ClinVar Miner

List of variants in gene RYR2 reported as likely benign for Catecholaminergic polymorphic ventricular tachycardia

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Gene type:
ClinVar version:
Total variants: 269
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HGVS dbSNP
NM_001035.2(RYR2):c.11092-8delA rs752640368
NM_001035.2(RYR2):c.11880+12_11880+15delAACT rs773240729
NM_001035.2(RYR2):c.13782+10_13782+13delTAAG rs775418111
NM_001035.2(RYR2):c.309+9_309+13delTCTTA rs779631412
NM_001035.2(RYR2):c.8437-7dupG rs148246251
NM_001035.3(RYR2):c.*1140A>G rs12594
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.*328C>T rs76286925
NM_001035.3(RYR2):c.*56C>A rs74703306
NM_001035.3(RYR2):c.*646del rs377407067
NM_001035.3(RYR2):c.*647C>T rs16835894
NM_001035.3(RYR2):c.*714C>G rs12406863
NM_001035.3(RYR2):c.*787C>A rs143228973
NM_001035.3(RYR2):c.*890_*893dup rs10667874
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.10035G>A (p.Arg3345=) rs754976419
NM_001035.3(RYR2):c.10161G>A (p.Glu3387=) rs1391492847
NM_001035.3(RYR2):c.10191C>A (p.Arg3397=) rs1029985619
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala) rs565413020
NM_001035.3(RYR2):c.10231-4T>C rs117180147
NM_001035.3(RYR2):c.10257C>T (p.Phe3419=) rs748715725
NM_001035.3(RYR2):c.10381A>G (p.Met3461Val) rs147512481
NM_001035.3(RYR2):c.10389C>T (p.Thr3463=) rs878854151
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.10555-4G>A rs1309517155
NM_001035.3(RYR2):c.10704G>A (p.Val3568=) rs1000043466
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=) rs2685301
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882
NM_001035.3(RYR2):c.11039+7T>C rs569571855
NM_001035.3(RYR2):c.11092-10A>T rs577119352
NM_001035.3(RYR2):c.11092-6A>T rs397516501
NM_001035.3(RYR2):c.11196C>T (p.His3732=) rs774786081
NM_001035.3(RYR2):c.1135G>A (p.Val379Met) rs199693714
NM_001035.3(RYR2):c.11403-10G>T rs1226426842
NM_001035.3(RYR2):c.11418T>C (p.Asn3806=) rs889979768
NM_001035.3(RYR2):c.11476+10A>C rs794728702
NM_001035.3(RYR2):c.11476+15C>T rs192323827
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=) rs397516505
NM_001035.3(RYR2):c.11622T>G (p.Thr3874=) rs1258139963
NM_001035.3(RYR2):c.11647-5C>T rs1470967404
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.11962+10A>T rs1060503854
NM_001035.3(RYR2):c.11963-11T>C rs790889
NM_001035.3(RYR2):c.11982G>A (p.Thr3994=) rs368634803
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.12084G>A (p.Ser4028=) rs751821960
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346
NM_001035.3(RYR2):c.12273G>A (p.Ala4091=) rs966083978
NM_001035.3(RYR2):c.12397C>T (p.Leu4133=) rs1553322794
NM_001035.3(RYR2):c.1243A>G (p.Thr415Ala) rs545357663
NM_001035.3(RYR2):c.12471A>G (p.Arg4157=) rs751897207
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) rs377293019
NM_001035.3(RYR2):c.12549A>G (p.Lys4183=) rs760519665
NM_001035.3(RYR2):c.12648G>A (p.Ala4216=) rs781557399
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.3(RYR2):c.12939G>C (p.Leu4313=) rs893697261
NM_001035.3(RYR2):c.12957C>T (p.Val4319=) rs727504438
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=) rs369917806
NM_001035.3(RYR2):c.13167A>G (p.Gly4389=) rs878854152
