ClinVar Miner

List of variants in gene RYR1 reported as likely benign for RYR1-Related Disorders

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Total variants: 196
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HGVS dbSNP
NM_000540.2(RYR1):c.10059C>T (p.Leu3353=) rs1454287833
NM_000540.2(RYR1):c.10140C>T (p.Arg3380=) rs778920137
NM_000540.2(RYR1):c.10161C>G (p.Ala3387=) rs376909404
NM_000540.2(RYR1):c.10230G>A (p.Pro3410=) rs774663618
NM_000540.2(RYR1):c.10308G>A (p.Arg3436=) rs765853789
NM_000540.2(RYR1):c.10440+7G>A rs750987143
NM_000540.2(RYR1):c.10441-6A>G rs765451004
NM_000540.2(RYR1):c.10552C>T (p.Leu3518=) rs1555790423
NM_000540.2(RYR1):c.10564C>A (p.Leu3522Met) rs200144997
NM_000540.2(RYR1):c.10578G>T (p.Ala3526=) rs368360689
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.10687-8_10687-7delinsTT rs1555790909
NM_000540.2(RYR1):c.11070G>A (p.Val3690=) rs753071672
NM_000540.2(RYR1):c.11334G>A (p.Val3778=) rs750080558
NM_000540.2(RYR1):c.11337G>A (p.Leu3779=) rs755875434
NM_000540.2(RYR1):c.11412C>T (p.Leu3804=) rs376851030
NM_000540.2(RYR1):c.11439+9G>A rs369650355
NM_000540.2(RYR1):c.114C>T (p.Ala38=) rs150794120
NM_000540.2(RYR1):c.1152C>T (p.Asp384=) rs149770144
NM_000540.2(RYR1):c.1155C>T (p.Asp385=) rs144658230
NM_000540.2(RYR1):c.11691T>C (p.Asp3897=) rs201588544
NM_000540.2(RYR1):c.11779-4C>T rs1555794234
NM_000540.2(RYR1):c.11940G>C (p.Ala3980=) rs750022861
NM_000540.2(RYR1):c.12099C>T (p.Asn4033=) rs201642412
NM_000540.2(RYR1):c.12222A>G (p.Glu4074=) rs751531998
NM_000540.2(RYR1):c.12360A>G (p.Glu4120=) rs758071179
NM_000540.2(RYR1):c.12507C>T (p.Ile4169=) rs747307874
NM_000540.2(RYR1):c.12603C>T (p.Arg4201=) rs1273187654
NM_000540.2(RYR1):c.12625-8C>T rs778720628
NM_000540.2(RYR1):c.12639G>A (p.Lys4213=) rs778680515
NM_000540.2(RYR1):c.12786C>T (p.Asp4262=) rs372770916
NM_000540.2(RYR1):c.12869C>T (p.Ala4290Val) rs755065800
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.12897G>T (p.Ala4299=) rs1211886095
NM_000540.2(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350
NM_000540.2(RYR1):c.13035C>T (p.Ala4345=) rs898175740
NM_000540.2(RYR1):c.13092C>T (p.Gly4364=) rs536323867
NM_000540.2(RYR1):c.13191C>T (p.Ala4397=) rs543458339
NM_000540.2(RYR1):c.13197G>T (p.Pro4399=) rs773923211
NM_000540.2(RYR1):c.13254C>A (p.Gly4418=) rs193922857
NM_000540.2(RYR1):c.13263C>T (p.Asp4421=) rs372411922
NM_000540.2(RYR1):c.13341G>A (p.Arg4447=) rs375750351
NM_000540.2(RYR1):c.13350G>A (p.Gly4450=) rs748743312
NM_000540.2(RYR1):c.13473A>C (p.Pro4491=) rs770239842
NM_000540.2(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756
