ClinVar Miner

List of variants in gene RYR1 reported as likely pathogenic for hereditary skeletal muscle disorder

Included ClinVar conditions (586):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559 0.00003
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00003
NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met) rs575446156 0.00003
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg) rs757157750 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.15089G>A (p.Arg5030His) rs747155223 0.00002
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs) rs759632485 0.00002
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val) rs193922791 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp) rs761154999 0.00002
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp) rs1057518970 0.00002
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr) rs544339193 0.00002
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln) rs148399313 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14129+1G>A rs142929172 0.00001
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His) rs193922875 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met) rs193922884 0.00001
NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys) rs764602570 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.3223C>T (p.Arg1075Trp) rs573649990 0.00001
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln) rs749040743 0.00001
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met) rs145088074 0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.46-10G>A rs1972632890 0.00001
NM_000540.3(RYR1):c.46-1G>A rs1238479593 0.00001
NM_000540.3(RYR1):c.4715T>C (p.Met1572Thr) rs1165213387 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met) rs776830747 0.00001
NM_000540.3(RYR1):c.658C>T (p.Arg220Cys) rs1220780685 0.00001
NM_000540.3(RYR1):c.6823G>A (p.Val2275Met) rs756847750 0.00001
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969 0.00001
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met) rs193922799 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter) rs1365856881 0.00001
NM_000540.3(RYR1):c.798C>T (p.Ile266=) rs764527957 0.00001
NM_000540.3(RYR1):c.839G>A (p.Arg280Gln) rs1319877486 0.00001
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293 0.00001
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter) rs1374378105 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu) rs758210285 0.00001
NM_000540.3(RYR1):c.9716T>A (p.Met3239Lys) rs371027185 0.00001
GRCh37/hg19 19q13.2(chr19:38987608-38993136)
NM_000540.2(RYR1):c.14970delG rs1568613962
NM_000540.2(RYR1):c.[14524G>A];[2029C>T]
NM_000540.2(RYR1):c.[14645C>T];[6721C>T]
NM_000540.3(RYR1):c.1007_1008del (p.Pro336fs)
NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter)
NM_000540.3(RYR1):c.10336del (p.Ser3446fs)
NM_000540.3(RYR1):c.10441-48G>A
NM_000540.3(RYR1):c.10450dup (p.Ile3484fs)
NM_000540.3(RYR1):c.10729C>G (p.Arg3577Gly) rs538497899
NM_000540.3(RYR1):c.10828G>T (p.Glu3610Ter)
NM_000540.3(RYR1):c.10924T>G (p.Tyr3642Asp) rs1971575594
NM_000540.3(RYR1):c.11193+1G>A
NM_000540.3(RYR1):c.11359+1del
NM_000540.3(RYR1):c.11608+1G>A
NM_000540.3(RYR1):c.11715G>C (p.Gln3905His)
NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys) rs774919231
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.3(RYR1):c.12012G>A (p.Gln4004=)
NM_000540.3(RYR1):c.1202G>A (p.Arg401His) rs193922766
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu) rs193922766
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.12095-2A>G
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12590_12591del (p.Ile4196_Ser4197insTer)
NM_000540.3(RYR1):c.12623A>G (p.Gln4208Arg)
NM_000540.3(RYR1):c.128A>C (p.Asn43Thr)
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.13041_13066del (p.Ala4348fs)
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe) rs911417327
NM_000540.3(RYR1):c.13667T>C (p.Leu4556Pro)
NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser) rs1568593922
NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly) rs1568593984
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.13913G>T (p.Gly4638Val)
NM_000540.3(RYR1):c.13940T>A (p.Leu4647Gln)
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.14228G>T (p.Gly4743Val)
NM_000540.3(RYR1):c.14364+1G>A rs1974046221
NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys) rs878854375
