ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 438
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00207
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911 0.00113
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr) rs138156449 0.00080
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val) rs146361173 0.00061
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_000540.3(RYR1):c.9555-7C>G rs376790946 0.00061
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu) rs139069946 0.00051
NM_000540.3(RYR1):c.12203A>G (p.Lys4068Arg) rs114009747 0.00043
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln) rs146793133 0.00042
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe) rs143445685 0.00042
NM_000540.3(RYR1):c.12842G>A (p.Gly4281Glu) rs754173025 0.00039
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp) rs995399684 0.00035
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly) rs149984626 0.00031
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met) rs138325444 0.00031
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=) rs200780880 0.00029
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys) rs547608972 0.00026
NM_000540.3(RYR1):c.7102C>G (p.Leu2368Val) rs139498212 0.00026
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala) rs149455643 0.00023
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_000540.3(RYR1):c.548C>T (p.Thr183Ile) rs150038701 0.00022
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg) rs147918857 0.00019
NM_000540.3(RYR1):c.2933C>T (p.Pro978Leu) rs200124278 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_000540.3(RYR1):c.9886C>G (p.Leu3296Val) rs368433841 0.00019
NM_000540.3(RYR1):c.9896G>T (p.Gly3299Val) rs376790408 0.00019
NM_000540.3(RYR1):c.4237G>A (p.Asp1413Asn) rs139142846 0.00016
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met) rs776194441 0.00016
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr) rs146754847 0.00015
NM_000540.3(RYR1):c.305A>G (p.Tyr102Cys) rs760138384 0.00015
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His) rs141942845 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile) rs200797340 0.00014
NM_000540.3(RYR1):c.9634G>A (p.Glu3212Lys) rs185371036 0.00014
NM_000540.3(RYR1):c.11450A>T (p.Asp3817Val) rs372491219 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln) rs147515913 0.00013
NM_000540.3(RYR1):c.6251G>A (p.Arg2084Gln) rs143681974 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495 0.00010
NM_000540.3(RYR1):c.11691T>C (p.Asp3897=) rs201588544 0.00010
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr) rs142474192 0.00010
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn) rs141298868 0.00010
NM_000540.3(RYR1):c.13480G>A (p.Glu4494Lys) rs143849895 0.00009
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu) rs151029675 0.00009
NM_000540.3(RYR1):c.4910C>T (p.Ala1637Val) rs569890286 0.00009
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu) rs199837883 0.00009
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile) rs140616359 0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_000540.3(RYR1):c.12629A>G (p.Lys4210Arg) rs138932463 0.00007