NM_000540.2(RYR1):c.13518C>G (p.Ala4506=) rs749640716
NM_000540.2(RYR1):c.13647G>A (p.Arg4549=) rs1555800818
NM_000540.2(RYR1):c.13735C>T (p.Leu4579=) rs934721165
NM_000540.2(RYR1):c.13773C>T (p.Asp4591=) rs111578044
NM_000540.2(RYR1):c.13847C>A (p.Ala4616Asp) rs59468283
NM_000540.2(RYR1):c.13863G>A (p.Glu4621=) rs140750876
NM_000540.2(RYR1):c.13948C>T (p.Leu4650=) rs1555801907
NM_000540.2(RYR1):c.14049G>A (p.Glu4683=) rs754600386
NM_000540.2(RYR1):c.14070G>A (p.Thr4690=) rs113058779
NM_000540.2(RYR1):c.14091C>T (p.Asp4697=) rs138616455
NM_000540.2(RYR1):c.14196C>A (p.Ile4732=) rs201670423
NM_000540.2(RYR1):c.14256_14257delinsCA (p.Ala4753Thr) rs1555803356
NM_000540.2(RYR1):c.14257G>A (p.Ala4753Thr) rs138156449
NM_000540.2(RYR1):c.14283G>A (p.Pro4761=) rs201157293
NM_000540.2(RYR1):c.14451C>T (p.Ile4817=) rs200442804
NM_000540.2(RYR1):c.14523C>T (p.Thr4841=) rs552223275
NM_000540.2(RYR1):c.14697G>A (p.Gly4899=) rs770698609
NM_000540.2(RYR1):c.14814C>T (p.Ile4938=) rs118192159
NM_000540.2(RYR1):c.14970-4T>G rs1555805790
NM_000540.2(RYR1):c.150C>G (p.Pro50=) rs554528443
NM_000540.2(RYR1):c.1577-4dup rs1555768357
NM_000540.2(RYR1):c.159C>T (p.Asn53=) rs780591516
NM_000540.2(RYR1):c.1746C>T (p.Ile582=) rs377489549
NM_000540.2(RYR1):c.177C>T (p.Pro59=) rs201938317
NM_000540.2(RYR1):c.1902A>G (p.Thr634=) rs751310164
NM_000540.2(RYR1):c.1909A>G (p.Ile637Val) rs567084532
NM_000540.2(RYR1):c.2091C>T (p.Ala697=) rs138704724
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.2139C>T (p.Tyr713=) rs761428539
NM_000540.2(RYR1):c.2268C>T (p.Phe756=) rs1555770357
NM_000540.2(RYR1):c.2325C>T (p.Leu775=) rs536224296
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.2373C>T (p.Leu791=) rs1555770813
NM_000540.2(RYR1):c.2544C>T (p.Thr848=) rs140374285
NM_000540.2(RYR1):c.2551G>A (p.Val851Met) rs375669412
NM_000540.2(RYR1):c.255G>T (p.Val85=) rs532101469
NM_000540.2(RYR1):c.2603G>A (p.Arg868His) rs750938678
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.270+10C>T rs775506842
NM_000540.2(RYR1):c.2712G>A (p.Pro904=) rs139339574
NM_000540.2(RYR1):c.2787-7C>T rs1486816697
NM_000540.2(RYR1):c.2797G>A (p.Ala933Thr) rs148623597
NM_000540.2(RYR1):c.288A>G (p.Gly96=) rs1015445310
NM_000540.2(RYR1):c.2937G>A (p.Ala979=) rs775442275
NM_000540.2(RYR1):c.3108C>A (p.Asp1036Glu) rs759317223
NM_000540.2(RYR1):c.3153C>T (p.Asn1051=) rs915828603
NM_000540.2(RYR1):c.3420C>G (p.Arg1140=) rs201599911
NM_000540.2(RYR1):c.3420C>T (p.Arg1140=) rs201599911
NM_000540.2(RYR1):c.3505A>C (p.Met1169Leu) rs139069946
NM_000540.2(RYR1):c.3567C>T (p.Pro1189=) rs200161205
