ClinVar Miner

List of variants reported as likely benign for Central core myopathy

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ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_000540.3(RYR1):c.11625G>A (p.Ala3875=) rs61729397 0.00991
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=) rs10405232 0.00800
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00745
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=) rs77310009 0.00694
NM_000540.3(RYR1):c.3876C>A (p.Leu1292=) rs143750836 0.00639
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00597
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_000540.3(RYR1):c.6384C>T (p.Tyr2128=) rs75181912 0.00574
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00572
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=) rs35480887 0.00563
NM_000540.3(RYR1):c.8068-14C>T rs57376136 0.00554
NM_000540.3(RYR1):c.9771C>T (p.Ala3257=) rs75991872 0.00545
NM_000540.3(RYR1):c.2241G>A (p.Leu747=) rs34097444 0.00526
NM_000540.3(RYR1):c.873G>A (p.Ala291=) rs2229140 0.00484
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00478
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=) rs61739895 0.00460
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198 0.00452
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=) rs142610625 0.00443
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=) rs200451188 0.00422
NM_000540.3(RYR1):c.8949T>C (p.Ser2983=) rs116537677 0.00415
NM_000540.3(RYR1):c.1923C>G (p.Thr641=) rs116591968 0.00404
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=) rs140004449 0.00403
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00392
NM_000540.3(RYR1):c.6732G>A (p.Arg2244=) rs78915828 0.00357
NM_000540.3(RYR1):c.4071C>T (p.Pro1357=) rs375709463 0.00354
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=) rs2228074 0.00351
NM_000540.3(RYR1):c.10941C>G (p.His3647Gln) rs114351116 0.00326
NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840 0.00307
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00301
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00280
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00279
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00277
NM_000540.3(RYR1):c.11360-9T>A rs150187840 0.00260
NM_000540.3(RYR1):c.14130-8C>G rs140808099 0.00242
NM_000540.3(RYR1):c.216G>T (p.Leu72=) rs113389877 0.00213
NM_000540.3(RYR1):c.958-11del rs537751969 0.00211
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00206
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser) rs147336515 0.00202
NM_000540.3(RYR1):c.3557-6C>T rs139849689 0.00196
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00195
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00194
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00192
NM_000540.3(RYR1):c.9353C>T (p.Ala3118Val) rs2915960 0.00188
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00185
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00174
NM_000540.3(RYR1):c.-102C>T rs190259953 0.00171
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00166
NM_000540.3(RYR1):c.*135C>T rs188314477 0.00140
NM_000540.3(RYR1):c.2919C>T (p.His973=) rs139363830 0.00140
NM_000540.3(RYR1):c.7615-7G>A rs146159174 0.00133
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) rs142558977 0.00126
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911 0.00101
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00081
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_000540.3(RYR1):c.4971C>T (p.Asp1657=) rs141107290 0.00078
NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn) rs200893443 0.00074
NM_000540.3(RYR1):c.2682+7G>A rs201498416 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000540.3(RYR1):c.8616+7G>A rs200023171 0.00058
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00047
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_000540.3(RYR1):c.4074G>A (p.Gly1358=) rs372178862 0.00044
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=) rs146617004 0.00040
NM_000540.3(RYR1):c.7788C>T (p.Thr2596=) rs199636890 0.00039
NM_000540.3(RYR1):c.1123-11C>T rs3745845 0.00038
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 0.00036
NM_000540.3(RYR1):c.11439+9G>A rs369650355 0.00035
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857 0.00031
NM_000540.3(RYR1):c.6127+3A>G rs78851466 0.00031
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=) rs200780880 0.00028
NM_000540.3(RYR1):c.7881G>A (p.Val2627=) rs201877620 0.00021
NM_000540.3(RYR1):c.2223C>T (p.Asp741=) rs150831055 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00015
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=) rs144350050 0.00015
NM_000540.3(RYR1):c.10048C>A (p.Arg3350=) rs200355885 0.00014
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=) rs2229149 0.00014
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00014
NM_000540.3(RYR1):c.11517C>T (p.Ser3839=) rs151239950 0.00013
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile) rs200797340 0.00013
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu) rs199837883 0.00012
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=) rs375640581 0.00011
NM_000540.3(RYR1):c.4758G>A (p.Pro1586=) rs374222028 0.00010
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu) rs151029675 0.00009
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.9093C>T (p.Ala3031=) rs140197877 0.00008
NM_000540.3(RYR1):c.10260-12C>T rs779541890 0.00007
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=) rs571850239 0.00007
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys) rs187569997 0.00007
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00007
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00006
NM_000540.3(RYR1):c.2835G>A (p.Ala945=) rs576990255 0.00005
NM_000540.3(RYR1):c.3567C>T (p.Pro1189=) rs200161205 0.00005
NM_000540.3(RYR1):c.10578G>A (p.Ala3526=) rs368360689 0.00003
NM_000540.3(RYR1):c.1218C>T (p.Thr406=) rs3745846 0.00003
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387 0.00003
NM_000540.3(RYR1):c.12624+9A>G rs548515798 0.00002
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=) rs762212220 0.00002
NM_000540.3(RYR1):c.14129+10C>A rs546280470 0.00001
NM_000540.3(RYR1):c.255G>T (p.Val85=) rs532101469 0.00001
NM_000540.3(RYR1):c.5548-9G>T rs776320867 0.00001
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His) rs530885842 0.00001
NM_000540.3(RYR1):c.7385C>T (p.Pro2462Leu) rs551223467 0.00001
NM_000540.3(RYR1):c.8514A>C (p.Lys2838Asn) rs140171924 0.00001
NM_000540.3(RYR1):c.10259+10G>A rs187018043
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.13191C>T (p.Ala4397=) rs543458339
NM_000540.3(RYR1):c.2004C>T (p.Asp668=) rs78835441
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro) rs201649680
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339

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