ClinVar Miner

List of variants in gene RYR1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser) rs147336515 0.00202
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00166
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00110
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00107
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=) rs200950362 0.00068
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_000540.3(RYR1):c.9555-7C>G rs376790946 0.00060
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000540.3(RYR1):c.11439+9G>A rs369650355 0.00035
NM_000540.3(RYR1):c.10938-9C>T rs201976186 0.00034
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met) rs138325444 0.00031
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys) rs547608972 0.00026
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00025
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=) rs377282283 0.00022
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00021
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00019
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=) rs370350821 0.00018
NM_000540.3(RYR1):c.13263C>T (p.Asp4421=) rs372411922 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000540.3(RYR1):c.8289C>T (p.His2763=) rs145567931 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.9555G>C (p.Lys3185Asn) rs201080180 0.00013
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln) rs147515913 0.00012
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.5046C>T (p.His1682=) rs188554722 0.00011
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000540.3(RYR1):c.2786+20G>A rs71337552 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000540.3(RYR1):c.10824+8G>A rs374325589 0.00009
NM_000540.3(RYR1):c.15084T>C (p.Cys5028=) rs758735802 0.00009
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_000540.3(RYR1):c.12629A>G (p.Lys4210Arg) rs138932463 0.00007
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser) rs551509462 0.00007
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00007
NM_000540.3(RYR1):c.8904C>A (p.Asp2968Glu) rs759530203 0.00007
NM_000540.3(RYR1):c.9555-10C>T rs774666035 0.00007
NM_000540.3(RYR1):c.12878C>T (p.Ala4293Val) rs1223090052 0.00006
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) rs766887342 0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met) rs760235443 0.00006
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.11269A>G (p.Met3757Val) rs189249768 0.00005
NM_000540.3(RYR1):c.3071G>A (p.Arg1024His) rs148146893 0.00005
NM_000540.3(RYR1):c.4858G>A (p.Gly1620Ser) rs190382569 0.00005
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=) rs199828145 0.00005
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys) rs201276068 0.00005
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=) rs770132934 0.00004
NM_000540.3(RYR1):c.10577C>T (p.Ala3526Val) rs374061380 0.00004
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.2653C>T (p.Arg885Cys) rs775256033 0.00004
NM_000540.3(RYR1):c.3104G>A (p.Arg1035Gln) rs776414978 0.00004
NM_000540.3(RYR1):c.3208C>T (p.Arg1070Trp) rs368950468 0.00004
NM_000540.3(RYR1):c.4519C>T (p.Arg1507Trp) rs752736122 0.00004
NM_000540.3(RYR1):c.4657G>A (p.Val1553Ile) rs775732541 0.00004
NM_000540.3(RYR1):c.6192G>C (p.Met2064Ile) rs372066850 0.00004
