ClinVar Miner

List of variants in gene RYR1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_000540.3(RYR1):c.10938-17A>G rs181147531 0.00513
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198 0.00479
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=) rs142610625 0.00467
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=) rs140004449 0.00422
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_000540.3(RYR1):c.3946C>A (p.Pro1316Thr) rs200894780 0.00386
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=) rs2228074 0.00351
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_000540.3(RYR1):c.2415T>C (p.Pro805=) rs141881325 0.00319
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_000540.3(RYR1):c.12869C>T (p.Ala4290Val) rs755065800 0.00298
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000540.3(RYR1):c.14130-8C>G rs140808099 0.00242
NM_000540.3(RYR1):c.216G>T (p.Leu72=) rs113389877 0.00227
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00206
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00197
NM_000540.3(RYR1):c.3557-6C>T rs139849689 0.00196
NM_000540.3(RYR1):c.9353C>T (p.Ala3118Val) rs2915960 0.00188
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00180
NM_000540.3(RYR1):c.6612C>T (p.His2204=) rs141646642 0.00169
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000540.3(RYR1):c.2919C>T (p.His973=) rs139363830 0.00140
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.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000540.3(RYR1):c.4088C>T (p.Ala1363Val) rs774603798 0.00084
NM_000540.3(RYR1):c.7860G>A (p.Gln2620=) rs147587000 0.00081
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=) rs368560744 0.00080
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.5364T>G (p.Ala1788=) rs200950362 0.00073
NM_000540.3(RYR1):c.9555-7C>G rs376790946 0.00061
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00057
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966 0.00053
NM_000540.3(RYR1):c.7830C>T (p.Leu2610=) rs140063541 0.00046
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00043
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=) rs146617004 0.00043
NM_000540.3(RYR1):c.13863G>A (p.Glu4621=) rs140750876 0.00036
NM_000540.3(RYR1):c.2658C>T (p.Ile886=) rs148094797 0.00035
NM_000540.3(RYR1):c.7788C>T (p.Thr2596=) rs199636890 0.00032
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=) rs145446438 0.00031
NM_000540.3(RYR1):c.14091C>T (p.Asp4697=) rs138616455 0.00030
NM_000540.3(RYR1):c.2634C>T (p.His878=) rs202233201 0.00030
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=) rs200780880 0.00029
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=) rs149471411 0.00029
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00024
NM_000540.3(RYR1):c.4878C>G (p.Ala1626=) rs369466056 0.00022
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=) rs374630822 0.00022
NM_000540.3(RYR1):c.7797G>A (p.Gln2599=) rs151309597 0.00019
NM_000540.3(RYR1):c.4294-4C>T rs368108496 0.00018
NM_000540.3(RYR1):c.2904G>A (p.Pro968=) rs146651758 0.00017
NM_000540.3(RYR1):c.7836-7C>T rs370713261 0.00017
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00016
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu) rs201588259 0.00016
NM_000540.3(RYR1):c.10048C>A (p.Arg3350=) rs200355885 0.00014
NM_000540.3(RYR1):c.7362C>T (p.Arg2454=) rs369428665 0.00014
NM_000540.3(RYR1):c.10281G>A (p.Pro3427=) rs549379396 0.00011
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=) rs202160739 0.00011
NM_000540.3(RYR1):c.11691T>C (p.Asp3897=) rs201588544 0.00010
NM_000540.3(RYR1):c.12672C>T (p.Gly4224=) rs141678912 0.00009
