ClinVar Miner

List of variants reported as uncertain significance for muscular channelopathy by ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 220
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
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.1453A>G (p.Met485Val) rs147723844 0.00033
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
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.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys) rs118204421 0.00009
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu) rs151029675 0.00009
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile) rs140616359 0.00008
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00008
NM_000540.3(RYR1):c.1475G>A (p.Arg492His) rs901087791 0.00007
NM_000540.3(RYR1):c.12398A>G (p.Glu4133Gly) rs201321695 0.00006
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn) rs193922749 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile) rs193922795 0.00006
NM_000540.3(RYR1):c.7487C>T (p.Pro2496Leu) rs193922817 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000540.3(RYR1):c.12242C>T (p.Thr4081Met) rs373406011 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.12028G>A (p.Glu4010Lys) rs755088027 0.00004
NM_000540.3(RYR1):c.13760C>T (p.Pro4587Leu) rs143520367 0.00004
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.251C>T (p.Thr84Met) rs186983396 0.00004
NM_000540.3(RYR1):c.6671G>A (p.Arg2224His) rs537994744 0.00004
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387 0.00003
NM_000540.3(RYR1):c.14782A>G (p.Ile4928Val) rs1286759539 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.7210G>A (p.Glu2404Lys) rs111364296 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu) rs193922761 0.00003
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.12064A>G (p.Met4022Val) rs773040531 0.00002
NM_000540.3(RYR1):c.12355A>T (p.Asn4119Tyr) rs193922848 0.00002
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg) rs759500310 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.625G>A (p.Glu209Lys) rs771058055 0.00002
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val) rs193922791 0.00002
NM_000540.3(RYR1):c.6743G>A (p.Arg2248His) rs140152019 0.00002
NM_000540.3(RYR1):c.7760A>G (p.Tyr2587Cys) rs767553612 0.00002
NM_000540.3(RYR1):c.7778G>A (p.Arg2593His) rs751180702 0.00002
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His) rs193922834 0.00001
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln) rs113332073 0.00001
NM_000540.3(RYR1):c.1100G>T (p.Arg367Leu) rs113332073 0.00001
NM_000540.3(RYR1):c.12121C>T (p.Arg4041Trp) rs144685735 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 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.14002C>T (p.Pro4668Ser) rs193922863 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.1553T>C (p.Val518Ala) rs1195513704 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.2924G>A (p.Arg975Gln) rs778241277 0.00001
NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys) rs193922776 0.00001
NM_000540.3(RYR1):c.3667G>A (p.Glu1223Lys) rs936513262 0.00001
NM_000540.3(RYR1):c.4400A>G (p.Lys1467Arg) rs145573319 0.00001
NM_000540.3(RYR1):c.4775C>T (p.Pro1592Leu) rs193922777 0.00001
NM_000540.3(RYR1):c.488G>A (p.Arg163His) rs193922753 0.00001
NM_000540.3(RYR1):c.5033A>G (p.Asn1678Ser) rs781104539 0.00001
NM_000540.3(RYR1):c.5132A>G (p.Tyr1711Cys) rs754785770 0.00001
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) rs761616815 0.00001
NM_000540.3(RYR1):c.5341T>C (p.Cys1781Arg) rs372958050 0.00001
NM_000540.3(RYR1):c.6377G>A (p.Arg2126Gln) rs1469128640 0.00001
NM_000540.3(RYR1):c.6388G>A (p.Gly2130Arg) rs193922789 0.00001
NM_000540.3(RYR1):c.652G>A (p.Val218Ile) rs193922759 0.00001
NM_000540.3(RYR1):c.6742C>T (p.Arg2248Cys) rs763352221 0.00001
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met) rs193922799 0.00001
NM_000540.3(RYR1):c.7075C>T (p.Arg2359Trp) rs769482889 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 0.00001