NM_000540.3(RYR1):c.12841G>A (p.Gly4281Arg) rs1131691504 0.00007
NM_000540.3(RYR1):c.14168G>A (p.Arg4723His) rs200766617 0.00007
NM_000540.3(RYR1):c.4489G>A (p.Gly1497Arg) rs367637223 0.00007
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 0.00007
NM_000540.3(RYR1):c.9800C>T (p.Pro3267Leu) rs200375946 0.00007
NM_000540.3(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100 0.00006
NM_000540.3(RYR1):c.10282A>G (p.Asn3428Asp) rs763976533 0.00006
NM_000540.3(RYR1):c.10492C>G (p.Arg3498Gly) rs201358408 0.00006
NM_000540.3(RYR1):c.1172G>A (p.Arg391His) rs769387053 0.00006
NM_000540.3(RYR1):c.14901C>G (p.Asp4967Glu) rs201712715 0.00006
NM_000540.3(RYR1):c.14915C>T (p.Thr4972Ile) rs199866740 0.00006
NM_000540.3(RYR1):c.2594A>T (p.His865Leu) rs371862065 0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.2998G>A (p.Val1000Met) rs138209392 0.00006
NM_000540.3(RYR1):c.3389G>A (p.Arg1130His) rs371498385 0.00006
NM_000540.3(RYR1):c.6208G>A (p.Val2070Met) rs749274175 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000540.3(RYR1):c.9772G>A (p.Glu3258Lys) rs754431075 0.00006
NM_000540.3(RYR1):c.12242C>T (p.Thr4081Met) rs373406011 0.00005
NM_000540.3(RYR1):c.14563G>T (p.Val4855Leu) rs528225943 0.00005
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys) rs187569997 0.00005
NM_000540.3(RYR1):c.2500C>T (p.Arg834Trp) rs140686309 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.3352G>A (p.Glu1118Lys) rs578234912 0.00005
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile) rs201174268 0.00005
NM_000540.3(RYR1):c.4236C>G (p.His1412Gln) rs146206507 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_000540.3(RYR1):c.4346C>T (p.Ala1449Val) rs775455157 0.00005
NM_000540.3(RYR1):c.6910G>A (p.Gly2304Ser) rs377080876 0.00005
NM_000540.3(RYR1):c.767G>A (p.Arg256His) rs772767943 0.00005
NM_000540.3(RYR1):c.7699C>T (p.Pro2567Ser) rs374982449 0.00005
NM_000540.3(RYR1):c.7844G>A (p.Arg2615His) rs145183043 0.00005
NM_000540.3(RYR1):c.8162C>T (p.Ser2721Phe) rs781377124 0.00005
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000540.3(RYR1):c.11778+3G>C rs758215068 0.00004
NM_000540.3(RYR1):c.12210T>G (p.Ile4070Met) rs765758001 0.00004
NM_000540.3(RYR1):c.12823G>A (p.Ala4275Thr) rs761125496 0.00004
NM_000540.3(RYR1):c.12910G>A (p.Ala4304Thr) rs959143903 0.00004
NM_000540.3(RYR1):c.13015G>C (p.Ala4339Pro) rs1064797241 0.00004
NM_000540.3(RYR1):c.13465C>T (p.Pro4489Ser) rs781766697 0.00004
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756 0.00004
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860 0.00004
NM_000540.3(RYR1):c.14449A>G (p.Ile4817Val) rs143988412 0.00004
NM_000540.3(RYR1):c.14468C>T (p.Thr4823Met) rs148540135 0.00004
NM_000540.3(RYR1):c.1735G>A (p.Glu579Lys) rs753907367 0.00004
NM_000540.3(RYR1):c.2456G>A (p.Arg819Gln) rs752831432 0.00004
NM_000540.3(RYR1):c.2920G>A (p.Val974Met) rs748676912 0.00004
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu) rs759317223 0.00004
NM_000540.3(RYR1):c.3208C>T (p.Arg1070Trp) rs368950468 0.00004
NM_000540.3(RYR1):c.3853A>G (p.Met1285Val) rs752075589 0.00004
