ClinVar Miner

List of variants in gene RYR1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 240
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HGVS dbSNP
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.10119G>A (p.Val3373=) rs140689610
NM_000540.2(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100
NM_000540.2(RYR1):c.10348-6C>G rs193922837
NM_000540.2(RYR1):c.10505G>A (p.Arg3502Gln) rs369422480
NM_000540.2(RYR1):c.10619A>T (p.Tyr3540Phe) rs752477271
NM_000540.2(RYR1):c.10917G>A (p.Thr3639=) rs371952058
NM_000540.2(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609
NM_000540.2(RYR1):c.1131G>A (p.Leu377=) rs1555766901
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.12110del (p.Gly4037fs) rs1555795308
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.1250T>C (p.Leu417Pro) rs764262446
NM_000540.2(RYR1):c.12603C>T (p.Arg4201=) rs1273187654
NM_000540.2(RYR1):c.12625-8C>T rs778720628
NM_000540.2(RYR1):c.12629A>G (p.Lys4210Arg) rs138932463
NM_000540.2(RYR1):c.12791G>A (p.Gly4264Asp) rs949615251
NM_000540.2(RYR1):c.12863_12865CGG[2] (p.Ala4290_Ala4291del) rs1228854800
NM_000540.2(RYR1):c.12869C>T (p.Ala4290Val) rs755065800
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966
NM_000540.2(RYR1):c.12884C>T (p.Ala4295Val) rs193922855
NM_000540.2(RYR1):c.12901G>A (p.Ala4301Thr) rs1599634913
NM_000540.2(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350
NM_000540.2(RYR1):c.13015G>C (p.Ala4339Pro) rs1064797241
NM_000540.2(RYR1):c.13022C>T (p.Thr4341Met) rs752855919
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13207G>A (p.Ala4403Thr) rs1051206491
NM_000540.2(RYR1):c.13484C>T (p.Pro4495Leu) rs138929547
NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387
NM_000540.2(RYR1):c.13548G>C (p.Glu4516Asp) rs1057520187
NM_000540.2(RYR1):c.13565C>G (p.Pro4522Arg) rs145167688
NM_000540.2(RYR1):c.13760C>T (p.Pro4587Leu) rs143520367
NM_000540.2(RYR1):c.13863G>A (p.Glu4621=) rs140750876
NM_000540.2(RYR1):c.14130-8C>G rs140808099
NM_000540.2(RYR1):c.14365-6C>T rs1064797242
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
NM_000540.2(RYR1):c.14524G>A rs193922879
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.14642T>C (p.Met4881Thr) rs1568605367
NM_000540.2(RYR1):c.14940G>A (p.Thr4980=) rs765570755
NM_000540.2(RYR1):c.15030T>A (p.Tyr5010Ter) rs1064797243
NM_000540.2(RYR1):c.15084T>C (p.Cys5028=) rs758735802
NM_000540.2(RYR1):c.178G>A (p.Asp60Asn) rs118192160
NM_000540.2(RYR1):c.1855C>G (p.Leu619Val) rs1057519184
NM_000540.2(RYR1):c.1931G>A (p.Arg644His) rs766150328
NM_000540.2(RYR1):c.2091C>T (p.Ala697=) rs138704724
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.2160C>G (p.Leu720=) rs200914778
NM_000540.2(RYR1):c.2319C>T (p.Asp773=) rs374924686
NM_000540.2(RYR1):c.2356G>A (p.Val786Ile) rs369281291
NM_000540.2(RYR1):c.2390G>A (p.Gly797Asp) rs896357123
NM_000540.2(RYR1):c.2488C>T (p.Arg830Trp) rs142548565
NM_000540.2(RYR1):c.2528G>A (p.Arg843His) rs144911352
NM_000540.2(RYR1):c.2634C>T (p.His878=) rs202233201
NM_000540.2(RYR1):c.2645C>T (p.Ala882Val) rs143701391