NM_000540.3(RYR1):c.15084T>C (p.Cys5028=) rs758735802 0.00009
NM_000540.3(RYR1):c.2712G>A (p.Pro904=) rs139339574 0.00008
NM_000540.3(RYR1):c.4848G>A (p.Thr1616=) rs377664365 0.00008
NM_000540.3(RYR1):c.9093C>T (p.Ala3031=) rs140197877 0.00008
NM_000540.3(RYR1):c.1800C>T (p.Asp600=) rs374489703 0.00007
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=) rs143418190 0.00007
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 0.00006
NM_000540.3(RYR1):c.14451C>T (p.Ile4817=) rs200442804 0.00006
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile) rs369281291 0.00006
NM_000540.3(RYR1):c.3951C>T (p.Pro1317=) rs745447236 0.00006
NM_000540.3(RYR1):c.7344T>C (p.Gly2448=) rs199813873 0.00006
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=) rs201157293 0.00005
NM_000540.3(RYR1):c.1956G>A (p.Ala652=) rs202105428 0.00005
NM_000540.3(RYR1):c.2835G>A (p.Ala945=) rs576990255 0.00005
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=) rs369206584 0.00005
NM_000540.3(RYR1):c.10308G>A (p.Arg3436=) rs765853789 0.00004
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=) rs371952058 0.00004
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=) rs763954439 0.00004
NM_000540.3(RYR1):c.14700C>T (p.Asp4900=) rs759063883 0.00004
NM_000540.3(RYR1):c.3144C>T (p.Tyr1048=) rs143242075 0.00004
NM_000540.3(RYR1):c.5064A>T (p.Val1688=) rs373673924 0.00004
NM_000540.3(RYR1):c.6444C>T (p.Ser2148=) rs200381338 0.00004
NM_000540.3(RYR1):c.7653C>T (p.Asn2551=) rs201166038 0.00004
NM_000540.3(RYR1):c.8142T>C (p.Tyr2714=) rs567352621 0.00004
NM_000540.3(RYR1):c.8277G>A (p.Ala2759=) rs375159951 0.00004
NM_000540.3(RYR1):c.10293G>A (p.Ala3431=) rs750009828 0.00003
NM_000540.3(RYR1):c.10578G>A (p.Ala3526=) rs368360689 0.00003
NM_000540.3(RYR1):c.13197G>T (p.Pro4399=) rs773923211 0.00003
NM_000540.3(RYR1):c.159C>T (p.Asn53=) rs780591516 0.00003
NM_000540.3(RYR1):c.2112C>T (p.Asn704=) rs770809214 0.00003
NM_000540.3(RYR1):c.2781G>A (p.Thr927=) rs762155957 0.00003
NM_000540.3(RYR1):c.417C>T (p.Asp139=) rs140004993 0.00003
NM_000540.3(RYR1):c.546G>A (p.Ser182=) rs372660267 0.00003
NM_000540.3(RYR1):c.9612G>A (p.Ala3204=) rs748122408 0.00003
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=) rs774663618 0.00002
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys) rs748844266 0.00002
NM_000540.3(RYR1):c.3093G>A (p.Lys1031=) rs748021486 0.00002
NM_000540.3(RYR1):c.3522C>T (p.Ser1174=) rs559858324 0.00002
NM_000540.3(RYR1):c.3891C>T (p.His1297=) rs371462309 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.6516C>G (p.Pro2172=) rs781750510 0.00002
NM_000540.3(RYR1):c.6789C>T (p.Ile2263=) rs112051106 0.00002
NM_000540.3(RYR1):c.7434C>G (p.Thr2478=) rs747434152 0.00002
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=) rs375997435 0.00002
NM_000540.3(RYR1):c.10023C>T (p.Phe3341=) rs753154402 0.00001
NM_000540.3(RYR1):c.1020C>T (p.Tyr340=) rs778349211 0.00001
NM_000540.3(RYR1):c.10467G>A (p.Ser3489=) rs751798987 0.00001
NM_000540.3(RYR1):c.10530C>T (p.Ile3510=) rs760656697 0.00001
NM_000540.3(RYR1):c.11260-5C>T rs747319417 0.00001
NM_000540.3(RYR1):c.12108C>T (p.Asn4036=) rs189263702 0.00001
NM_000540.3(RYR1):c.12603C>T (p.Arg4201=) rs1273187654 0.00001
NM_000540.3(RYR1):c.12625-8C>T rs778720628 0.00001
NM_000540.3(RYR1):c.13062G>A (p.Ala4354=) rs1285864293 0.00001
NM_000540.3(RYR1):c.13512C>T (p.Ala4504=) rs376229195 0.00001
NM_000540.3(RYR1):c.13740T>C (p.Phe4580=) rs1396114452 0.00001
NM_000540.3(RYR1):c.13989T>C (p.Asn4663=) rs1414465486 0.00001
NM_000540.3(RYR1):c.14163C>G (p.Val4721=) rs948958857 0.00001