NM_001035.3(RYR2):c.13260+14A>G rs141528541
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=) rs183933829
NM_001035.3(RYR2):c.13449A>G (p.Lys4483=) rs1008224442
NM_001035.3(RYR2):c.1359C>T (p.Ser453=) rs3765097
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=) rs375213838
NM_001035.3(RYR2):c.13672C>T (p.His4558Tyr) rs773264033
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664
NM_001035.3(RYR2):c.13782+9G>C rs1553327181
NM_001035.3(RYR2):c.13783-6A>C rs790901
NM_001035.3(RYR2):c.13783-6A>G rs790901
NM_001035.3(RYR2):c.13789T>C (p.Leu4597=) rs1253011897
NM_001035.3(RYR2):c.13830G>A (p.Leu4610=) rs1311002036
NM_001035.3(RYR2):c.13860G>A (p.Gln4620=) rs751521335
NM_001035.3(RYR2):c.1389C>T (p.Phe463=) rs781378149
NM_001035.3(RYR2):c.13913+12A>C rs790900
NM_001035.3(RYR2):c.1395C>A (p.Pro465=) rs111990043
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.1404G>A (p.Glu468=) rs768538183
NM_001035.3(RYR2):c.14091-10G>T rs199569629
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=) rs368971586
NM_001035.3(RYR2):c.14299-12A>G rs41267519
NM_001035.3(RYR2):c.14406A>G (p.Pro4802=) rs767234031
NM_001035.3(RYR2):c.14409T>C (p.Asp4803=) rs878891404
NM_001035.3(RYR2):c.14415A>G (p.Lys4805=) rs397516515
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14527C>A (p.Arg4843=) rs1553339074
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633
NM_001035.3(RYR2):c.14730A>G (p.Leu4910=) rs1553342510
NM_001035.3(RYR2):c.14756+12C>T rs2275693
NM_001035.3(RYR2):c.14808+3A>G rs377491955
NM_001035.3(RYR2):c.14809-15C>G rs790897
NM_001035.3(RYR2):c.14844T>C (p.Cys4948=) rs540984275
NM_001035.3(RYR2):c.1518C>T (p.His506=) rs372620246
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) rs16835270
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.1612+14T>C rs2045955
NM_001035.3(RYR2):c.1613-4G>C rs1553462847
NM_001035.3(RYR2):c.1647T>C (p.Ala549=) rs1553462870
NM_001035.3(RYR2):c.1665C>T (p.Leu555=) rs371262363
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718
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.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.2396+10T>C rs745329806
NM_001035.3(RYR2):c.2397-6C>T rs78165942
NM_001035.3(RYR2):c.2410C>T (p.Leu804Phe) rs577451406
NM_001035.3(RYR2):c.2551C>T (p.Leu851=) rs1487401743
NM_001035.3(RYR2):c.2562A>G (p.Thr854=) rs727503398
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.3(RYR2):c.2772G>A (p.Leu924=) rs780664060
NM_001035.3(RYR2):c.2808G>T (p.Ser936=) rs1057521205
NM_001035.3(RYR2):c.2922T>C (p.Ser974=) rs750392459
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519
NM_001035.3(RYR2):c.295-8C>T rs764545272
NM_001035.3(RYR2):c.2973A>G (p.Ser991=) rs2253273
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=) rs566157997
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129
NM_001035.3(RYR2):c.3057C>A (p.Gly1019=) rs1343531428
NM_001035.3(RYR2):c.3093C>T (p.Arg1031=) rs775738392
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=) rs747358776
NM_001035.3(RYR2):c.3214+7T>G rs748941127
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=) rs727505215
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala) rs202176504
