ClinVar Miner

List of variants in gene RYR1 studied for Malignant hyperthermia, susceptibility to, 1

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Total variants: 124
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HGVS dbSNP
NM_000540.2(RYR1):c.10042C>T (p.Arg3348Cys) rs118204421
NM_000540.2(RYR1):c.10046C>G (p.Ala3349Gly) rs199531105
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10183C>T (p.Arg3395Trp) rs761996554
NM_000540.2(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.2(RYR1):c.10492C>G (p.Arg3498Gly) rs201358408
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.10664A>T (p.Asn3555Ile) rs199689862
NM_000540.2(RYR1):c.10702T>G (p.Ser3568Ala) rs772784769
NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273
NM_000540.2(RYR1):c.1099C>T (p.Arg367Trp) rs140037232
NM_000540.2(RYR1):c.11061_11063delGGA rs760784102
NM_000540.2(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584
NM_000540.2(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609
NM_000540.2(RYR1):c.11518G>A (p.Val3840Ile) rs140616359
NM_000540.2(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576
NM_000540.2(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495
NM_000540.2(RYR1):c.11731A>G (p.Thr3911Ala) rs200622493
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.2(RYR1):c.12121C>T (p.Arg4041Trp) rs144685735
NM_000540.2(RYR1):c.12251G>A (p.Arg4084His) rs779380542
NM_000540.2(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.13760C>T (p.Pro4587Leu) rs143520367
NM_000540.2(RYR1):c.1384G>A (p.Glu462Lys) rs199592055
NM_000540.2(RYR1):c.14167C>T (p.Arg4723Cys) rs200473035
NM_000540.2(RYR1):c.14189G>T (p.Gly4730Val) rs763466452
NM_000540.2(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.2(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.2(RYR1):c.14670G>C (p.Val4890=) rs773080803
NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.2(RYR1):c.1474C>T (p.Arg492Cys) rs199826952
NM_000540.2(RYR1):c.14901C>G (p.Asp4967Glu) rs201712715
NM_000540.2(RYR1):c.14915C>T (p.Thr4972Ile) rs199866740
NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.2(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000540.2(RYR1):c.15073G>A (p.Ala5025Thr) rs1057519258
NM_000540.2(RYR1):c.15098A>G (p.Tyr5033Cys) rs201765762
NM_000540.2(RYR1):c.1565A>C (p.Tyr522Ser) rs118192162
NM_000540.2(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.2(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.2(RYR1):c.1661A>G (p.Glu554Gly) rs760285455
NM_000540.2(RYR1):c.1753A>G (p.Ile585Val) rs200770015
NM_000540.2(RYR1):c.1808_1823del (p.Cys603fs) rs869312738
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.2075C>T (p.Thr692Ile) rs869312735
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.2173G>A (p.Val725Met) rs200698933
NM_000540.2(RYR1):c.2255C>T (p.Pro752Leu) rs201229451
NM_000540.2(RYR1):c.2275A>G (p.Asn759Asp) rs147320363
NM_000540.2(RYR1):c.2383C>T (p.Arg795Cys) rs547608972
NM_000540.2(RYR1):c.2461C>A (p.His821Asn) rs764127808
NM_000540.2(RYR1):c.2467G>C (p.Glu823Gln) rs370490388
NM_000540.2(RYR1):c.2533C>T (p.Leu845Phe) rs201545585
NM_000540.2(RYR1):c.2697C>A (p.Asn899Lys) rs201401814
NM_000540.2(RYR1):c.2812G>A (p.Val938Met) rs369182023
NM_000540.2(RYR1):c.2822C>T (p.Ala941Val) rs748568687
NM_000540.2(RYR1):c.2824G>A (p.Asp942Asn) rs869312736
NM_000540.2(RYR1):c.2956C>T (p.Arg986Cys) rs150993059
NM_000540.2(RYR1):c.3095G>A (p.Arg1032His) rs141942845
NM_000540.2(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095
NM_000540.2(RYR1):c.3431C>T (p.Pro1144Leu) rs201940876
NM_000540.2(RYR1):c.376A>G (p.Met126Val) rs146065960
NM_000540.2(RYR1):c.4024A>G (p.Ser1342Gly) rs34694816
NM_000540.2(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.2(RYR1):c.487C>T (p.Arg163Cys) rs118192161
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.5183C>T (p.Ser1728Phe) rs193922781
NM_000540.2(RYR1):c.5308T>G (p.Ser1770Ala) rs571494344
NM_000540.2(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857
NM_000540.2(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920
NM_000540.2(RYR1):c.5980C>T (p.Arg1994Cys) rs369167120
NM_000540.2(RYR1):c.5995del (p.Arg1999fs)
NM_000540.2(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374
NM_000540.2(RYR1):c.6191T>G (p.Met2064Arg) rs200388510
NM_000540.2(RYR1):c.6301A>G (p.Met2101Val) rs531823936
NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175
NM_000540.2(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.2(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.2(RYR1):c.6607A>G (p.Met2203Val) rs200203904
NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000540.2(RYR1):c.6640G>A (p.Val2214Ile) rs193922795
NM_000540.2(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223
NM_000540.2(RYR1):c.6688A>T (p.Thr2230Ser) rs200630616
NM_000540.2(RYR1):c.6700C>T (p.Arg2234Cys) rs201465595
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.6838G>A (p.Val2280Ile) rs193922797
NM_000540.2(RYR1):c.6961A>G (p.Ile2321Val) rs34390345
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.2(RYR1):c.7039_7041GAG[1] (p.Glu2348del) rs121918596
NM_000540.2(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000540.2(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934
NM_000540.2(RYR1):c.7210G>A (p.Glu2404Lys) rs111364296
NM_000540.2(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810
NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.2(RYR1):c.7361G>A (p.Arg2454His) rs118192122
NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397
NM_000540.2(RYR1):c.7373G>A (p.Arg2458His) rs121918594
NM_000540.2(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.2(RYR1):c.7487C>T (p.Pro2496Leu) rs193922817
NM_000540.2(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292
NM_000540.2(RYR1):c.7958A>G (p.Lys2653Arg) rs199864636
NM_000540.2(RYR1):c.8113G>A (p.Ala2705Thr) rs536813036
NM_000540.2(RYR1):c.8155T>C (p.Tyr2719His) rs200920798
NM_000540.2(RYR1):c.8231+1G>A rs869312737
NM_000540.2(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420
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.89A>T (p.Glu30Val) rs145771708
NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) rs147012990
NM_000540.2(RYR1):c.9347C>T (p.Ser3116Leu) rs200238436
NM_000540.2(RYR1):c.9643G>A (p.Ala3215Thr)
NM_000540.2(RYR1):c.9800C>T (p.Pro3267Leu) rs200375946
NM_000540.2(RYR1):c.[8026C>T;8360C>G]
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del) rs1438501767

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