NM_000540.3(RYR1):c.4213C>A (p.Pro1405Thr) rs376567445 0.00004
NM_000540.3(RYR1):c.4519C>T (p.Arg1507Trp) rs752736122 0.00004
NM_000540.3(RYR1):c.4963C>T (p.Arg1655Cys) rs371777056 0.00004
NM_000540.3(RYR1):c.5671G>A (p.Glu1891Lys) rs990397545 0.00004
NM_000540.3(RYR1):c.6385G>A (p.Asp2129Asn) rs772695891 0.00004
NM_000540.3(RYR1):c.7204C>T (p.Arg2402Trp) rs575780192 0.00004
NM_000540.3(RYR1):c.721C>T (p.Arg241Cys) rs751622747 0.00004
NM_000540.3(RYR1):c.7349C>T (p.Ala2450Val) rs141959437 0.00004
NM_000540.3(RYR1):c.766C>T (p.Arg256Cys) rs747769229 0.00004
NM_000540.3(RYR1):c.9091G>A (p.Ala3031Thr) rs756311466 0.00004
NM_000540.3(RYR1):c.9640A>G (p.Asn3214Asp) rs377541724 0.00004
NM_000540.3(RYR1):c.9967A>G (p.Ile3323Val) rs762667282 0.00004
NM_000540.3(RYR1):c.10259+6C>T rs754022028 0.00003
NM_000540.3(RYR1):c.10262C>T (p.Ala3421Val) rs772280687 0.00003
NM_000540.3(RYR1):c.10493G>A (p.Arg3498His) rs529215921 0.00003
NM_000540.3(RYR1):c.12250C>T (p.Arg4084Cys) rs755879946 0.00003
NM_000540.3(RYR1):c.12407G>A (p.Arg4136His) rs572373150 0.00003
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu) rs867851900 0.00003
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387 0.00003
NM_000540.3(RYR1):c.14314A>G (p.Ile4772Val) rs371953926 0.00003
NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly) rs118192153 0.00003
NM_000540.3(RYR1):c.165+5G>A rs371043203 0.00003
NM_000540.3(RYR1):c.2365C>T (p.Arg789Trp) rs765445445 0.00003
NM_000540.3(RYR1):c.2995C>T (p.Arg999Cys) rs150442096 0.00003
NM_000540.3(RYR1):c.3256C>T (p.Arg1086Cys) rs373618219 0.00003
NM_000540.3(RYR1):c.4003C>T (p.Arg1335Cys) rs767382534 0.00003
NM_000540.3(RYR1):c.4415C>T (p.Thr1472Met) rs1318296270 0.00003
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr) rs118192120 0.00003
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser) rs201834803 0.00003
NM_000540.3(RYR1):c.6838G>T (p.Val2280Phe) rs193922797 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_000540.3(RYR1):c.722G>A (p.Arg241His) rs552007612 0.00003
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln) rs201584482 0.00003
NM_000540.3(RYR1):c.7336G>A (p.Gly2446Ser) rs375148516 0.00003
NM_000540.3(RYR1):c.7598C>T (p.Ala2533Val) rs1085307809 0.00003
NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met) rs575446156 0.00003
NM_000540.3(RYR1):c.9586C>T (p.Arg3196Cys) rs766362010 0.00003
NM_000540.3(RYR1):c.9895G>A (p.Gly3299Ser) rs372203483 0.00003
NM_000540.3(RYR1):c.10139G>A (p.Arg3380His) rs754760055 0.00002
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp) rs538497899 0.00002
NM_000540.3(RYR1):c.10970A>G (p.Tyr3657Cys) rs748470645 0.00002
NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp) rs910313832 0.00002
NM_000540.3(RYR1):c.11443A>T (p.Met3815Leu) rs368909156 0.00002
NM_000540.3(RYR1):c.12355A>T (p.Asn4119Tyr) rs193922848 0.00002
NM_000540.3(RYR1):c.12749T>C (p.Ile4250Thr) rs1316713022 0.00002
NM_000540.3(RYR1):c.13867G>A (p.Asp4623Asn) rs547709829 0.00002
NM_000540.3(RYR1):c.14132C>G (p.Ser4711Cys) rs201147958 0.00002
NM_000540.3(RYR1):c.2107G>A (p.Gly703Ser) rs773211015 0.00002