NM_000540.3(RYR1):c.7385C>T (p.Pro2462Leu) rs551223467 0.00001
NM_000540.3(RYR1):c.7787C>T (p.Thr2596Ile) rs193922824 0.00001
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp) rs193922830 0.00001
NM_000540.3(RYR1):c.8527T>C (p.Ser2843Pro) rs768535909 0.00001
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys) rs112772310 0.00001
NM_000540.3(RYR1):c.946C>T (p.Arg316Cys) rs752652072 0.00001
NM_000540.3(RYR1):c.9652G>A (p.Val3218Met) rs553055844 0.00001
NM_000540.3(RYR1):c.9848G>A (p.Arg3283Gln) rs757753317 0.00001
NM_000540.3(RYR1):c.10229C>A (p.Pro3410Gln) rs769196275
NM_000540.3(RYR1):c.10237A>T (p.Ile3413Phe) rs2145689573
NM_000540.3(RYR1):c.1024G>A (p.Glu342Lys) rs2145361853
NM_000540.3(RYR1):c.10252A>G (p.Asn3418Asp) rs2145689666
NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu) rs1600921854
NM_000540.3(RYR1):c.10750G>C (p.Glu3584Gln) rs1600930723
NM_000540.3(RYR1):c.10891G>T (p.Ala3631Ser) rs1367333710
NM_000540.3(RYR1):c.11086G>C (p.Asp3696His) rs2145724998
NM_000540.3(RYR1):c.11120G>T (p.Arg3707Leu) rs193922838
NM_000540.3(RYR1):c.11126C>T (p.Ala3709Val) rs1555791418
NM_000540.3(RYR1):c.11132C>T (p.Thr3711Met) rs375915752
NM_000540.3(RYR1):c.11416G>A (p.Gly3806Arg) rs111565359
NM_000540.3(RYR1):c.1144C>A (p.His382Asn) rs2145374470
NM_000540.3(RYR1):c.11723A>T (p.Asn3908Ile) rs141803364
NM_000540.3(RYR1):c.11748T>G (p.Ile3916Met) rs193922840
NM_000540.3(RYR1):c.11813G>A (p.Gly3938Asp) rs1972296024
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys) rs1600989183
NM_000540.3(RYR1):c.11953T>C (p.Trp3985Arg) rs118204422
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.3(RYR1):c.119G>C (p.Gly40Ala) rs2145320724
NM_000540.3(RYR1):c.1201C>A (p.Arg401Ser) rs193922764
NM_000540.3(RYR1):c.1201C>G (p.Arg401Gly) rs193922764
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.12115A>T (p.Ile4039Phe) rs2145790232
NM_000540.3(RYR1):c.12383C>T (p.Ala4128Val) rs2145830877
NM_000540.3(RYR1):c.12413T>C (p.Ile4138Thr) rs193922850
NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser) rs1057518885
NM_000540.3(RYR1):c.12533G>T (p.Gly4178Val) rs1568576165
NM_000540.3(RYR1):c.12689T>G (p.Met4230Arg) rs1568581848
NM_000540.3(RYR1):c.12848A>T (p.Glu4283Val) rs193922853
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val) rs1599646668
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.13918A>G (p.Met4640Val) rs756850145
NM_000540.3(RYR1):c.13994_13995delinsCT (p.Leu4665Pro) rs193922862
NM_000540.3(RYR1):c.14051T>C (p.Phe4684Ser) rs193922864
NM_000540.3(RYR1):c.1411C>T (p.Arg471Cys) rs1376393998
NM_000540.3(RYR1):c.14186A>C (p.His4729Pro) rs1568601643
NM_000540.3(RYR1):c.14197T>G (p.Tyr4733Asp) rs193922865
NM_000540.3(RYR1):c.14201G>A (p.Gly4734Glu) rs193922866
NM_000540.3(RYR1):c.1422G>T (p.Gln474His) rs193922767
NM_000540.3(RYR1):c.14364+1G>T rs1974046221
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.14422_14423inv (p.Phe4808Asn)
NM_000540.3(RYR1):c.14424C>A (p.Phe4808Leu) rs780689135
NM_000540.3(RYR1):c.14449A>T (p.Ile4817Phe) rs143988412
NM_000540.3(RYR1):c.14458G>A (p.Gly4820Arg) rs193922873
NM_000540.3(RYR1):c.14458G>T (p.Gly4820Trp) rs193922873
NM_000540.3(RYR1):c.14471T>C (p.Leu4824Pro) rs193922874
NM_000540.3(RYR1):c.14509C>G (p.Gln4837Glu) rs1568604577
NM_000540.3(RYR1):c.14558C>T (p.Thr4853Ile) rs1555803922
NM_000540.3(RYR1):c.14567C>G (p.Ala4856Gly) rs193922880
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.1459C>G (p.Leu487Val) rs780898260
NM_000540.3(RYR1):c.1460T>C (p.Leu487Pro) rs1008860336
NM_000540.3(RYR1):c.14639T>C (p.Met4880Thr) rs193922883
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.3(RYR1):c.14680G>A (p.Ala4894Thr) rs193922888
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14813T>C (p.Ile4938Thr) rs111657878
NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met) rs118192159
NM_000540.3(RYR1):c.14817C>A (p.Asp4939Glu) rs193922895
NM_000540.3(RYR1):c.14825G>T (p.Gly4942Val) rs193922896
NM_000540.3(RYR1):c.14879T>A (p.Phe4960Tyr) rs193922898
NM_000540.3(RYR1):c.14968A>G (p.Met4990Val) rs2145918316