NM_000540.3(RYR1):c.6385G>A (p.Asp2129Asn) rs772695891 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000540.3(RYR1):c.10347+19C>T rs1337925480 0.00003
NM_000540.3(RYR1):c.13069C>A (p.Leu4357Met) rs1236057233 0.00003
NM_000540.3(RYR1):c.14069C>T (p.Thr4690Met) rs1210054382 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.2365C>T (p.Arg789Trp) rs765445445 0.00003
NM_000540.3(RYR1):c.2781G>A (p.Thr927=) rs762155957 0.00003
NM_000540.3(RYR1):c.345+15G>A rs199755207 0.00003
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser) rs201834803 0.00003
NM_000540.3(RYR1):c.7210G>A (p.Glu2404Lys) rs111364296 0.00003
NM_000540.3(RYR1):c.9811G>A (p.Glu3271Lys) rs773026490 0.00003
NM_000540.3(RYR1):c.9895G>A (p.Gly3299Ser) rs372203483 0.00003
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp) rs538497899 0.00002
NM_000540.3(RYR1):c.10742G>A (p.Gly3581Asp) rs148130880 0.00002
NM_000540.3(RYR1):c.1204A>G (p.Met402Val) rs766763626 0.00002
NM_000540.3(RYR1):c.12322C>G (p.Gln4108Glu) rs774414325 0.00002
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys) rs748844266 0.00002
NM_000540.3(RYR1):c.14601C>T (p.Ser4867=) rs370469515 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.2045G>A (p.Arg682Gln) rs372513400 0.00002
NM_000540.3(RYR1):c.2116G>A (p.Val706Ile) rs141717554 0.00002
NM_000540.3(RYR1):c.2203C>T (p.His735Tyr) rs771629253 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.341G>A (p.Arg114His) rs574357386 0.00002
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 0.00002
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=) rs763113534 0.00002
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=) rs374115286 0.00002
NM_000540.3(RYR1):c.49G>A (p.Asp17Asn) rs755878800 0.00002
NM_000540.3(RYR1):c.6247G>A (p.Glu2083Lys) rs1472353338 0.00002
NM_000540.3(RYR1):c.6352C>T (p.Arg2118Trp) rs148660840 0.00002
NM_000540.3(RYR1):c.6547G>A (p.Gly2183Arg) rs774275648 0.00002
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val) rs193922791 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00002
NM_000540.3(RYR1):c.7778G>A (p.Arg2593His) rs751180702 0.00002
NM_000540.3(RYR1):c.9555-14G>A rs763353979 0.00002
NM_000540.3(RYR1):c.10681G>A (p.Gly3561Arg) rs771320029 0.00001
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln) rs113332073 0.00001
NM_000540.3(RYR1):c.11062G>A (p.Glu3688Lys) rs1471770778 0.00001
NM_000540.3(RYR1):c.11259+17G>A rs765356654 0.00001
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) rs794727946 0.00001
NM_000540.3(RYR1):c.12121C>T (p.Arg4041Trp) rs144685735 0.00001
NM_000540.3(RYR1):c.12836C>T (p.Ala4279Val) rs1170708792 0.00001
NM_000540.3(RYR1):c.13867G>A (p.Asp4623Asn) rs547709829 0.00001
NM_000540.3(RYR1):c.1440G>A (p.Glu480=) rs989350448 0.00001
NM_000540.3(RYR1):c.14913G>A (p.Thr4971=) rs376180682 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys) rs193922768 0.00001
NM_000540.3(RYR1):c.1690T>C (p.Tyr564His) rs767862786 0.00001
NM_000540.3(RYR1):c.1739A>G (p.Asn580Ser) rs373301841 0.00001
NM_000540.3(RYR1):c.1931G>A (p.Arg644His) rs766150328 0.00001
NM_000540.3(RYR1):c.2180G>A (p.Arg727His) rs372460800 0.00001
NM_000540.3(RYR1):c.2537C>T (p.Ser846Leu) rs193922775 0.00001
NM_000540.3(RYR1):c.2870+3G>A rs1314195050 0.00001
NM_000540.3(RYR1):c.2924G>A (p.Arg975Gln) rs778241277 0.00001