NM_000540.2(RYR1):c.3666C>T (p.Phe1222=) rs781238780
NM_000540.2(RYR1):c.3669G>A (p.Glu1223=) rs1555774737
NM_000540.2(RYR1):c.3924G>A (p.Pro1308=) rs144350050
NM_000540.2(RYR1):c.3924G>C (p.Pro1308=) rs144350050
NM_000540.2(RYR1):c.4026C>A (p.Ser1342Arg) rs182004703
NM_000540.2(RYR1):c.4071C>A (p.Pro1357=) rs375709463
NM_000540.2(RYR1):c.4071C>T (p.Pro1357=) rs375709463
NM_000540.2(RYR1):c.4113G>C (p.Arg1371Ser) rs551509462
NM_000540.2(RYR1):c.4128G>A (p.Lys1376=) rs752177520
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4236C>T (p.His1412=) rs146206507
NM_000540.2(RYR1):c.4269C>T (p.Pro1423=) rs2229141
NM_000540.2(RYR1):c.4287C>T (p.Thr1429=) rs1020726350
NM_000540.2(RYR1):c.4294-4C>T rs368108496
NM_000540.2(RYR1):c.4677C>T (p.Asn1559=) rs186329476
NM_000540.2(RYR1):c.4710C>T (p.Asn1570=) rs763113534
NM_000540.2(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.2(RYR1):c.4902C>G (p.Thr1634=) rs377100871
NM_000540.2(RYR1):c.4980C>T (p.Arg1660=) rs374115286
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.5061C>T (p.His1687=) rs1287517085
NM_000540.2(RYR1):c.5322G>A (p.Pro1774=) rs572516017
NM_000540.2(RYR1):c.5334G>A (p.Ser1778=) rs35566549
NM_000540.2(RYR1):c.5364T>G (p.Ala1788=) rs200950362
NM_000540.2(RYR1):c.5628_5630GGA[2] (p.Glu1878del) rs371047178
NM_000540.2(RYR1):c.5637C>T (p.Asp1879=) rs143418190
NM_000540.2(RYR1):c.5940C>T (p.Leu1980=) rs1252221951
NM_000540.2(RYR1):c.6078G>A (p.Glu2026=) rs201310026
NM_000540.2(RYR1):c.6105T>C (p.His2035=) rs1555780574
NM_000540.2(RYR1):c.614G>C (p.Cys205Ser) rs201834803
NM_000540.2(RYR1):c.6150G>A (p.Glu2050=) rs727504131
NM_000540.2(RYR1):c.6302T>A (p.Met2101Lys) rs746818096
NM_000540.2(RYR1):c.6318C>A (p.Ala2106=) rs769443054
NM_000540.2(RYR1):c.6438G>A (p.Pro2146=) rs376809406
NM_000540.2(RYR1):c.6477C>T (p.Leu2159=) rs1159279103
NM_000540.2(RYR1):c.651C>T (p.His217=) rs762632406
NM_000540.2(RYR1):c.6546C>T (p.Ile2182=) rs768963605
NM_000540.2(RYR1):c.6549-9C>T rs370994573
NM_000540.2(RYR1):c.654C>T (p.Val218=) rs768361459
NM_000540.2(RYR1):c.6600G>A (p.Ala2200=) rs375640581
NM_000540.2(RYR1):c.6639C>T (p.Asn2213=) rs374630822
NM_000540.2(RYR1):c.6654C>T (p.Gly2218=) rs149185729
NM_000540.2(RYR1):c.6797-10_6797-9insT rs1555782381
NM_000540.2(RYR1):c.6797-9C>T rs191934693
NM_000540.2(RYR1):c.6856C>T (p.Leu2286=) rs369610397
NM_000540.2(RYR1):c.6864G>A (p.Leu2288=) rs776839307
NM_000540.2(RYR1):c.7027+9G>T rs752243108
NM_000540.2(RYR1):c.7071C>T (p.Leu2357=) rs1400420801
NM_000540.2(RYR1):c.7092C>T (p.Phe2364=) rs369456396
NM_000540.2(RYR1):c.725+6G>A rs201679831