NM_000540.2(RYR1):c.2682+7G>A rs201498416
NM_000540.2(RYR1):c.2683-4C>A rs1009407504
NM_000540.2(RYR1):c.2712G>A (p.Pro904=) rs139339574
NM_000540.2(RYR1):c.2919C>T (p.His973=) rs139363830
NM_000540.2(RYR1):c.3111C>T (p.Ser1037=) rs145434723
NM_000540.2(RYR1):c.3218T>C (p.Ile1073Thr) rs769763365
NM_000540.2(RYR1):c.3252C>T (p.Ser1084=) rs144164620
NM_000540.2(RYR1):c.325C>T (p.Arg109Trp) rs118192173
NM_000540.2(RYR1):c.3379C>T (p.Arg1127Cys) rs753701890
NM_000540.2(RYR1):c.3420C>T (p.Arg1140=) rs201599911
NM_000540.2(RYR1):c.3495C>T (p.Gly1165=) rs772616442
NM_000540.2(RYR1):c.3567C>T (p.Pro1189=) rs200161205
NM_000540.2(RYR1):c.364A>C (p.Thr122Pro) rs1555763388
NM_000540.2(RYR1):c.3924G>C (p.Pro1308=) rs144350050
NM_000540.2(RYR1):c.3951C>T (p.Pro1317=) rs745447236
NM_000540.2(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924
NM_000540.2(RYR1):c.408G>A (p.Leu136=) rs756918282
NM_000540.2(RYR1):c.4108G>A (p.Ala1370Thr) rs766147636
NM_000540.2(RYR1):c.4115C>T (p.Ala1372Val) rs370966353
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.418G>A (p.Ala140Thr) rs142474192
NM_000540.2(RYR1):c.4217C>T (p.Thr1406Met) rs187496208
NM_000540.2(RYR1):c.4236C>G (p.His1412Gln) rs146206507
NM_000540.2(RYR1):c.4269C>T (p.Pro1423=) rs2229141
NM_000540.2(RYR1):c.4294-4C>T rs368108496
NM_000540.2(RYR1):c.4306G>A (p.Val1436Met) rs200289457
NM_000540.2(RYR1):c.4363del (p.Asp1455fs) rs1555777086
NM_000540.2(RYR1):c.4478T>G (p.Met1493Arg) rs1568476094
NM_000540.2(RYR1):c.4489G>A (p.Gly1497Arg) rs367637223
NM_000540.2(RYR1):c.46-5C>T rs774388278
NM_000540.2(RYR1):c.4710C>T (p.Asn1570=) rs763113534
NM_000540.2(RYR1):c.4775C>T (p.Pro1592Leu) rs193922777
NM_000540.2(RYR1):c.4782G>A (p.Leu1594=) rs1064797239
NM_000540.2(RYR1):c.4848G>A (p.Thr1616=) rs377664365
NM_000540.2(RYR1):c.4852C>T (p.Arg1618Cys) rs924891897
NM_000540.2(RYR1):c.4911G>A (p.Ala1637=) rs370350821
NM_000540.2(RYR1):c.4931A>G (p.Asn1644Ser) rs1057519109
NM_000540.2(RYR1):c.4980C>T (p.Arg1660=) rs374115286
NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950
NM_000540.2(RYR1):c.5019C>T (p.Cys1673=) rs543026464
NM_000540.2(RYR1):c.5309C>T (p.Ser1770Leu) rs398123472
NM_000540.2(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153
NM_000540.2(RYR1):c.5637C>T (p.Asp1879=) rs143418190
NM_000540.2(RYR1):c.5814+1G>A rs1057519173
NM_000540.2(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.2(RYR1):c.619C>T (p.Arg207Cys) rs748140394
NM_000540.2(RYR1):c.641C>T (p.Thr214Met) rs727504129
NM_000540.2(RYR1):c.6469G>A (p.Glu2157Lys) rs554066182
NM_000540.2(RYR1):c.6645C>T (p.Leu2215=) rs146617004
NM_000540.2(RYR1):c.6790G>A (p.Gly2264Ser) rs1372408402
NM_000540.2(RYR1):c.7244G>A (p.Arg2415Gln) rs201584482
NM_000540.2(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.2(RYR1):c.7444+5A>G rs775251569
NM_000540.2(RYR1):c.7483G>A (p.Val2495Met) rs200291321
NM_000540.2(RYR1):c.7488G>A (p.Pro2496=) rs375997435
NM_000540.2(RYR1):c.751G>A (p.Val251Met) rs1216903554
NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.2(RYR1):c.7536C>T (p.Ile2512=) rs368560744