NM_000540.3(RYR1):c.3014G>A (p.Ser1005Asn) rs780145264 0.00001
NM_000540.3(RYR1):c.3253G>A (p.Gly1085Ser) rs752849270 0.00001
NM_000540.3(RYR1):c.328C>T (p.His110Tyr) rs767777113 0.00001
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys) rs756138074 0.00001
NM_000540.3(RYR1):c.4111A>T (p.Arg1371Trp) rs1310955101 0.00001
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=) rs200600174 0.00001
NM_000540.3(RYR1):c.4777C>T (p.Arg1593Trp) rs1229854214 0.00001
NM_000540.3(RYR1):c.4958C>T (p.Ser1653Leu) rs1043661945 0.00001
NM_000540.3(RYR1):c.5033A>G (p.Asn1678Ser) rs781104539 0.00001
NM_000540.3(RYR1):c.6065C>G (p.Pro2022Arg) rs1969512996 0.00001
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met) rs776830747 0.00001
NM_000540.3(RYR1):c.6489C>A (p.Arg2163=) rs756043021 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.6797-7C>T rs994688451 0.00001
NM_000540.3(RYR1):c.6989G>A (p.Arg2330His) rs774118116 0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513 0.00001
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln) rs1387126664 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.7446T>C (p.Asp2482=) rs374058542 0.00001
NM_000540.3(RYR1):c.7757T>A (p.Val2586Glu) rs577314143 0.00001
NM_000540.3(RYR1):c.7760A>G (p.Tyr2587Cys) rs767553612 0.00001
NM_000540.3(RYR1):c.7765C>T (p.Leu2589=) rs754819451 0.00001
NM_000540.3(RYR1):c.8291A>G (p.Glu2764Gly) rs1403616422 0.00001
NM_000540.3(RYR1):c.839G>A (p.Arg280Gln) rs1319877486 0.00001
NM_000540.3(RYR1):c.8616+15C>T rs560218459 0.00001
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys) rs112772310 0.00001
NM_000540.3(RYR1):c.880G>A (p.Glu294Lys) rs779597449 0.00001
NM_000540.3(RYR1):c.9001-2A>G rs774119942 0.00001
NM_000540.3(RYR1):c.9234-13G>A rs141299670 0.00001
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu) rs762652935 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_000540.3(RYR1):c.9649T>C (p.Ser3217Pro) rs113422327 0.00001
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln) rs755875230 0.00001
NM_000540.3(RYR1):c.10000T>C (p.Trp3334Arg)
NM_000540.3(RYR1):c.10347+16_10347+22del rs2514462973
NM_000540.3(RYR1):c.10690G>A (p.Glu3564Lys)
NM_000540.3(RYR1):c.10793A>T (p.Glu3598Val)
NM_000540.3(RYR1):c.11132C>T (p.Thr3711Met) rs375915752
NM_000540.3(RYR1):c.1123-9del rs775029935
NM_000540.3(RYR1):c.11516+9G>A rs370432370
NM_000540.3(RYR1):c.11671dup (p.Cys3891fs)
NM_000540.3(RYR1):c.11779-11G>A rs1972293898
NM_000540.3(RYR1):c.12013-18C>A rs377516769
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.12394C>G (p.Gln4132Glu) rs1317236359
NM_000540.3(RYR1):c.12473G>A (p.Arg4158His) rs2514653381
NM_000540.3(RYR1):c.12499G>A (p.Glu4167Lys) rs772494345
NM_000540.3(RYR1):c.12553G>T (p.Ala4185Ser)
NM_000540.3(RYR1):c.12563G>A (p.Arg4188His) rs749890987
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13153G>T (p.Asp4385Tyr) rs1227202568
NM_000540.3(RYR1):c.13244_13264del (p.Ala4415_Asp4421del) rs763413580
NM_000540.3(RYR1):c.13244_13264dup (p.Ala4415_Asp4421dup) rs763413580
NM_000540.3(RYR1):c.13408G>A (p.Gly4470Ser) rs2514682424
NM_000540.3(RYR1):c.13462C>T (p.Pro4488Ser)
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13694T>G (p.Phe4565Cys) rs764410690
NM_000540.3(RYR1):c.13747-13G>A rs2514711889
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala) rs118192166