NM_000540.3(RYR1):c.3994G>A (p.Glu1332Lys) rs896157692 0.00002
NM_000540.3(RYR1):c.4520G>A (p.Arg1507Gln) rs758206000 0.00002
NM_000540.3(RYR1):c.5086G>A (p.Ala1696Thr) rs1179510850 0.00002
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val) rs193922791 0.00002
NM_000540.3(RYR1):c.7027+4A>T rs753538619 0.00002
NM_000540.3(RYR1):c.7853T>C (p.Met2618Thr) rs769326916 0.00002
NM_000540.3(RYR1):c.8093T>C (p.Met2698Thr) rs185021599 0.00002
NM_000540.3(RYR1):c.8212C>T (p.Arg2738Trp) rs772766489 0.00002
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp) rs1057518970 0.00002
NM_000540.3(RYR1):c.8696G>C (p.Gly2899Ala) rs970107177 0.00002
NM_000540.3(RYR1):c.10147G>A (p.Ala3383Thr) rs747790775 0.00001
NM_000540.3(RYR1):c.10154C>T (p.Ala3385Val) rs772566556 0.00001
NM_000540.3(RYR1):c.10307G>A (p.Arg3436Lys) rs574486124 0.00001
NM_000540.3(RYR1):c.10398C>T (p.Asn3466=) rs1335486327 0.00001
NM_000540.3(RYR1):c.10594C>T (p.Leu3532Phe) rs1131691407 0.00001
NM_000540.3(RYR1):c.10651G>A (p.Glu3551Lys) rs753260772 0.00001
NM_000540.3(RYR1):c.10681G>A (p.Gly3561Arg) rs771320029 0.00001
NM_000540.3(RYR1):c.10768G>A (p.Glu3590Lys) rs746611627 0.00001
NM_000540.3(RYR1):c.11582A>G (p.Asp3861Gly) rs1219842381 0.00001
NM_000540.3(RYR1):c.11878G>C (p.Val3960Leu) rs1064796578 0.00001
NM_000540.3(RYR1):c.12121C>T (p.Arg4041Trp) rs144685735 0.00001
NM_000540.3(RYR1):c.1247G>A (p.Ser416Asn) rs1967148373 0.00001
NM_000540.3(RYR1):c.12608A>G (p.Gln4203Arg) rs757438220 0.00001
NM_000540.3(RYR1):c.12951G>A (p.Val4317=) rs957481378 0.00001
NM_000540.3(RYR1):c.13018G>A (p.Val4340Met) rs1186945915 0.00001
NM_000540.3(RYR1):c.13036G>A (p.Ala4346Thr) rs1296263427 0.00001
NM_000540.3(RYR1):c.13122G>A (p.Val4374=) rs797045930 0.00001
NM_000540.3(RYR1):c.13447G>A (p.Val4483Met) rs1374937370 0.00001
NM_000540.3(RYR1):c.13484C>T (p.Pro4495Leu) rs138929547 0.00001
NM_000540.3(RYR1):c.13519G>A (p.Glu4507Lys) rs978180266 0.00001
NM_000540.3(RYR1):c.13885G>A (p.Val4629Met) rs752668333 0.00001
NM_000540.3(RYR1):c.13907G>A (p.Ser4636Asn) rs893897931 0.00001
NM_000540.3(RYR1):c.14129C>T (p.Pro4710Leu) rs370212445 0.00001
NM_000540.3(RYR1):c.1418G>A (p.Arg473His) rs538087438 0.00001
NM_000540.3(RYR1):c.14851G>A (p.Val4951Met) rs1974468078 0.00001
NM_000540.3(RYR1):c.15012C>A (p.His5004Gln) rs1974498761 0.00001
NM_000540.3(RYR1):c.1715A>C (p.Glu572Ala) rs779551357 0.00001
NM_000540.3(RYR1):c.1792G>A (p.Val598Ile) rs930876441 0.00001
NM_000540.3(RYR1):c.1909A>G (p.Ile637Val) rs567084532 0.00001
NM_000540.3(RYR1):c.2672C>T (p.Thr891Ile) rs1283564361 0.00001
NM_000540.3(RYR1):c.2686C>T (p.Arg896Trp) rs371050482 0.00001
NM_000540.3(RYR1):c.2966A>G (p.Glu989Gly) rs760305558 0.00001
NM_000540.3(RYR1):c.3014G>A (p.Ser1005Asn) rs780145264 0.00001
NM_000540.3(RYR1):c.3041C>T (p.Ala1014Val) rs528184462 0.00001
NM_000540.3(RYR1):c.3299G>A (p.Arg1100His) rs755973279 0.00001
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met) rs145088074 0.00001
NM_000540.3(RYR1):c.3315G>T (p.Arg1105Ser) rs1469007491 0.00001
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 0.00001