NM_000540.2(RYR1):c.7797G>A (p.Gln2599=) rs151309597
NM_000540.2(RYR1):c.7830C>T (p.Leu2610=) rs140063541
NM_000540.2(RYR1):c.7860G>A (p.Gln2620=) rs147587000
NM_000540.2(RYR1):c.7923C>G (p.Leu2641=) rs142558977
NM_000540.2(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826
NM_000540.2(RYR1):c.8093T>C (p.Met2698Thr) rs185021599
NM_000540.2(RYR1):c.8112C>T (p.Cys2704=) rs763722972
NM_000540.2(RYR1):c.8142T>C (p.Tyr2714=) rs567352621
NM_000540.2(RYR1):c.8417G>A (p.Arg2806His) rs778214809
NM_000540.2(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676
NM_000540.2(RYR1):c.8516C>T (p.Thr2839Met) rs781458272
NM_000540.2(RYR1):c.9262G>A (p.Val3088Met) rs145044872
NM_000540.2(RYR1):c.929C>T (p.Ala310Val) rs966781989
NM_000540.2(RYR1):c.9348G>A (p.Ser3116=) rs763655831
NM_000540.2(RYR1):c.9393C>T (p.Tyr3131=) rs753354701
NM_000540.2(RYR1):c.9476A>G (p.Asp3159Gly) rs879074444
NM_000540.2(RYR1):c.9587G>A (p.Arg3196His) rs1064797240
NM_000540.2(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299
NM_000540.2(RYR1):c.9718T>C (p.Cys3240Arg) rs979989952
NM_000540.2(RYR1):c.9789C>T (p.Tyr3263=) rs372613003
NM_000540.2(RYR1):c.9796A>C (p.Met3266Leu) rs201588259
NM_000540.2(RYR1):c.9895G>A (p.Gly3299Ser) rs372203483
NM_000540.3(RYR1):c.10023C>G (p.Phe3341Leu) rs753154402
NM_000540.3(RYR1):c.10023C>T (p.Phe3341=) rs753154402
NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln)
NM_000540.3(RYR1):c.10052C>T (p.Pro3351Leu)
NM_000540.3(RYR1):c.10096C>A (p.Arg3366Ser) rs561638083
NM_000540.3(RYR1):c.10180G>T (p.Val3394Leu) rs1600898457
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.3(RYR1):c.10263G>C (p.Ala3421=)
NM_000540.3(RYR1):c.10530C>T (p.Ile3510=)
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.3(RYR1):c.10750G>A (p.Glu3584Lys) rs1600930723
NM_000540.3(RYR1):c.10760A>G (p.Asp3587Gly) rs778763130
NM_000540.3(RYR1):c.11315G>T (p.Arg3772Leu) rs193922839
NM_000540.3(RYR1):c.116A>G (p.Glu39Gly) rs1600630863
NM_000540.3(RYR1):c.1172G>C (p.Arg391Pro) rs769387053
NM_000540.3(RYR1):c.12033G>A (p.Leu4011=)
NM_000540.3(RYR1):c.12550G>T (p.Gly4184Cys)
NM_000540.3(RYR1):c.12853_12864dup (p.Thr4285_Thr4288dup) rs1599634685
NM_000540.3(RYR1):c.12876G>C (p.Gly4292=)
NM_000540.3(RYR1):c.1294G>A (p.Gly432Ser)
NM_000540.3(RYR1):c.13048G>T (p.Ala4350Ser)
NM_000540.3(RYR1):c.13153G>T (p.Asp4385Tyr)
NM_000540.3(RYR1):c.13388C>T (p.Ala4463Val) rs1350916629
NM_000540.3(RYR1):c.13422C>T (p.Leu4474=) rs549532899
NM_000540.3(RYR1):c.13502C>G (p.Pro4501Arg) rs73933023
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13747-4T>G rs1287127447
NM_000540.3(RYR1):c.14579T>C (p.Phe4860Ser) rs1599665128
NM_000540.3(RYR1):c.14628G>A (p.Lys4876=) rs1395234830
NM_000540.3(RYR1):c.14724C>T (p.Asp4908=) rs756511525
NM_000540.3(RYR1):c.14803+5G>C rs1599674587
NM_000540.3(RYR1):c.14812A>G (p.Ile4938Val) rs1599676533
NM_000540.3(RYR1):c.1542G>A (p.Trp514Ter)
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys) rs757399861
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.3(RYR1):c.1622C>G (p.Thr541Arg) rs1600675641