NM_000540.3(RYR1):c.14051T>C (p.Phe4684Ser) rs193922864
NM_000540.3(RYR1):c.14282C>T (p.Pro4761Leu) rs373919284
NM_000540.3(RYR1):c.14616_14621dup (p.Glu4872_Pro4873dup) rs1555804000
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.3(RYR1):c.14752G>A (p.Asp4918Asn) rs1469916243
NM_000540.3(RYR1):c.14763C>G (p.Phe4921Leu) rs1974410266
NM_000540.3(RYR1):c.14803+3C>A
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val) rs2145917369
NM_000540.3(RYR1):c.14904C>A (p.Tyr4968Ter) rs2145918040
NM_000540.3(RYR1):c.1577-6C>A rs61586345
NM_000540.3(RYR1):c.178G>C (p.Asp60His) rs118192160
NM_000540.3(RYR1):c.1931G>T (p.Arg644Leu)
NM_000540.3(RYR1):c.2004C>A (p.Asp668Glu) rs78835441
NM_000540.3(RYR1):c.2331C>G (p.Phe777Leu) rs1210759640
NM_000540.3(RYR1):c.2462A>G (p.His821Arg)
NM_000540.3(RYR1):c.2495G>A (p.Gly832Glu) rs2145418857
NM_000540.3(RYR1):c.2511C>A (p.His837Gln) rs990397571
NM_000540.3(RYR1):c.2648T>C (p.Leu883Pro) rs369665716
NM_000540.3(RYR1):c.2836G>T (p.Glu946Ter) rs1967997615
NM_000540.3(RYR1):c.3021C>G (p.Ser1007Arg) rs143891703
NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter) rs759085500
NM_000540.3(RYR1):c.3094C>T (p.Arg1032Cys) rs374477216
NM_000540.3(RYR1):c.3268G>C (p.Glu1090Gln) rs944826130
NM_000540.3(RYR1):c.3527C>T (p.Thr1176Ile) rs549201486
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.3(RYR1):c.4204C>T (p.Pro1402Ser)
NM_000540.3(RYR1):c.4455-7C>T rs776234351
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.4861G>A (p.Glu1621Lys) rs1398897130
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.3(RYR1):c.5547+10T>C
NM_000540.3(RYR1):c.5617G>A (p.Glu1873Lys) rs2514245543
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.5688GGA[1] (p.Glu1898del) rs772076294
NM_000540.3(RYR1):c.58G>A (p.Val20Ile) rs913061393
NM_000540.3(RYR1):c.5910G>C (p.Gln1970His) rs1555780327
NM_000540.3(RYR1):c.6128-11A>G
NM_000540.3(RYR1):c.643G>T (p.Gly215Ter) rs1393197844
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.3(RYR1):c.661C>T (p.Leu221Phe) rs1568438505
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg) rs1969830618
NM_000540.3(RYR1):c.6883C>G (p.Leu2295Val)
NM_000540.3(RYR1):c.6897G>C (p.Val2299=) rs767454302
NM_000540.3(RYR1):c.6952T>C (p.Tyr2318His) rs2514308414
NM_000540.3(RYR1):c.737A>T (p.Tyr246Phe) rs923613797
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp) rs1801086
NM_000540.3(RYR1):c.7715C>T (p.Thr2572Ile) rs770314263
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs) rs1281875506
NM_000540.3(RYR1):c.7777C>G (p.Arg2593Gly) rs756685891
NM_000540.3(RYR1):c.7810G>A (p.Glu2604Lys) rs780383832
NM_000540.3(RYR1):c.7817G>A (p.Cys2606Tyr) rs1358912817
NM_000540.3(RYR1):c.7835+12C>G rs755502084
NM_000540.3(RYR1):c.7835+4_7835+5insGGCGG rs768070268
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly) rs747337318
NM_000540.3(RYR1):c.8026C>G (p.Arg2676Gly)
NM_000540.3(RYR1):c.8068-4C>A rs2514354103
NM_000540.3(RYR1):c.897G>A (p.Val299=) rs76854339
NM_000540.3(RYR1):c.9168_9169del (p.Phe3057fs) rs1555787058
NM_000540.3(RYR1):c.9233+3A>G rs1555787274
NM_000540.3(RYR1):c.9473-3C>T rs923899613
NM_000540.3(RYR1):c.947G>A (p.Arg316His) rs193922761
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys) rs367543057

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