NM_000540.3(RYR1):c.362C>G (p.Thr121Ser) rs371874847 0.00001
NM_000540.3(RYR1):c.3968G>C (p.Arg1323Pro) rs771230451 0.00001
NM_000540.3(RYR1):c.4259G>A (p.Arg1420His) rs150499158 0.00001
NM_000540.3(RYR1):c.4293G>A (p.Thr1431=) rs727504130 0.00001
NM_000540.3(RYR1):c.4406G>A (p.Arg1469Gln) rs1346919204 0.00001
NM_000540.3(RYR1):c.4718C>T (p.Pro1573Leu) rs774364705 0.00001
NM_000540.3(RYR1):c.4816C>T (p.Arg1606Cys) rs774316371 0.00001
NM_000540.3(RYR1):c.4879G>A (p.Val1627Met) rs568486136 0.00001
NM_000540.3(RYR1):c.4927G>A (p.Glu1643Lys) rs1197255639 0.00001
NM_000540.3(RYR1):c.4978C>G (p.Arg1660Gly) rs1131691406 0.00001
NM_000540.3(RYR1):c.5273C>T (p.Pro1758Leu) rs371317448 0.00001
NM_000540.3(RYR1):c.529C>T (p.Arg177Cys) rs193922757 0.00001
NM_000540.3(RYR1):c.5338C>G (p.Pro1780Ala) rs1417223289 0.00001
NM_000540.3(RYR1):c.5533G>A (p.Val1845Met) rs926669024 0.00001
NM_000540.3(RYR1):c.5596A>G (p.Ile1866Val) rs1184784202 0.00001
NM_000540.3(RYR1):c.5746G>C (p.Gly1916Arg) rs746965897 0.00001
NM_000540.3(RYR1):c.5815-16G>A rs1064796679 0.00001
NM_000540.3(RYR1):c.5860C>T (p.Arg1954Cys) rs1354061498 0.00001
NM_000540.3(RYR1):c.5926C>T (p.Arg1976Cys) rs747644094 0.00001
NM_000540.3(RYR1):c.5942T>G (p.Ile1981Arg) rs1057524609 0.00001
NM_000540.3(RYR1):c.5980C>T (p.Arg1994Cys) rs369167120 0.00001
NM_000540.3(RYR1):c.6016-5C>G rs369996114 0.00001
NM_000540.3(RYR1):c.6301A>G (p.Met2101Val) rs531823936 0.00001
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His) rs530885842 0.00001
NM_000540.3(RYR1):c.6416C>T (p.Pro2139Leu) rs1040827017 0.00001
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met) rs776830747 0.00001
NM_000540.3(RYR1):c.6554T>C (p.Ile2185Thr) rs1186616874 0.00001
NM_000540.3(RYR1):c.6742C>T (p.Arg2248Cys) rs763352221 0.00001
NM_000540.3(RYR1):c.6891+5G>A rs980283007 0.00001
NM_000540.3(RYR1):c.7021G>A (p.Val2341Ile) rs767615522 0.00001
NM_000540.3(RYR1):c.7028-10G>A rs1005260620 0.00001
NM_000540.3(RYR1):c.7075C>T (p.Arg2359Trp) rs769482889 0.00001
NM_000540.3(RYR1):c.7121C>T (p.Ser2374Leu) rs1131692006 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 0.00001
NM_000540.3(RYR1):c.7202G>A (p.Arg2401Gln) rs370007152 0.00001
NM_000540.3(RYR1):c.737A>G (p.Tyr246Cys) rs923613797 0.00001
NM_000540.3(RYR1):c.7483G>A (p.Val2495Met) rs200291321 0.00001
NM_000540.3(RYR1):c.7926+5G>A rs1555784807 0.00001
NM_000540.3(RYR1):c.880G>A (p.Glu294Lys) rs779597449 0.00001
NM_000540.3(RYR1):c.929C>T (p.Ala310Val) rs966781989 0.00001
NM_000540.3(RYR1):c.9341A>G (p.Lys3114Arg) rs752290068 0.00001
NM_000540.3(RYR1):c.946C>T (p.Arg316Cys) rs752652072 0.00001
NM_000540.3(RYR1):c.9511A>C (p.Ser3171Arg) rs370851939 0.00001
NM_000540.3(RYR1):c.9523C>G (p.Leu3175Val) rs528199298 0.00001
NM_000540.3(RYR1):c.9615C>G (p.Phe3205Leu) rs1223136232 0.00001
NM_000540.3(RYR1):c.9685A>G (p.Ile3229Val) rs1449733977 0.00001
NM_000540.3(RYR1):c.9703A>C (p.Ser3235Arg) rs747488155 0.00001
NM_000540.3(RYR1):c.9826A>G (p.Met3276Val) rs1568528315 0.00001
NM_000540.3(RYR1):c.9848G>A (p.Arg3283Gln) rs757753317 0.00001
NM_000540.2(RYR1):c.958_960delGAG rs1064794313
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu) rs137932199