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.3(RYR1):c.1952G>A (p.Arg651Gln) rs567997185
NM_000540.3(RYR1):c.2095G>A (p.Glu699Lys) rs553882104
NM_000540.3(RYR1):c.2214C>G (p.Ala738=)
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363
NM_000540.3(RYR1):c.251C>T (p.Thr84Met) rs186983396
NM_000540.3(RYR1):c.2594A>T (p.His865Leu) rs371862065
NM_000540.3(RYR1):c.2834C>T (p.Ala945Val) rs1348251043
NM_000540.3(RYR1):c.2871-5C>T rs45585535
NM_000540.3(RYR1):c.3057_3071del (p.Val1021_Leu1025del) rs1600711151
NM_000540.3(RYR1):c.3103C>T (p.Arg1035Trp) rs368384162
NM_000540.3(RYR1):c.3498G>C (p.Glu1166Asp) rs546323484
NM_000540.3(RYR1):c.3702C>T (p.Thr1234=) rs1600720232
NM_000540.3(RYR1):c.4215C>T (p.Pro1405=) rs752410805
NM_000540.3(RYR1):c.4665C>T (p.Pro1555=) rs764090645
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.3(RYR1):c.4878C>G (p.Ala1626=) rs369466056
NM_000540.3(RYR1):c.4915C>T (p.His1639Tyr)
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.3(RYR1):c.5352C>T (p.Ala1784=)
NM_000540.3(RYR1):c.546G>A (p.Ser182=)
NM_000540.3(RYR1):c.5593A>G (p.Met1865Val) rs1600783587
NM_000540.3(RYR1):c.5665_5667GAG[2] (p.Glu1891del) rs559371263
NM_000540.3(RYR1):c.5913C>A (p.Ala1971=) rs1600786983
NM_000540.3(RYR1):c.5986C>T (p.Arg1996Cys) rs1029641002
NM_000540.3(RYR1):c.631+1G>T
NM_000540.3(RYR1):c.6352C>T (p.Arg2118Trp) rs148660840
NM_000540.3(RYR1):c.6444C>T (p.Ser2148=) rs200381338
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000540.3(RYR1):c.6664-5C>G rs867630021
NM_000540.3(RYR1):c.668A>G (p.His223Arg) rs766836202
NM_000540.3(RYR1):c.6797-7C>T rs994688451
NM_000540.3(RYR1):c.6813G>A (p.Thr2271=) rs147786842
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.3(RYR1):c.7234G>A (p.Glu2412Lys) rs1247609577
NM_000540.3(RYR1):c.7299C>G (p.Leu2433=)
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122
NM_000540.3(RYR1):c.7709C>T (p.Ala2570Val) rs544312224
NM_000540.3(RYR1):c.7864C>T (p.Leu2622=) rs370820784
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met)
NM_000540.3(RYR1):c.798C>T (p.Ile266=) rs764527957
NM_000540.3(RYR1):c.8078C>T (p.Pro2693Leu)
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.3(RYR1):c.8400+5C>G rs774950464
NM_000540.3(RYR1):c.8699G>C (p.Gly2900Ala) rs750366916
NM_000540.3(RYR1):c.8733C>T (p.Leu2911=)
NM_000540.3(RYR1):c.9147C>T (p.Leu3049=) rs370445615
NM_000540.3(RYR1):c.9233+6del rs757394018
NM_000540.3(RYR1):c.9585C>T (p.Ala3195=)
NM_000540.3(RYR1):c.9777A>G (p.Ser3259=) rs1600890512
NM_000540.3(RYR1):c.9888G>A (p.Leu3296=) rs1600891288
NM_000540.3(RYR1):c.998T>C (p.Met333Thr) rs1600656748
NM_001042723.2(RYR1):c.12837_12845CACGGCGGC[1] (p.4280_4282TAA[1]) rs398123469
NM_001042723.2(RYR1):c.12936_12944GCGGCGGCT[3] (p.4313_4315RRL[3]) rs193922846
NM_001042723.2(RYR1):c.12998_13017del (p.Ala4333fs) rs193922856
NM_001042723.2(RYR1):c.14406_14408CTT[2] (p.Phe4805del) rs1555803810
NM_001042723.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_001042723.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266

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