NM_001035.3(RYR2):c.3321G>A (p.Thr1107=) rs377716608
NM_001035.3(RYR2):c.336A>G (p.Thr112=) rs536426427
NM_001035.3(RYR2):c.3372G>A (p.Pro1124=) rs368017980
NM_001035.3(RYR2):c.3423+6T>G rs1057521957
NM_001035.3(RYR2):c.375T>C (p.Tyr125=) rs397516528
NM_001035.3(RYR2):c.3808-10C>T rs779454549
NM_001035.3(RYR2):c.3921G>A (p.Pro1307=) rs201469656
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.408C>T (p.Ser136=) rs1553425562
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115
NM_001035.3(RYR2):c.40C>T (p.Leu14=) rs878854156
NM_001035.3(RYR2):c.4143C>T (p.Pro1381=) rs762991553
NM_001035.3(RYR2):c.4160+7A>G rs377465289
NM_001035.3(RYR2):c.4191C>T (p.Tyr1397=) rs753181426
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512
NM_001035.3(RYR2):c.4209A>G (p.Ala1403=) rs727505126
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326
NM_001035.3(RYR2):c.463+6dup rs397516534
NM_001035.3(RYR2):c.464-8A>C rs10925391
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001035.3(RYR2):c.4683+7A>T rs757658900
NM_001035.3(RYR2):c.4684-11C>T rs7546045
NM_001035.3(RYR2):c.4684-5G>C rs7522981
NM_001035.3(RYR2):c.4684-6C>T rs755712032
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945
NM_001035.3(RYR2):c.48+7G>T rs886567477
NM_001035.3(RYR2):c.4800C>T (p.Pro1600=) rs546340378
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=) rs1060503853
NM_001035.3(RYR2):c.49-4G>A rs750038523
NM_001035.3(RYR2):c.4917T>C (p.Val1639=) rs1060503850
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=) rs147060179
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=) rs397516537
NM_001035.3(RYR2):c.510A>C (p.Ser170=) rs1057523213
NM_001035.3(RYR2):c.5127C>A (p.Ile1709=) rs1553522097
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.5199G>A (p.Thr1733=) rs758505260
NM_001035.3(RYR2):c.5400A>G (p.Lys1800=) rs3820216
NM_001035.3(RYR2):c.5508C>T (p.Asn1836=) rs777640285
NM_001035.3(RYR2):c.5574G>A (p.Glu1858=) rs752393757
NM_001035.3(RYR2):c.5595G>A (p.Glu1865=) rs1054011849
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.5658C>A (p.Gly1886=) rs745731983
NM_001035.3(RYR2):c.5664G>C (p.Arg1888=) rs758277755
NM_001035.3(RYR2):c.5721C>T (p.Cys1907=) rs769877200
NM_001035.3(RYR2):c.576+7G>C rs10925392
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=) rs886046270
NM_001035.3(RYR2):c.5874A>C (p.Thr1958=) rs746302767
NM_001035.3(RYR2):c.5901A>C (p.Ser1967=) rs1553524372
NM_001035.3(RYR2):c.6042T>C (p.Asp2014=) rs376907409
NM_001035.3(RYR2):c.6096G>C (p.Leu2032=) rs1482965096
NM_001035.3(RYR2):c.6150T>C (p.Ser2050=) rs371310419
NM_001035.3(RYR2):c.6279C>T (p.Asp2093=) rs771328006
NM_001035.3(RYR2):c.6321G>A (p.Thr2107=) rs764476121
NM_001035.3(RYR2):c.639C>T (p.Ser213=) rs375180398
NM_001035.3(RYR2):c.6441-8C>G rs770177812
NM_001035.3(RYR2):c.6534C>T (p.Val2178=) rs904724019
NM_001035.3(RYR2):c.6555+6G>A rs372661934
NM_001035.3(RYR2):c.6627G>A (p.Gln2209=) rs373686520
NM_001035.3(RYR2):c.6726G>A (p.Val2242=) rs767246962
NM_001035.3(RYR2):c.677-11T>A rs10754602
NM_001035.3(RYR2):c.677-7C>G rs747407654
NM_001035.3(RYR2):c.6780G>C (p.Pro2260=) rs758855412
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.6907A>C (p.Arg2303=) rs1185651821