NM_000540.3(RYR1):c.10196C>T (p.Ser3399Phe) rs1085307803
NM_000540.3(RYR1):c.10256A>G (p.Asn3419Ser) rs1163728546
NM_000540.3(RYR1):c.10306A>G (p.Arg3436Gly)
NM_000540.3(RYR1):c.1035C>G (p.Cys345Trp) rs1170304013
NM_000540.3(RYR1):c.10595T>A (p.Leu3532His)
NM_000540.3(RYR1):c.10825A>G (p.Thr3609Ala)
NM_000540.3(RYR1):c.10850A>C (p.Lys3617Thr) rs968796694
NM_000540.3(RYR1):c.11014C>T (p.Arg3672Cys) rs765145018
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000540.3(RYR1):c.11050G>A (p.Glu3684Lys) rs2145724866
NM_000540.3(RYR1):c.1108G>A (p.Val370Met) rs537344365
NM_000540.3(RYR1):c.11187G>A (p.Met3729Ile)
NM_000540.3(RYR1):c.112G>A (p.Ala38Thr) rs377558801
NM_000540.3(RYR1):c.11303G>A (p.Arg3768Gln)
NM_000540.3(RYR1):c.11455C>T (p.Leu3819Phe)
NM_000540.3(RYR1):c.11573T>A (p.Val3858Glu) rs959531046
NM_000540.3(RYR1):c.11654G>A (p.Arg3885Gln)
NM_000540.3(RYR1):c.11698A>T (p.Asn3900Tyr) rs2145774604
NM_000540.3(RYR1):c.11760C>G (p.Asp3920Glu) rs1568557623
NM_000540.3(RYR1):c.11813G>A (p.Gly3938Asp) rs1972296024
NM_000540.3(RYR1):c.12142G>A (p.Val4048Met)
NM_000540.3(RYR1):c.12142G>T (p.Val4048Leu) rs368835421
NM_000540.3(RYR1):c.12167T>A (p.Met4056Lys) rs2145790453
NM_000540.3(RYR1):c.12188T>C (p.Met4063Thr) rs777285788
NM_000540.3(RYR1):c.12238G>A (p.Val4080Ile) rs1293266518
NM_000540.3(RYR1):c.12275T>C (p.Phe4092Ser) rs2145790895
NM_000540.3(RYR1):c.12443A>C (p.Asn4148Thr) rs1213878810
NM_000540.3(RYR1):c.12449C>T (p.Ser4150Leu) rs143843083
NM_000540.3(RYR1):c.12551G>C (p.Gly4184Ala) rs1555798622
NM_000540.3(RYR1):c.12568_12576del (p.Glu4190_Ile4192del) rs1176364208
NM_000540.3(RYR1):c.12575T>C (p.Ile4192Thr) rs1555798659
NM_000540.3(RYR1):c.12599A>G (p.Asn4200Ser) rs199660276
NM_000540.3(RYR1):c.12635C>G (p.Ser4212Cys) rs1973322467
NM_000540.3(RYR1):c.12683A>C (p.Glu4228Ala)
NM_000540.3(RYR1):c.12779ACGAGG[3] (p.4260DE[3]) rs746833347
NM_000540.3(RYR1):c.12791GCGCGG[3] (p.4264GA[3]) rs776979677
NM_000540.3(RYR1):c.12820G>A (p.Gly4274Ser)
NM_000540.3(RYR1):c.12835_12852dup (p.Ala4279_Gly4284dup) rs1159068582
NM_000540.3(RYR1):c.12947_12958dup (p.Arg4316_Arg4319dup) rs1455190973
NM_000540.3(RYR1):c.12947_12967dup (p.Arg4322_Leu4323insArgValArgArgLeuArgArg)
NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3]) rs193922846
NM_000540.3(RYR1):c.13093G>T (p.Gly4365Cys) rs1973362089
NM_000540.3(RYR1):c.13113C>G (p.Ala4371=) rs1599635569
NM_000540.3(RYR1):c.1312G>C (p.Glu438Gln) rs765668209
NM_000540.3(RYR1):c.13237G>A (p.Gly4413Arg)
NM_000540.3(RYR1):c.13244_13264del (p.Ala4415_Asp4421del) rs763413580
NM_000540.3(RYR1):c.13412C>A (p.Ser4471Tyr) rs1973389067
NM_000540.3(RYR1):c.13565C>G (p.Pro4522Arg) rs145167688
NM_000540.3(RYR1):c.13628G>C (p.Gly4543Ala) rs200002274
NM_000540.3(RYR1):c.13664A>G (p.Tyr4555Cys)
NM_000540.3(RYR1):c.13714T>C (p.Phe4572Leu) rs2145865333
NM_000540.3(RYR1):c.1404_1412del (p.Ser469_Arg471del) rs1555767373
NM_000540.3(RYR1):c.14057G>A (p.Gly4686Asp)
NM_000540.3(RYR1):c.1415A>G (p.Asn472Ser) rs1057518361
NM_000540.3(RYR1):c.14200G>A (p.Gly4734Arg) rs1456212776
NM_000540.3(RYR1):c.14249A>T (p.Glu4750Val) rs1002217883