NM_000540.3(RYR1):c.15059G>C (p.Trp5020Ser) rs2145922063
NM_000540.3(RYR1):c.15060G>C (p.Trp5020Cys) rs2145922066
NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser) rs193922768
NM_000540.3(RYR1):c.178G>T (p.Asp60Tyr) rs118192160
NM_000540.3(RYR1):c.1834G>C (p.Ala612Pro) rs118204423
NM_000540.3(RYR1):c.190T>C (p.Cys64Arg) rs995399438
NM_000540.3(RYR1):c.2050G>C (p.Gly684Arg) rs747177274
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.2537C>T (p.Ser846Leu) rs193922775
NM_000540.3(RYR1):c.3166G>A (p.Asp1056Asn) rs2145447772
NM_000540.3(RYR1):c.3172G>A (p.Glu1058Lys) rs1968107192
NM_000540.3(RYR1):c.3527C>T (p.Thr1176Ile) rs549201486
NM_000540.3(RYR1):c.3656A>C (p.Gln1219Pro) rs2145463700
NM_000540.3(RYR1):c.455C>A (p.Ala152Asp) rs1555763641
NM_000540.3(RYR1):c.467G>A (p.Arg156Lys) rs193922751
NM_000540.3(RYR1):c.479A>G (p.Glu160Gly) rs193922752
NM_000540.3(RYR1):c.493G>A (p.Gly165Arg) rs193922754
NM_000540.3(RYR1):c.496G>A (p.Asp166Asn) rs193922755
NM_000540.3(RYR1):c.497A>G (p.Asp166Gly) rs193922756
NM_000540.3(RYR1):c.5024T>C (p.Leu1675Pro) rs2145542250
NM_000540.3(RYR1):c.5186T>G (p.Met1729Arg) rs193922782
NM_000540.3(RYR1):c.51_53del (p.Asp17del) rs193922745
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.3(RYR1):c.533A>C (p.Tyr178Ser) rs193922758
NM_000540.3(RYR1):c.5440A>G (p.Met1814Val) rs2145545032
NM_000540.3(RYR1):c.5441T>A (p.Met1814Lys) rs193922783
NM_000540.3(RYR1):c.5890C>T (p.Arg1964Cys) rs145801146
NM_000540.3(RYR1):c.6037A>C (p.Lys2013Gln) rs2145564171
NM_000540.3(RYR1):c.6304G>C (p.Val2102Leu) rs770593660
NM_000540.3(RYR1):c.6544A>T (p.Ile2182Phe) rs193922790
NM_000540.3(RYR1):c.6548G>A (p.Gly2183Glu) rs959170123
NM_000540.3(RYR1):c.6635T>A (p.Val2212Asp) rs193922793
NM_000540.3(RYR1):c.6710G>A (p.Cys2237Tyr) rs2145586397
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr) rs917523269
NM_000540.3(RYR1):c.677T>A (p.Met226Lys) rs112596687
NM_000540.3(RYR1):c.680A>T (p.Asp227Val) rs193922760
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His) rs118192121
NM_000540.3(RYR1):c.7018T>C (p.Phe2340Leu) rs1969983957
NM_000540.3(RYR1):c.7032G>C (p.Glu2344Asp) rs193922798
NM_000540.3(RYR1):c.7073T>A (p.Ile2358Asn) rs1600820232
NM_000540.3(RYR1):c.7085A>G (p.Glu2362Gly) rs193922804
NM_000540.3(RYR1):c.7089C>G (p.Cys2363Trp) rs2228071
NM_000540.3(RYR1):c.7097C>G (p.Pro2366Arg) rs193922806
NM_000540.3(RYR1):c.7112A>G (p.Glu2371Gly) rs2145600668
NM_000540.3(RYR1):c.7292A>T (p.Asp2431Val) rs2145602229
NM_000540.3(RYR1):c.7307G>A (p.Cys2436Tyr) rs2145602328
NM_000540.3(RYR1):c.7317G>C (p.Glu2439Asp) rs193922813
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.7355G>C (p.Arg2452Pro) rs193922815
NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly) rs118192178
NM_000540.3(RYR1):c.7528T>C (p.Tyr2510His) rs193922819
NM_000540.3(RYR1):c.7771C>T (p.Arg2591Trp) rs193922822
NM_000540.3(RYR1):c.7777C>G (p.Arg2593Gly) rs756685891
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met) rs914804033
NM_000540.3(RYR1):c.8005G>A (p.Glu2669Lys) rs2145626689
NM_000540.3(RYR1):c.8054C>T (p.Ser2685Phe) rs781126470
NM_000540.3(RYR1):c.8188G>C (p.Asp2730His) rs193922827
NM_000540.3(RYR1):c.8189A>G (p.Asp2730Gly) rs112196644
NM_000540.3(RYR1):c.8198G>A (p.Gly2733Asp) rs193922828
NM_000540.3(RYR1):c.8600T>A (p.Leu2867Gln) rs193922831
NM_000540.3(RYR1):c.8654C>G (p.Thr2885Arg) rs1159304367
NM_000540.3(RYR1):c.8729C>T (p.Thr2910Met) rs1291499059
NM_000540.3(RYR1):c.8926C>T (p.His2976Tyr) rs2145643832
NM_000540.3(RYR1):c.9268G>A (p.Ala3090Thr) rs2145662576
NM_000540.3(RYR1):c.9356G>A (p.Arg3119His) rs193922833
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter) rs1171637302
NM_000540.3(RYR1):c.9649T>C (p.Ser3217Pro) rs113422327
NM_000540.3(RYR1):c.9676G>C (p.Glu3226Gln) rs1970963163
NM_000540.3(RYR1):c.9797T>C (p.Met3266Thr) rs2145682010
NM_000540.3(RYR1):c.9850T>A (p.Trp3284Arg) rs1555788577
NM_000540.3(RYR1):c.9868G>A (p.Glu3290Lys) rs112151058

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.