RYR2):c.*717G>C rs867345276
NM_001035.3(RYR2):c.*717_*722GCCCCC[1] rs886046299
NM_001035.3(RYR2):c.*787C>A rs143228973
NM_001035.3(RYR2):c.*79C>A rs886046282
NM_001035.3(RYR2):c.*84del rs764277833
NM_001035.3(RYR2):c.*869G>A rs886046303
NM_001035.3(RYR2):c.*890_*893dup rs10667874
NM_001035.3(RYR2):c.*946C>T rs762908336
NM_001035.3(RYR2):c.-20C>A rs778527185
NM_001035.3(RYR2):c.-27C>A rs886046260
NM_001035.3(RYR2):c.-63G>T rs578020342
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=) rs753175584
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588
NM_001035.3(RYR2):c.1006-12C>T rs367998175
NM_001035.3(RYR2):c.10231-4T>C rs117180147
NM_001035.3(RYR2):c.10231-5C>T rs186326951
NM_001035.3(RYR2):c.10495-14A>G rs727505057
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=) rs2797441
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln) rs748805290
NM_001035.3(RYR2):c.1053A>G (p.Thr351=) rs187565743
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=) rs2685301
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp) rs547005691
NM_001035.3(RYR2):c.11039+7T>C rs569571855
NM_001035.3(RYR2):c.11092-10A>T rs577119352
NM_001035.3(RYR2):c.11146-6G>A rs886046277
NM_001035.3(RYR2):c.11476+15C>T rs192323827
NM_001035.3(RYR2):c.11557+14C>T rs374155447
NM_001035.3(RYR2):c.11557+15G>A rs761490797
NM_001035.3(RYR2):c.11754C>A (p.Asn3918Lys) rs886046278
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=) rs774625105
NM_001035.3(RYR2):c.11835C>T (p.Val3945=) rs78939657
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036
NM_001035.3(RYR2):c.11963-11T>C rs790889
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=) rs763374929
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr) rs375021201
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu) rs779666612
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=) rs184625125
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=) rs748716535
NM_001035.3(RYR2):c.12404G>A (p.Arg4135His) rs764202302
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp) rs371680410
NM_001035.3(RYR2):c.13260+14A>G rs141528541
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=) rs886046279
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=) rs548313130
NM_001035.3(RYR2):c.1359C>T (p.Ser453=) rs3765097
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=) rs375213838
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His) rs371157286
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664
NM_001035.3(RYR2):c.13783-6A>G rs790901
NM_001035.3(RYR2):c.13913+12A>C rs790900
NM_001035.3(RYR2):c.13957-5C>G rs189772599
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780
NM_001035.3(RYR2):c.1404G>A (p.Glu468=) rs768538183
NM_001035.3(RYR2):c.14299-12A>G rs41267519
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601
NM_001035.3(RYR2):c.1444C>T (p.Leu482=) rs117903753
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14692T>A (p.Phe4898Ile) rs886046280
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633
NM_001035.3(RYR2):c.14756+12C>T rs2275693
NM_001035.3(RYR2):c.14808+12A>C rs886046281
NM_001035.3(RYR2):c.14809-15C>G rs790897
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) rs16835270
NM_001035.3(RYR2):c.1611G>A (p.Leu537=) rs78281932
NM_001035.3(RYR2):c.1612+10A>G rs886046262
NM_001035.3(RYR2):c.1612+13A>G rs368200572
NM_001035.3(RYR2):c.1612+14T>C rs2045955
NM_001035.3(RYR2):c.1712T>A (p.Ile571Asn) rs886046263
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys) rs748762074
NM_001035.3(RYR2):c.2204-10C>A rs886046264
NM_001035.3(RYR2):c.2204-7C>G rs147479514
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730
NM_001035.3(RYR2):c.2397-6C>T rs78165942
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.3(RYR2):c.2643A>C (p.Ile881=) rs751869107
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.3(RYR2):c.2772G>A (p.Leu924=) rs780664060
NM_001035.3(RYR2):c.2973A>G (p.Ser991=) rs2253273
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=) rs747358776
NM_001035.3(RYR2):c.3181G>A (p.Gly1061Ser) rs747447414
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser) rs886046265
NM_001035.3(RYR2):c.3496G>A (p.Val1166Ile) rs886046266
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526
NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu) rs769384124
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=) rs755391572
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512
NM_001035.3(RYR2):c.4250A>G (p.Tyr1417Cys) rs777557037
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326
NM_001035.3(RYR2):c.464-8A>C rs10925391
NM_001035.3(RYR2):c.4684-11C>T rs7546045
NM_001035.3(RYR2):c.4684-5G>C rs7522981
NM_001035.3(RYR2):c.4695T>C (p.Pro1565=) rs368826662
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945
NM_001035.3(RYR2):c.4920C>A (p.Asp1640Glu) rs886046267
NM_001035.3(RYR2):c.4941G>A (p.Gln1647=) rs727504997
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=) rs147060179
NM_001035.3(RYR2):c.5078A>G (p.Tyr1693Cys) rs886046268
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.5220T>G (p.Pro1740=) rs886046269
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=) rs765283048
NM_001035.3(RYR2):c.5400A>G (p.Lys1800=) rs3820216
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=) rs371934582
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln) rs869025511
NM_001035.3(RYR2):c.576+7G>C rs10925392
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=) rs886046270
NM_001035.3(RYR2):c.577-14G>A rs148019277
NM_001035.3(RYR2):c.595G>A (p.Gly199Ser) rs886046261
NM_001035.3(RYR2):c.6216G>A (p.Glu2072=) rs886046271
NM_001035.3(RYR2):c.625C>G (p.Gln209Glu) rs749414350
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser) rs777365708
NM_001035.3(RYR2):c.6555+6G>A rs372661934
NM_001035.3(RYR2):c.6689-12T>C rs370972311
NM_001035.3(RYR2):c.6689-3T>A rs886046272
NM_001035.3(RYR2):c.677-11T>A rs10754602
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417
NM_001035.3(RYR2):c.6906T>C (p.Leu2302=) rs707189
NM_001035.3(RYR2):c.6928+4G>A rs79862521
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416
NM_001035.3(RYR2):c.7477C>G (p.Leu2493Val) rs886046273
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) rs371088367
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=) rs886046274
NM_001035.3(RYR2):c.7806C>T (p.His2602=) rs684923
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819
NM_001035.3(RYR2):c.837G>A (p.Thr279=) rs769682840
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996
NM_001035.3(RYR2):c.849-10T>C rs771173251
NM_001035.3(RYR2):c.849-8T>C rs16835237
NM_001035.3(RYR2):c.8493T>C (p.Val2831=) rs755660659
NM_001035.3(RYR2):c.8508C>T (p.Asp2836=) rs757197730
NM_001035.3(RYR2):c.8515-7A>G rs766622060
NM_001035.3(RYR2):c.8759G>T (p.Arg2920Leu) rs756302327
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825
NM_001035.3(RYR2):c.9067+10C>T rs372631657
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val) rs370141970
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9338G>A (p.Gly3113Asp) rs770278770
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=) rs774657844
NM_001035.3(RYR2):c.9449+8T>A rs60777199
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met) rs762549821
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=) rs116442127
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg) rs760379293
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr) rs201669522
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=) rs190537182
NM_001035.3(RYR2):c.9877G>A (p.Gly3293Arg) rs886046275
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=) rs184937795
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met) rs774437805

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