ClinVar Miner

List of variants in gene RYR2 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 238
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HGVS dbSNP
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=) rs754976419
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=) rs779316628
NM_001035.3(RYR2):c.10227C>G (p.Ser3409=) rs1553294531
NM_001035.3(RYR2):c.10230T>C (p.His3410=) rs370078129
NM_001035.3(RYR2):c.10231-4T>C rs117180147
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.3(RYR2):c.10324-4A>G rs72751287
NM_001035.3(RYR2):c.10381A>G (p.Met3461Val) rs147512481
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=) rs2797441
NM_001035.3(RYR2):c.1053A>G (p.Thr351=) rs187565743
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met) rs552050895
NM_001035.3(RYR2):c.10648A>G (p.Arg3550Gly) rs1553300589
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) rs1401116572
NM_001035.3(RYR2):c.10700G>A (p.Arg3567His) rs577371071
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=) rs2685301
NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys) rs748501600
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882
NM_001035.3(RYR2):c.10973C>G (p.Thr3658Ser) rs766499417
NM_001035.3(RYR2):c.10975A>G (p.Lys3659Glu) rs184527312
NM_001035.3(RYR2):c.11150A>G (p.Lys3717Arg) rs1060500141
NM_001035.3(RYR2):c.11152G>A (p.Glu3718Lys) rs886039201
NM_001035.3(RYR2):c.11208G>C (p.Ala3736=) rs750384592
NM_001035.3(RYR2):c.11217G>A (p.Met3739Ile) rs397516502
NM_001035.3(RYR2):c.11270C>A (p.Ala3757Asp) rs765833382
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621
NM_001035.3(RYR2):c.1135G>A (p.Val379Met) rs199693714
NM_001035.3(RYR2):c.1143C>T (p.Ser381=) rs368844286
NM_001035.3(RYR2):c.11522G>A (p.Arg3841Gln) rs1553317322
NM_001035.3(RYR2):c.11587G>A (p.Gly3863Ser) rs886039194
NM_001035.3(RYR2):c.11605A>G (p.Asn3869Asp) rs886039074
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.11974A>C (p.Asn3992His) rs781352451
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196
NM_001035.3(RYR2):c.12056T>C (p.Met4019Thr) rs886039150
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=) rs368103385
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.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152
NM_001035.3(RYR2):c.12437A>G (p.Glu4146Gly) rs1553322833
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) rs377293019
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=) rs3753631
NM_001035.3(RYR2):c.12648G>A (p.Ala4216=) rs781557399
NM_001035.3(RYR2):c.12685C>T (p.Gln4229Ter) rs1553323067
NM_001035.3(RYR2):c.12700G>A (p.Ala4234Thr) rs773317989
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869
NM_001035.3(RYR2):c.1296C>A (p.Gly432=) rs184176405
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=) rs369917806
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn) rs755585430
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg) rs747584325
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419
NM_001035.3(RYR2):c.13573_13575TCT[1] (p.Ser4526del) rs749495172
NM_001035.3(RYR2):c.1359C>T (p.Ser453=) rs3765097
NM_001035.3(RYR2):c.13617T>G (p.Ser4539Arg) rs1553327067
NM_001035.3(RYR2):c.13635A>T (p.Thr4545=) rs779762647
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512
NM_001035.3(RYR2):c.13672C>T (p.His4558Tyr) rs773264033
NM_001035.3(RYR2):c.13689G>A (p.Glu4563=) rs886039157
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=) rs374606415
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.13984G>A (p.Gly4662Ser) rs886039213
NM_001035.3(RYR2):c.14013C>A (p.Gly4671=) rs1416459319
NM_001035.3(RYR2):c.14014A>G (p.Met4672Val) rs1423265074
NM_001035.3(RYR2):c.14079C>G (p.Ser4693=) rs1553330741
NM_001035.3(RYR2):c.14151+1G>A rs745576995
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=) rs368971586
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln) rs794728802
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601
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.14484G>T (p.Gly4828=) rs370996795
NM_001035.3(RYR2):c.14493C>T (p.Ile4831=) rs375456172
NM_001035.3(RYR2):c.14637A>C (p.Gln4879His) rs1553341953
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001035.3(RYR2):c.1476+4C>T rs369442980
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe) rs727504508
NM_001035.3(RYR2):c.14848G>C (p.Glu4950Gln) rs886039172
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) rs16835270
NM_001035.3(RYR2):c.1527C>T (p.Ser509=) rs886042568
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084
NM_001035.3(RYR2):c.1611G>A (p.Leu537=) rs78281932
NM_001035.3(RYR2):c.1614G>A (p.Ala538=) rs566885717
NM_001035.3(RYR2):c.1665C>T (p.Leu555=) rs371262363
NM_001035.3(RYR2):c.175C>T (p.Pro59Ser) rs1553405121
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.1939C>T (p.Arg647Cys) rs202040519
NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser) rs2009813
NM_001035.3(RYR2):c.198C>G (p.Thr66=) rs1182284048
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.3(RYR2):c.2300C>T (p.Ser767Leu) rs749979131
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu) rs371157868
NM_001035.3(RYR2):c.2454G>A (p.Gly818=) rs769137517
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.3(RYR2):c.2629C>T (p.His877Tyr) rs372575878
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315
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.2935G>T (p.Ala979Ser) rs202015519
NM_001035.3(RYR2):c.295-5T>C rs1553420541
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.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624
