ClinVar Miner

List of variants in gene RYR1 reported as likely benign by Color Diagnostics, LLC DBA Color Health

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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00279
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00194
NM_000540.3(RYR1):c.9353C>T (p.Ala3118Val) rs2915960 0.00188
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00174
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00166
NM_000540.3(RYR1):c.2622G>A (p.Ala874=) rs149381996 0.00155
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr) rs148623597 0.00137
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
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.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000540.3(RYR1):c.4088C>T (p.Ala1363Val) rs774603798 0.00084
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.4677C>T (p.Asn1559=) rs186329476 0.00069
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.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00052
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu) rs139069946 0.00051
NM_000540.3(RYR1):c.7830C>T (p.Leu2610=) rs140063541 0.00049
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00047
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln) rs146793133 0.00042
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=) rs146617004 0.00040
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_000540.3(RYR1):c.10938-9C>T rs201976186 0.00034
NM_000540.3(RYR1):c.13863G>A (p.Glu4621=) rs140750876 0.00034
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=) rs145446438 0.00031
NM_000540.3(RYR1):c.1155C>T (p.Asp385=) rs144658230 0.00030
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=) rs200780880 0.00028
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00023
NM_000540.3(RYR1):c.2544C>T (p.Thr848=) rs140374285 0.00019
NM_000540.3(RYR1):c.3618C>T (p.Asp1206=) rs191970833 0.00019
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=) rs374630822 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_000540.3(RYR1):c.9886C>G (p.Leu3296Val) rs368433841 0.00019
NM_000540.3(RYR1):c.4294-4C>T rs368108496 0.00018
NM_000540.3(RYR1):c.9896G>T (p.Gly3299Val) rs376790408 0.00018
NM_000540.3(RYR1):c.5439G>A (p.Arg1813=) rs147424734 0.00017
NM_000540.3(RYR1):c.7836-7C>T rs370713261 0.00017
NM_000540.3(RYR1):c.14919G>A (p.Pro4973=) rs535386378 0.00016
NM_000540.3(RYR1):c.6797-9C>T rs191934693 0.00016
NM_000540.3(RYR1):c.10048C>A (p.Arg3350=) rs200355885 0.00014
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=) rs375402078 0.00014
NM_000540.3(RYR1):c.7362C>T (p.Arg2454=) rs369428665 0.00014
NM_000540.3(RYR1):c.9090C>T (p.His3030=) rs767704607 0.00014
NM_000540.3(RYR1):c.11517C>T (p.Ser3839=) rs151239950 0.00013
NM_000540.3(RYR1):c.4743C>T (p.Ser1581=) rs370041876 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=) rs56338790 0.00013
NM_000540.3(RYR1):c.5046C>T (p.His1682=) rs188554722 0.00011
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495 0.00010
NM_000540.3(RYR1):c.14670G>C (p.Val4890=) rs773080803 0.00010
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr) rs142474192 0.00010
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.2712G>A (p.Pro904=) rs139339574 0.00008
NM_000540.3(RYR1):c.4848G>A (p.Thr1616=) rs377664365 0.00008
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=) rs368684717 0.00008
NM_000540.3(RYR1):c.10260-12C>T rs779541890 0.00007
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=) rs536148030 0.00007
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser) rs551509462 0.00007