NM_000540.3(RYR1):c.14628G>A (p.Lys4876=) rs1395234830 0.00001
NM_000540.3(RYR1):c.14913G>A (p.Thr4971=) rs376180682 0.00001
NM_000540.3(RYR1):c.14940G>A (p.Thr4980=) rs765570755 0.00001
NM_000540.3(RYR1):c.2688G>A (p.Arg896=) rs756136148 0.00001
NM_000540.3(RYR1):c.282C>T (p.Gly94=) rs139629035 0.00001
NM_000540.3(RYR1):c.6016-5C>G rs369996114 0.00001
NM_000540.3(RYR1):c.6330C>T (p.Phe2110=) rs990514054 0.00001
NM_000540.3(RYR1):c.7599C>T (p.Ala2533=) rs770552982 0.00001
NM_000540.3(RYR1):c.798C>T (p.Ile266=) rs764527957 0.00001
NM_000540.3(RYR1):c.8802C>T (p.Gly2934=) rs1568514231 0.00001
NM_000540.3(RYR1):c.8841C>T (p.Asp2947=) rs200982346 0.00001
NM_000540.3(RYR1):c.9819G>A (p.Thr3273=) rs766177670 0.00001
NM_000540.3(RYR1):c.1008T>G (p.Pro336=) rs1600656795
NM_000540.3(RYR1):c.10263G>C (p.Ala3421=) rs778171066
NM_000540.3(RYR1):c.10623C>T (p.Ala3541=)
NM_000540.3(RYR1):c.10689C>T (p.Val3563=)
NM_000540.3(RYR1):c.11541G>A (p.Glu3847=) rs1386408853
NM_000540.3(RYR1):c.11646C>T (p.Asp3882=)
NM_000540.3(RYR1):c.11829A>G (p.Glu3943=)
NM_000540.3(RYR1):c.12033G>A (p.Leu4011=) rs1972429720
NM_000540.3(RYR1):c.12852CACGGCGGC[1] (p.4285TAA[1]) rs398123469
NM_000540.3(RYR1):c.12876G>C (p.Gly4292=) rs1973343918
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) rs794727985
NM_000540.3(RYR1):c.1311C>T (p.Ile437=) rs777029846
NM_000540.3(RYR1):c.13356C>G (p.Gly4452=) rs1228185652
NM_000540.3(RYR1):c.13388C>T (p.Ala4463Val) rs1350916629
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13566C>T (p.Pro4522=)
NM_000540.3(RYR1):c.1408C>T (p.Leu470=)
NM_000540.3(RYR1):c.14130-19TC[5] rs750824483
NM_000540.3(RYR1):c.14487C>T (p.Ser4829=)
NM_000540.3(RYR1):c.2214C>G (p.Ala738=) rs772739422
NM_000540.3(RYR1):c.2787G>A (p.Lys929=)
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.3702C>T (p.Thr1234=) rs1600720232
NM_000540.3(RYR1):c.3924G>T (p.Pro1308=)
NM_000540.3(RYR1):c.4065C>T (p.Gly1355=)
NM_000540.3(RYR1):c.4215C>T (p.Pro1405=) rs752410805
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=) rs2229141
NM_000540.3(RYR1):c.4680C>T (p.Val1560=) rs1286297212
NM_000540.3(RYR1):c.4728C>T (p.Ala1576=)
NM_000540.3(RYR1):c.5334G>A (p.Ser1778=) rs35566549
NM_000540.3(RYR1):c.5352C>T (p.Ala1784=) rs373382967
NM_000540.3(RYR1):c.561G>A (p.Glu187=) rs1016333794
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del) rs559371263
NM_000540.3(RYR1):c.5748G>A (p.Gly1916=)
NM_000540.3(RYR1):c.6264G>A (p.Glu2088=)
NM_000540.3(RYR1):c.6391C>T (p.Leu2131=)
NM_000540.3(RYR1):c.6408T>C (p.Arg2136=)
NM_000540.3(RYR1):c.6730C>A (p.Arg2244=)
NM_000540.3(RYR1):c.7275C>T (p.Phe2425=)
NM_000540.3(RYR1):c.7584C>G (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.7647G>A (p.Ala2549=) rs547811862
NM_000540.3(RYR1):c.7725C>T (p.Arg2575=) rs1020398192
NM_000540.3(RYR1):c.7835+4_7835+5insGGCGG
NM_000540.3(RYR1):c.7836-6C>T rs780269941
NM_000540.3(RYR1):c.816C>T (p.His272=)
NM_000540.3(RYR1):c.8733C>T (p.Leu2911=) rs200427576
NM_000540.3(RYR1):c.8816+3A>G
NM_000540.3(RYR1):c.8932+4C>T
NM_000540.3(RYR1):c.897G>A (p.Val299=) rs76854339
NM_000540.3(RYR1):c.9216C>A (p.Ala3072=) rs1361441570
NM_000540.3(RYR1):c.9309C>T (p.Ile3103=) rs773236495
NM_000540.3(RYR1):c.9393C>T (p.Tyr3131=) rs753354701
NM_000540.3(RYR1):c.9585C>T (p.Ala3195=) rs1970955862
NM_000540.3(RYR1):c.9651C>T (p.Ser3217=) rs370457617
NM_000540.3(RYR1):c.9708G>A (p.Val3236=)
NM_000540.3(RYR1):c.9777A>G (p.Ser3259=) rs1600890512
NM_000540.3(RYR1):c.9789C>T (p.Tyr3263=) rs372613003
NM_000540.3(RYR1):c.9831A>G (p.Leu3277=) rs1396803935
NM_000540.3(RYR1):c.9969C>T (p.Ile3323=) rs763503192

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