ClinVar Miner

List of variants in gene RYR1 reported as likely benign for Neuromuscular disease, congenital, with uniform type 1 fiber

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Total variants: 140
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HGVS dbSNP
NM_000540.2(RYR1):c.*135C>T rs188314477
NM_000540.2(RYR1):c.-102C>T rs190259953
NM_000540.2(RYR1):c.10048C>A (p.Arg3350=) rs200355885
NM_000540.2(RYR1):c.10119G>A (p.Val3373=) rs140689610
NM_000540.2(RYR1):c.10259+10G>A rs187018043
NM_000540.2(RYR1):c.10259+7G>A rs143752962
NM_000540.2(RYR1):c.10260-12C>T rs779541890
NM_000540.2(RYR1):c.10578G>A (p.Ala3526=) rs368360689
NM_000540.2(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635
NM_000540.2(RYR1):c.10941C>G (p.His3647Gln) rs114351116
NM_000540.2(RYR1):c.11141+7A>G rs78350770
NM_000540.2(RYR1):c.1123-11C>T rs3745845
NM_000540.2(RYR1):c.11360-9T>A rs150187840
NM_000540.2(RYR1):c.11439+9G>A rs369650355
NM_000540.2(RYR1):c.11517C>T (p.Ser3839=) rs151239950
NM_000540.2(RYR1):c.11547G>A (p.Gln3849=) rs142518033
NM_000540.2(RYR1):c.11625G>A (p.Ala3875=) rs61729397
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.1218C>T (p.Thr406=) rs3745846
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428
NM_000540.2(RYR1):c.12588C>T (p.Ile4196=) rs61739895
NM_000540.2(RYR1):c.12624+9A>G rs548515798
NM_000540.2(RYR1):c.12741C>T (p.Ala4247=) rs80039127
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.12888G>C (p.Arg4296=) rs571850239
NM_000540.2(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350
NM_000540.2(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.2(RYR1):c.13191C>T (p.Ala4397=) rs543458339
NM_000540.2(RYR1):c.13317C>T (p.Ala4439=) rs113579185
NM_000540.2(RYR1):c.13464G>A (p.Pro4488=) rs10405232
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000540.2(RYR1):c.13503G>A (p.Pro4501=) rs2960319
NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387
NM_000540.2(RYR1):c.14129+10C>A rs546280470
NM_000540.2(RYR1):c.14130-8C>G rs140808099
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
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.14602G>A (p.Glu4868Lys) rs187569997
NM_000540.2(RYR1):c.15015G>A (p.Thr5005=) rs2229149
NM_000540.2(RYR1):c.1577-6C>G rs61586345
NM_000540.2(RYR1):c.1923C>G (p.Thr641=) rs116591968
NM_000540.2(RYR1):c.2004C>T (p.Asp668=) rs78835441
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.216G>T (p.Leu72=) rs113389877
NM_000540.2(RYR1):c.2223C>T (p.Asp741=) rs150831055
NM_000540.2(RYR1):c.2241G>A (p.Leu747=) rs34097444
NM_000540.2(RYR1):c.2319C>T (p.Asp773=) rs374924686
NM_000540.2(RYR1):c.2545G>A (p.Asp849Asn) rs200893443
NM_000540.2(RYR1):c.255G>T (p.Val85=) rs532101469
NM_000540.2(RYR1):c.2676C>T (p.Tyr892=) rs375402078
NM_000540.2(RYR1):c.2677G>A (p.Gly893Ser) rs147336515
NM_000540.2(RYR1):c.2682+7G>A rs201498416
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.2797G>A (p.Ala933Thr) rs148623597
NM_000540.2(RYR1):c.2835G>A (p.Ala945=) rs576990255
NM_000540.2(RYR1):c.2919C>T (p.His973=) rs139363830
NM_000540.2(RYR1):c.2996G>A (p.Arg999His) rs180714609
NM_000540.2(RYR1):c.3042G>A (p.Ala1014=) rs2228074
NM_000540.2(RYR1):c.3111C>T (p.Ser1037=) rs145434723
NM_000540.2(RYR1):c.3123C>T (p.Ala1041=) rs569565316
NM_000540.2(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391
NM_000540.2(RYR1):c.3381C>T (p.Arg1127=) rs200780880
NM_000540.2(RYR1):c.3420C>G (p.Arg1140=) rs201599911
NM_000540.2(RYR1):c.3557-6C>T rs139849689
NM_000540.2(RYR1):c.3567C>T (p.Pro1189=) rs200161205
NM_000540.2(RYR1):c.3876C>A (p.Leu1292=) rs143750836
NM_000540.2(RYR1):c.3924G>C (p.Pro1308=) rs144350050
NM_000540.2(RYR1):c.3972G>A (p.Ala1324=) rs200451188