NM_000540.2(RYR1):c.72C>T (p.Ser24=) rs754645461
NM_000540.2(RYR1):c.7482C>T (p.Phe2494=) rs201375572
NM_000540.2(RYR1):c.7536C>T (p.Ile2512=) rs368560744
NM_000540.2(RYR1):c.7560C>T (p.His2520=) rs749322590
NM_000540.2(RYR1):c.7653C>T (p.Asn2551=) rs201166038
NM_000540.2(RYR1):c.7725C>T (p.Arg2575=) rs1020398192
NM_000540.2(RYR1):c.7740C>T (p.Asp2580=) rs555791373
NM_000540.2(RYR1):c.7797G>A (p.Gln2599=) rs151309597
NM_000540.2(RYR1):c.7857G>C (p.Leu2619=) rs547048377
NM_000540.2(RYR1):c.7869G>A (p.Leu2623=) rs375632461
NM_000540.2(RYR1):c.7876C>T (p.Leu2626=) rs145446438
NM_000540.2(RYR1):c.7887C>T (p.Asp2629=) rs759821097
NM_000540.2(RYR1):c.7896C>A (p.Ile2632=) rs201090618
NM_000540.2(RYR1):c.7995G>C (p.Gly2665=) rs1555785096
NM_000540.2(RYR1):c.8049T>C (p.Phe2683=) rs1555785118
NM_000540.2(RYR1):c.8068-10G>A rs1555785219
NM_000540.2(RYR1):c.8082G>A (p.Glu2694=) rs745619519
NM_000540.2(RYR1):c.8085G>C (p.Leu2695=) rs139673296
NM_000540.2(RYR1):c.8112C>T (p.Cys2704=) rs763722972
NM_000540.2(RYR1):c.8142T>C (p.Tyr2714=) rs567352621
NM_000540.2(RYR1):c.8181C>T (p.Ala2727=) rs1047085632
NM_000540.2(RYR1):c.8232-5A>G rs1358554710
NM_000540.2(RYR1):c.8286A>C (p.Thr2762=) rs1555785322
NM_000540.2(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420
NM_000540.2(RYR1):c.8310+10A>G rs372730488
NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.2(RYR1):c.837C>G (p.Leu279=) rs1381396297
NM_000540.2(RYR1):c.8692+10C>T rs1197451799
NM_000540.2(RYR1):c.8880G>C (p.Leu2960=) rs763905757
NM_000540.2(RYR1):c.89A>T (p.Glu30Val) rs145771708
NM_000540.2(RYR1):c.9001-8G>A rs768611849
NM_000540.2(RYR1):c.9090C>T (p.His3030=) rs767704607
NM_000540.2(RYR1):c.9093C>T (p.Ala3031=) rs140197877
NM_000540.2(RYR1):c.9122+8G>A rs772116480
NM_000540.2(RYR1):c.9152G>A (p.Arg3051His) rs147303895
NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) rs147012990
NM_000540.2(RYR1):c.9261C>T (p.Ile3087=) rs56338790
NM_000540.2(RYR1):c.9262G>A (p.Val3088Met) rs145044872
NM_000540.2(RYR1):c.9309C>T (p.Ile3103=) rs773236495
NM_000540.2(RYR1):c.9348G>A (p.Ser3116=) rs763655831
NM_000540.2(RYR1):c.9353C>T (p.Ala3118Val) rs2915960
NM_000540.2(RYR1):c.9360C>T (p.Thr3120=) rs748400885
NM_000540.2(RYR1):c.9393C>T (p.Tyr3131=) rs753354701
NM_000540.2(RYR1):c.9456C>T (p.Phe3152=) rs369206584
NM_000540.2(RYR1):c.9465C>T (p.Asp3155=) rs777818383
NM_000540.2(RYR1):c.9555-10C>T rs774666035
NM_000540.2(RYR1):c.966G>A (p.Leu322=) rs764146470
NM_000540.2(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000540.2(RYR1):c.9960G>A (p.Leu3320=) rs1368894147

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