NM_000540.3(RYR1):c.14304-6C>A rs794728693
NM_000540.3(RYR1):c.14342T>C (p.Phe4781Ser)
NM_000540.3(RYR1):c.14353T>C (p.Phe4785Leu)
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del) rs1555803810
NM_000540.3(RYR1):c.14486C>T (p.Ser4829Phe) rs1268840179
NM_000540.3(RYR1):c.14518A>T (p.Met4840Leu) rs933599635
NM_000540.3(RYR1):c.14616_14621dup (p.Glu4872_Pro4873dup) rs1555804000
NM_000540.3(RYR1):c.14630G>A (p.Cys4877Tyr)
NM_000540.3(RYR1):c.14709G>C (p.Glu4903Asp) rs557624321
NM_000540.3(RYR1):c.14761TTC[5] (p.Phe4924dup) rs1064794572
NM_000540.3(RYR1):c.14766C>G (p.Phe4922Leu) rs1599674487
NM_000540.3(RYR1):c.14783T>A (p.Ile4928Asn)
NM_000540.3(RYR1):c.14792C>A (p.Ala4931Asp) rs546322293
NM_000540.3(RYR1):c.14892C>A (p.Ile4964=) rs2302297
NM_000540.3(RYR1):c.15017G>C (p.Gly5006Ala) rs1555805797
NM_000540.3(RYR1):c.15056G>A (p.Cys5019Tyr) rs2145922036
NM_000540.3(RYR1):c.159C>A (p.Asn53Lys)
NM_000540.3(RYR1):c.166-3dup rs745926203
NM_000540.3(RYR1):c.1720C>G (p.Leu574Val) rs1307522343
NM_000540.3(RYR1):c.1744A>G (p.Ile582Val) rs1131691591
NM_000540.3(RYR1):c.175C>T (p.Pro59Ser) rs1555762521
NM_000540.3(RYR1):c.1801G>T (p.Val601Leu)
NM_000540.3(RYR1):c.1825A>G (p.Asn609Asp) rs1131691719
NM_000540.3(RYR1):c.1861A>G (p.Thr621Ala) rs794728694
NM_000540.3(RYR1):c.1874T>C (p.Leu625Pro) rs1555769513
NM_000540.3(RYR1):c.1936A>C (p.Asn646His) rs1064796780
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp) rs776252106
NM_000540.3(RYR1):c.2168-3dup rs1555770306
NM_000540.3(RYR1):c.2384G>A (p.Arg795His) rs201635585
NM_000540.3(RYR1):c.2411C>T (p.Pro804Leu) rs1057524519
NM_000540.3(RYR1):c.24C>A (p.Asp8Glu) rs1331891798
NM_000540.3(RYR1):c.251C>G (p.Thr84Arg) rs186983396
NM_000540.3(RYR1):c.2590C>T (p.Pro864Ser) rs1131691920
NM_000540.3(RYR1):c.2593C>T (p.His865Tyr)
NM_000540.3(RYR1):c.2682+5G>A rs1967903452
NM_000540.3(RYR1):c.2768T>C (p.Met923Thr) rs2145435079
NM_000540.3(RYR1):c.2782C>T (p.Leu928Phe)
NM_000540.3(RYR1):c.2923C>T (p.Arg975Trp) rs371278145
NM_000540.3(RYR1):c.3056G>C (p.Arg1019Pro)
NM_000540.3(RYR1):c.3094C>G (p.Arg1032Gly) rs374477216
NM_000540.3(RYR1):c.3131C>T (p.Thr1044Ile)
NM_000540.3(RYR1):c.3157G>A (p.Glu1053Lys) rs746198645
NM_000540.3(RYR1):c.330T>A (p.His110Gln) rs2145335735
NM_000540.3(RYR1):c.3311C>G (p.Ala1104Gly) rs149096607
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.3507G>A (p.Met1169Ile)
NM_000540.3(RYR1):c.3550G>A (p.Gly1184Arg) rs1968280304
NM_000540.3(RYR1):c.3562C>A (p.Leu1188Met)
NM_000540.3(RYR1):c.3751C>A (p.His1251Asn) rs943777976
NM_000540.3(RYR1):c.3778G>A (p.Asp1260Asn) rs1064796577
NM_000540.3(RYR1):c.3800C>A (p.Pro1267His) rs150495044
NM_000540.3(RYR1):c.3823A>G (p.Thr1275Ala) rs1568469574
NM_000540.3(RYR1):c.4007G>T (p.Arg1336Leu)
NM_000540.3(RYR1):c.4090G>T (p.Gly1364Trp) rs35869497
NM_000540.3(RYR1):c.4366T>C (p.Tyr1456His) rs2145502626
NM_000540.3(RYR1):c.4376A>G (p.His1459Arg) rs767071972
NM_000540.3(RYR1):c.4451G>A (p.Ser1484Asn) rs2145503148
NM_000540.3(RYR1):c.4462T>C (p.Cys1488Arg) rs763317222
NM_000540.3(RYR1):c.4472G>A (p.Cys1491Tyr)
NM_000540.3(RYR1):c.4535A>T (p.Asp1512Val) rs2145506709