NM_000540.2(RYR1):c.4071C>T (p.Pro1357=) rs375709463
NM_000540.2(RYR1):c.4074G>A (p.Gly1358=) rs372178862
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4292C>T (p.Thr1431Met) rs191656849
NM_000540.2(RYR1):c.4443C>T (p.Asn1481=) rs141317474
NM_000540.2(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.2(RYR1):c.4719G>A (p.Pro1573=) rs35480887
NM_000540.2(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250
NM_000540.2(RYR1):c.4758G>A (p.Pro1586=) rs374222028
NM_000540.2(RYR1):c.4763C>T (p.Pro1588Leu) rs151029675
NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615
NM_000540.2(RYR1):c.4971C>T (p.Asp1657=) rs141107290
NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857
NM_000540.2(RYR1):c.5321C>T (p.Pro1774Leu) rs199837883
NM_000540.2(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920
NM_000540.2(RYR1):c.5493G>T (p.Gly1831=) rs140004449
NM_000540.2(RYR1):c.5548-9G>T rs776320867
NM_000540.2(RYR1):c.5565C>T (p.Gly1855=) rs61750975
NM_000540.2(RYR1):c.5622A>G (p.Glu1874=) rs35021937
NM_000540.2(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198
NM_000540.2(RYR1):c.573C>T (p.Asp191=) rs892054
NM_000540.2(RYR1):c.6127+3A>G rs78851466
NM_000540.2(RYR1):c.6353G>C (p.Arg2118Pro) rs201649680
NM_000540.2(RYR1):c.6384C>T (p.Tyr2128=) rs75181912
NM_000540.2(RYR1):c.6407G>A (p.Arg2136His) rs530885842
NM_000540.2(RYR1):c.6498C>T (p.Leu2166=) rs151313865
NM_000540.2(RYR1):c.6600G>A (p.Ala2200=) rs375640581
NM_000540.2(RYR1):c.6645C>T (p.Leu2215=) rs146617004
NM_000540.2(RYR1):c.6732G>A (p.Arg2244=) rs78915828
NM_000540.2(RYR1):c.6961A>G (p.Ile2321Val) rs34390345
NM_000540.2(RYR1):c.725+6G>A rs201679831
NM_000540.2(RYR1):c.7281C>T (p.Ala2427=) rs77310009
NM_000540.2(RYR1):c.7385C>T (p.Pro2462Leu) rs551223467
NM_000540.2(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.2(RYR1):c.7615-7G>A rs146159174
NM_000540.2(RYR1):c.7737G>A (p.Val2579=) rs114975624
NM_000540.2(RYR1):c.7788C>T (p.Thr2596=) rs199636890
NM_000540.2(RYR1):c.7835+7C>T rs114522234
NM_000540.2(RYR1):c.7855C>T (p.Leu2619=) rs762212220
NM_000540.2(RYR1):c.7881G>A (p.Val2627=) rs201877620
NM_000540.2(RYR1):c.7923C>G (p.Leu2641=) rs142558977
NM_000540.2(RYR1):c.8068-14C>T rs57376136
NM_000540.2(RYR1):c.8079G>A (p.Pro2693=) rs368063600
NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.8376G>A (p.Arg2792=) rs150388417
NM_000540.2(RYR1):c.8514A>C (p.Lys2838Asn) rs140171924
NM_000540.2(RYR1):c.8616+7G>A rs200023171
NM_000540.2(RYR1):c.873G>A (p.Ala291=) rs2229140
NM_000540.2(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840
NM_000540.2(RYR1):c.8949T>C (p.Ser2983=) rs116537677
NM_000540.2(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000540.2(RYR1):c.906C>T (p.Asp302=) rs145943283
NM_000540.2(RYR1):c.9093C>T (p.Ala3031=) rs140197877
NM_000540.2(RYR1):c.9148G>A (p.Val3050Ile) rs200797340
NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) rs147012990
NM_000540.2(RYR1):c.9262G>A (p.Val3088Met) rs145044872
NM_000540.2(RYR1):c.9353C>T (p.Ala3118Val) rs2915960
NM_000540.2(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911
NM_000540.2(RYR1):c.9414G>A (p.Pro3138=) rs116130182
NM_000540.2(RYR1):c.9555-9G>A rs149569999
NM_000540.2(RYR1):c.958-11del rs537751969
NM_000540.2(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299
NM_000540.2(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000540.2(RYR1):c.9771C>T (p.Ala3257=) rs75991872
NM_000540.2(RYR1):c.9882C>T (p.Ser3294=) rs142610625
NM_001042723.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_001042723.2(RYR1):c.5628_5630GGA[2] (p.Glu1878del) rs371047178

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