NM_001035.3(RYR2):c.3294C>T (p.Ala1098=) rs773622667
NM_001035.3(RYR2):c.32T>C (p.Ile11Thr) rs794728760
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.3(RYR2):c.3372G>A (p.Pro1124=) rs368017980
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) rs750335699
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu) rs794728761
NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser) rs769294223
NM_001035.3(RYR2):c.3834C>T (p.Asp1278=) rs1553514916
NM_001035.3(RYR2):c.383T>C (p.Met128Thr) rs886038887
NM_001035.3(RYR2):c.3849A>G (p.Leu1283=) rs143603583
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253
NM_001035.3(RYR2):c.3894T>G (p.Asp1298Glu) rs1383564773
NM_001035.3(RYR2):c.3910C>T (p.Leu1304=) rs555317545
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=) rs755391572
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=) rs368930040
NM_001035.3(RYR2):c.4444C>T (p.Arg1482Cys) rs564869863
NM_001035.3(RYR2):c.4489G>A (p.Gly1497Arg) rs748678280
NM_001035.3(RYR2):c.4507A>G (p.Asn1503Asp) rs794728736
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
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.4761C>T (p.His1587=) rs369612535
NM_001035.3(RYR2):c.485_489dup (p.Pro164fs) rs1553426652
NM_001035.3(RYR2):c.4902G>A (p.Glu1634=) rs767794262
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr) rs794728739
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=) rs397516537
NM_001035.3(RYR2):c.5011C>T (p.Arg1671Trp) rs747404408
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.5136C>T (p.Ser1712=) rs397516540
NM_001035.3(RYR2):c.5199G>A (p.Thr1733=) rs758505260
NM_001035.3(RYR2):c.5253C>T (p.Ile1751=) rs745565940
NM_001035.3(RYR2):c.527G>T (p.Arg176Leu) rs794728708
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219
NM_001035.3(RYR2):c.5400A>G (p.Lys1800=) rs3820216
NM_001035.3(RYR2):c.5487G>T (p.Leu1829=) rs371250741
NM_001035.3(RYR2):c.5524A>T (p.Ile1842Phe) rs1553522483
NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu) rs568198475
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.5588C>T (p.Thr1863Met) rs770863319
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364
NM_001035.3(RYR2):c.5637T>C (p.Gly1879=) rs751554639
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.5933A>G (p.Asn1978Ser) rs773006920
NM_001035.3(RYR2):c.5977C>T (p.Arg1993Cys) rs767406030
NM_001035.3(RYR2):c.6022+5G>A rs376389213
NM_001035.3(RYR2):c.6250A>G (p.Met2084Val) rs1553531464
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser) rs777365708
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.3(RYR2):c.640G>A (p.Val214Met) rs1036926941
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.3(RYR2):c.6530A>T (p.Asn2177Ile) rs1553534276
NM_001035.3(RYR2):c.6531C>G (p.Asn2177Lys) rs757298566
NM_001035.3(RYR2):c.6780G>A (p.Pro2260=) rs758855412
NM_001035.3(RYR2):c.6811G>A (p.Gly2271Ser) rs375371340
NM_001035.3(RYR2):c.6906T>C (p.Leu2302=) rs707189
NM_001035.3(RYR2):c.6928+4G>A rs79862521
NM_001035.3(RYR2):c.7015G>A (p.Gly2339Ser) rs900562086
NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg) rs1553263907
NM_001035.3(RYR2):c.7099G>A (p.Gly2367Arg) rs369152386
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001035.3(RYR2):c.7233C>T (p.Ala2411=) rs367994477
NM_001035.3(RYR2):c.726C>T (p.Asp242=) rs76380341
NM_001035.3(RYR2):c.727G>A (p.Glu243Lys) rs794728712
NM_001035.3(RYR2):c.7314C>T (p.Ile2438=) rs374418643
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met) rs377136047
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=) rs759314800
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) rs371088367
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499
NM_001035.3(RYR2):c.7806C>T (p.His2602=) rs684923
NM_001035.3(RYR2):c.7868T>C (p.Leu2623Pro) rs1553269568
NM_001035.3(RYR2):c.7925G>A (p.Arg2642Lys) rs377473366
NM_001035.3(RYR2):c.8028G>A (p.Leu2676=) rs775159757
NM_001035.3(RYR2):c.8131A>G (p.Ile2711Val) rs1465720686
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu) rs377368967
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134
NM_001035.3(RYR2):c.8209-3A>G rs376788358
NM_001035.3(RYR2):c.8209-4T>C rs371966353
NM_001035.3(RYR2):c.8262G>T (p.Gln2754His) rs773748242
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819
NM_001035.3(RYR2):c.8367T>C (p.Ile2789=) rs563219502
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996
NM_001035.3(RYR2):c.8590+4A>G rs778964264
NM_001035.3(RYR2):c.8631G>A (p.Leu2877=) rs1060503848
NM_001035.3(RYR2):c.8731G>A (p.Glu2911Lys) rs1553277510
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813
NM_001035.3(RYR2):c.8899G>A (p.Val2967Ile) rs751546090
NM_001035.3(RYR2):c.9128+5del rs1553289116
NM_001035.3(RYR2):c.9251G>A (p.Arg3084Gln) rs747605864
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9450-3T>C rs188671846
NM_001035.3(RYR2):c.950T>C (p.Met317Thr) rs367601258
NM_001035.3(RYR2):c.9518C>T (p.Thr3173Ile) rs746161154
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=) rs116442127
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=) rs370740528
NM_001035.3(RYR2):c.9673G>A (p.Gly3225Ser) rs780484631
NM_001035.3(RYR2):c.9698A>G (p.His3233Arg) rs1386204884
NM_001035.3(RYR2):c.9721A>G (p.Met3241Val) rs1408171604
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys) rs1290534109
NM_001035.3(RYR2):c.9750G>T (p.Trp3250Cys) rs775355706
NM_001035.3(RYR2):c.9942C>G (p.Leu3314=) rs746973997
NM_001035.3(RYR2):c.9996G>A (p.Thr3332=) rs760131228

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