NM_000540.3(RYR1):c.467G>A (p.Arg156Lys) rs193922751
NM_000540.3(RYR1):c.4682T>A (p.Ile1561Asn) rs1057518453
NM_000540.3(RYR1):c.4717C>T (p.Pro1573Ser) rs1131691497
NM_000540.3(RYR1):c.4759G>C (p.Ala1587Pro)
NM_000540.3(RYR1):c.4792A>G (p.Met1598Val) rs2145529267
NM_000540.3(RYR1):c.4864C>T (p.Arg1622Trp) rs756481315
NM_000540.3(RYR1):c.5132A>C (p.Tyr1711Ser) rs754785770
NM_000540.3(RYR1):c.5196A>T (p.Glu1732Asp) rs2145543462
NM_000540.3(RYR1):c.5271C>A (p.His1757Gln)
NM_000540.3(RYR1):c.5339C>G (p.Pro1780Arg) rs369480385
NM_000540.3(RYR1):c.5540C>A (p.Thr1847Asn) rs1456354042
NM_000540.3(RYR1):c.5638G>C (p.Glu1880Gln) rs777733662
NM_000540.3(RYR1):c.5821C>T (p.His1941Tyr)
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.3(RYR1):c.6037A>C (p.Lys2013Gln) rs2145564171
NM_000540.3(RYR1):c.6203A>G (p.Glu2068Gly)
NM_000540.3(RYR1):c.6421G>T (p.Ala2141Ser) rs1064796405
NM_000540.3(RYR1):c.6675C>G (p.Phe2225Leu)
NM_000540.3(RYR1):c.6719G>T (p.Cys2240Phe) rs2145586442
NM_000540.3(RYR1):c.6796G>T (p.Gly2266Cys) rs772803714
NM_000540.3(RYR1):c.6821A>G (p.Asp2274Gly) rs1064796493
NM_000540.3(RYR1):c.6845A>C (p.Asp2282Ala) rs2145588729
NM_000540.3(RYR1):c.6866C>T (p.Ala2289Val)
NM_000540.3(RYR1):c.686G>A (p.Cys229Tyr) rs765606076
NM_000540.3(RYR1):c.6884T>C (p.Leu2295Pro) rs1555782434
NM_000540.3(RYR1):c.7028-13T>C rs773283518
NM_000540.3(RYR1):c.7178A>C (p.Asp2393Ala)
NM_000540.3(RYR1):c.7205G>A (p.Arg2402Gln) rs1316906057
NM_000540.3(RYR1):c.7328T>C (p.Ile2443Thr)
NM_000540.3(RYR1):c.7442A>G (p.Lys2481Arg) rs2145605367
NM_000540.3(RYR1):c.7526T>G (p.Val2509Gly) rs2145606371
NM_000540.3(RYR1):c.7592G>A (p.Arg2531Lys)
NM_000540.3(RYR1):c.7616C>G (p.Ala2539Gly) rs761057071
NM_000540.3(RYR1):c.7697C>T (p.Ala2566Val)
NM_000540.3(RYR1):c.7723C>T (p.Arg2575Cys) rs1970183094
NM_000540.3(RYR1):c.7742C>T (p.Ser2581Phe) rs746348043
NM_000540.3(RYR1):c.7771C>T (p.Arg2591Trp) rs193922822
NM_000540.3(RYR1):c.7799G>A (p.Arg2600His) rs201749008
NM_000540.3(RYR1):c.7817G>A (p.Cys2606Tyr) rs1358912817
NM_000540.3(RYR1):c.7853T>G (p.Met2618Arg)
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro) rs1263237391
NM_000540.3(RYR1):c.7915A>C (p.Met2639Leu)
NM_000540.3(RYR1):c.8054C>T (p.Ser2685Phe) rs781126470
NM_000540.3(RYR1):c.823T>C (p.Trp275Arg)
NM_000540.3(RYR1):c.8265T>G (p.Ile2755Met)
NM_000540.3(RYR1):c.8297G>T (p.Trp2766Leu) rs1970379492
NM_000540.3(RYR1):c.8831T>C (p.Met2944Thr) rs1555786188
NM_000540.3(RYR1):c.8969C>G (p.Pro2990Arg)
NM_000540.3(RYR1):c.9131G>A (p.Cys3044Tyr)
NM_000540.3(RYR1):c.9155A>G (p.His3052Arg) rs1171211801
NM_000540.3(RYR1):c.9277C>T (p.Arg3093Cys) rs1064797039
NM_000540.3(RYR1):c.9281C>T (p.Ser3094Phe) rs2145662654
NM_000540.3(RYR1):c.9325A>G (p.Asn3109Asp)
NM_000540.3(RYR1):c.9356G>A (p.Arg3119His) rs193922833
NM_000540.3(RYR1):c.9550G>A (p.Glu3184Lys)
NM_000540.3(RYR1):c.957+5_957+29del rs794726982
NM_000540.3(RYR1):c.9629T>C (p.Leu3210Pro) rs2145677322
NM_000540.3(RYR1):c.9673C>T (p.Arg3225Trp) rs766665861
NM_000540.3(RYR1):c.9853T>A (p.Trp3285Arg) rs1356452031

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