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14411A>G (p.His4804Arg) rs1568604308
NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr) rs1274780855
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr) rs2145895177
NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)
NM_000540.3(RYR1):c.14488T>C (p.Ser4830Pro)
NM_000540.3(RYR1):c.14490dup (p.Val4831fs) rs2145895408
NM_000540.3(RYR1):c.14504G>A (p.Gly4835Glu)
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.14591A>C (p.Tyr4864Ser) rs118192146
NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del) rs2145896801
NM_000540.3(RYR1):c.14596A>G (p.Lys4866Glu)
NM_000540.3(RYR1):c.14650T>C (p.Tyr4884His) rs2145912840
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)
NM_000540.3(RYR1):c.14690G>A (p.Gly4897Asp) rs118192148
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14758_14778dup (p.Ile4926_Val4927insThrPhePhePhePheValIle)
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14766C>A (p.Phe4922Leu) rs1599674487
NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met) rs2145917373
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser) rs1568614042
NM_000540.3(RYR1):c.15021+2T>G
NM_000540.3(RYR1):c.15047_15048del (p.Gln5016fs) rs1555806119
NM_000540.3(RYR1):c.165+1G>T
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.177dup (p.Asp60fs) rs756326114
NM_000540.3(RYR1):c.1999dup (p.Val667fs)
NM_000540.3(RYR1):c.2044C>G (p.Arg682Gly) rs776252106
NM_000540.3(RYR1):c.2065G>T (p.Glu689Ter)
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.2168-1G>A
NM_000540.3(RYR1):c.2200C>T (p.Gln734Ter)
NM_000540.3(RYR1):c.2287G>A (p.Val763Met) rs369947687
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter) rs371455345
NM_000540.3(RYR1):c.2338dup (p.Val780fs) rs1967603354
NM_000540.3(RYR1):c.2361-1G>A
NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)
NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs) rs1568454672
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.3(RYR1):c.2578-2A>G
NM_000540.3(RYR1):c.2633A>G (p.His878Arg)
NM_000540.3(RYR1):c.2648T>C (p.Leu883Pro)
NM_000540.3(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.3(RYR1):c.2792T>C (p.Leu931Pro) rs1600706153
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.3178+587A>G
NM_000540.3(RYR1):c.3263A>G (p.Tyr1088Cys)
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=) rs1234999215
NM_000540.3(RYR1):c.3364del (p.Val1122fs)
NM_000540.3(RYR1):c.3382-1G>A
NM_000540.3(RYR1):c.345G>A (p.Met115Ile)
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.3880G>T (p.Val1294Phe) rs1968540857
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.3(RYR1):c.4454G>A (p.Ser1485Asn) rs1317036540
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter) rs1332371891
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.5915A>T (p.Asn1972Ile) rs1377668924
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=) rs193922787
NM_000540.3(RYR1):c.6469del (p.Glu2157fs)
NM_000540.3(RYR1):c.6500T>G (p.Ile2167Ser)
NM_000540.3(RYR1):c.6800dup (p.Met2267fs)
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His) rs118192121
NM_000540.3(RYR1):c.685T>C (p.Cys229Arg) rs1600649879
NM_000540.3(RYR1):c.693del (p.Ile232fs)
NM_000540.3(RYR1):c.7084G>A (p.Glu2362Lys) rs762401851
NM_000540.3(RYR1):c.725G>A (p.Arg242Lys)
NM_000540.3(RYR1):c.7282G>T (p.Ala2428Ser)
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp) rs1801086
NM_000540.3(RYR1):c.7522C>A (p.Arg2508Ser)
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7835+1G>A rs1057524858
NM_000540.3(RYR1):c.7836-1G>A rs1568507354
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro) rs1263237391
NM_000540.3(RYR1):c.7927-1G>T
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs) rs1600842678
NM_000540.3(RYR1):c.7968C>A (p.Cys2656Ter)
NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys) rs1600843056
NM_000540.3(RYR1):c.8136dup (p.Asp2713fs) rs761483896
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)
NM_000540.3(RYR1):c.9345del (p.Ser3116fs) rs2145663047
NM_000540.3(RYR1):c.9611C>T (p.Ala3204Val)
NM_000540.3(RYR1):c.9625C>T (p.Gln3209Ter)
NM_000540.3(RYR1):c.9633C>A (p.Asn3211Lys) rs978984063
NM_000540.3(RYR1):c.9886del (p.Leu3296fs)
NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)
NM_000540.3(RYR1):c.[1834G>C];[2045G>A]

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