NM_001035.3(RYR2):c.6928+4G>A rs79862521
NM_001035.3(RYR2):c.6957C>T (p.Val2319=) rs768367111
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686
NM_001035.3(RYR2):c.7062C>T (p.Ala2354=) rs182038403
NM_001035.3(RYR2):c.7065G>A (p.Glu2355=) rs1294243113
NM_001035.3(RYR2):c.7083T>C (p.Gly2361=) rs749474378
NM_001035.3(RYR2):c.7115+10A>G rs1553264024
NM_001035.3(RYR2):c.711G>C (p.Leu237=) rs759018901
NM_001035.3(RYR2):c.714T>C (p.His238=) rs376541511
NM_001035.3(RYR2):c.7155G>C (p.Gly2385=) rs794728752
NM_001035.3(RYR2):c.7236G>A (p.Gly2412=) rs1553265780
NM_001035.3(RYR2):c.7314C>A (p.Ile2438=) rs374418643
NM_001035.3(RYR2):c.7359A>G (p.Glu2453=) rs779456443
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416
NM_001035.3(RYR2):c.7377G>A (p.Gly2459=) rs747614796
NM_001035.3(RYR2):c.7383C>T (p.Cys2461=) rs373881578
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=) rs759314800
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555
NM_001035.3(RYR2):c.7513-8T>G rs727503402
NM_001035.3(RYR2):c.7569C>T (p.Ala2523=) rs748943528
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499
NM_001035.3(RYR2):c.7623C>T (p.His2541=) rs753435083
NM_001035.3(RYR2):c.7689A>G (p.Lys2563=) rs201082550
NM_001035.3(RYR2):c.7806C>T (p.His2602=) rs684923
NM_001035.3(RYR2):c.7925G>A (p.Arg2642Lys) rs377473366
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134
NM_001035.3(RYR2):c.8209-7_8209-4del rs876657992
NM_001035.3(RYR2):c.8247C>T (p.Asp2749=) rs878854161
NM_001035.3(RYR2):c.8287T>C (p.Leu2763=) rs1057520868
NM_001035.3(RYR2):c.8322A>C (p.Pro2774=) rs1553272172
NM_001035.3(RYR2):c.8325C>T (p.Ile2775=) rs1474322992
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.848+8G>C rs373075790
NM_001035.3(RYR2):c.849-8T>C rs16835237
NM_001035.3(RYR2):c.8493T>C (p.Val2831=) rs755660659
NM_001035.3(RYR2):c.8631G>A (p.Leu2877=) rs1060503848
NM_001035.3(RYR2):c.8643G>A (p.Glu2881=) rs749903392
NM_001035.3(RYR2):c.8652G>A (p.Lys2884=) rs758284122
NM_001035.3(RYR2):c.8734C>T (p.Leu2912=) rs772605413
NM_001035.3(RYR2):c.8805A>G (p.Glu2935=) rs915071961
NM_001035.3(RYR2):c.882A>G (p.Pro294=) rs1553446366
NM_001035.3(RYR2):c.8831-9A>C rs187977513
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813
NM_001035.3(RYR2):c.8896-9T>C rs773401697
NM_001035.3(RYR2):c.9021A>G (p.Leu3007=) rs748115355
NM_001035.3(RYR2):c.9067+10C>T rs372631657
NM_001035.3(RYR2):c.9129-7T>C rs1466669135
NM_001035.3(RYR2):c.9129-9A>G rs992812963
NM_001035.3(RYR2):c.9156T>C (p.Ser3052=) rs760836447
NM_001035.3(RYR2):c.9213C>T (p.Thr3071=) rs759125855
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=) rs774657844
NM_001035.3(RYR2):c.9449+8T>A rs60777199
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219
NM_001035.3(RYR2):c.9580+9G>A rs767679867
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=) rs370740528
NM_001035.3(RYR2):c.9759A>C (p.Gly3253=) rs1553293285
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=) rs190537182
NM_001035.3(RYR2):c.9901+9T>A rs1553293394
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=) rs199730192
NM_001035.3(RYR2):c.9996G>A (p.Thr3332=) rs760131228

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