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 0.00007
NM_000540.3(RYR1):c.6892-11T>C rs138843395 0.00007
NM_000540.3(RYR1):c.13932G>T (p.Leu4644=) rs199698011 0.00006
NM_000540.3(RYR1):c.2844C>T (p.Asn948=) rs761045773 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.7028-11C>T rs369342449 0.00006
NM_000540.3(RYR1):c.7965C>T (p.Tyr2655=) rs372013629 0.00006
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=) rs201157293 0.00005
NM_000540.3(RYR1):c.2835G>A (p.Ala945=) rs576990255 0.00005
NM_000540.3(RYR1):c.3567C>T (p.Pro1189=) rs200161205 0.00005
NM_000540.3(RYR1):c.7092C>T (p.Phe2364=) rs369456396 0.00005
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=) rs369206584 0.00005
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=) rs371952058 0.00004
NM_000540.3(RYR1):c.6797-10G>A rs373459426 0.00004
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=) rs375997435 0.00004
NM_000540.3(RYR1):c.8142T>C (p.Tyr2714=) rs567352621 0.00004
NM_000540.3(RYR1):c.10767C>T (p.Pro3589=) rs771849776 0.00003
NM_000540.3(RYR1):c.1218C>T (p.Thr406=) rs3745846 0.00003
NM_000540.3(RYR1):c.1318G>A (p.Val440Ile) rs763251588 0.00003
NM_000540.3(RYR1):c.13485G>A (p.Pro4495=) rs554451286 0.00003
NM_000540.3(RYR1):c.14032C>T (p.Leu4678=) rs1301646256 0.00003
NM_000540.3(RYR1):c.546G>A (p.Ser182=) rs372660267 0.00003
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser) rs201834803 0.00003
NM_000540.3(RYR1):c.6813G>A (p.Thr2271=) rs147786842 0.00003
NM_000540.3(RYR1):c.7836-12A>G rs750768318 0.00003
NM_000540.3(RYR1):c.8820C>A (p.Gly2940=) rs951057994 0.00003
NM_000540.3(RYR1):c.9801G>A (p.Pro3267=) rs138263729 0.00003
NM_000540.3(RYR1):c.13545C>T (p.Pro4515=) rs1374723358 0.00002
NM_000540.3(RYR1):c.15022-5C>T rs776023275 0.00002
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=) rs569565316 0.00002
NM_000540.3(RYR1):c.48C>T (p.Asp16=) rs750329137 0.00002
NM_000540.3(RYR1):c.5934C>T (p.Gly1978=) rs904728007 0.00002
NM_000540.3(RYR1):c.858C>T (p.Thr286=) rs371674175 0.00002
NM_000540.3(RYR1):c.8817-7C>A rs748541593 0.00002
NM_000540.3(RYR1):c.9555-14G>A rs763353979 0.00002
NM_000540.3(RYR1):c.10525C>T (p.Leu3509=) rs1425243391 0.00001
NM_000540.3(RYR1):c.10530C>T (p.Ile3510=) rs760656697 0.00001
NM_000540.3(RYR1):c.1134C>T (p.His378=) rs754061854 0.00001
NM_000540.3(RYR1):c.12375A>G (p.Glu4125=) rs777577833 0.00001
NM_000540.3(RYR1):c.1440G>A (p.Glu480=) rs989350448 0.00001
NM_000540.3(RYR1):c.1577-5C>G rs778100574 0.00001
NM_000540.3(RYR1):c.255G>T (p.Val85=) rs532101469 0.00001
NM_000540.3(RYR1):c.3435C>T (p.Gly1145=) rs759402075 0.00001
NM_000540.3(RYR1):c.5193T>C (p.Ser1731=) rs767545697 0.00001
NM_000540.3(RYR1):c.6549-8G>A rs756593088 0.00001
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=) rs138617219 0.00001
NM_000540.3(RYR1):c.7071C>T (p.Leu2357=) rs1400420801 0.00001
NM_000540.3(RYR1):c.7599C>T (p.Ala2533=) rs770552982 0.00001
NM_000540.3(RYR1):c.10182G>A (p.Val3394=) rs374557070
NM_000540.3(RYR1):c.10263G>C (p.Ala3421=) rs778171066
NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met) rs200144997
NM_000540.3(RYR1):c.10825-11C>G
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000540.3(RYR1):c.11121C>T (p.Arg3707=) rs769727038
NM_000540.3(RYR1):c.111C>T (p.Ala37=) rs142909076
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu) rs145167688
NM_000540.3(RYR1):c.13896C>T (p.Phe4632=) rs2514712968
NM_000540.3(RYR1):c.14173-6G>C rs775047238
NM_000540.3(RYR1):c.14256_14257delinsCA (p.Ala4753Thr) rs1555803356
NM_000540.3(RYR1):c.1980A>G (p.Lys660=)
NM_000540.3(RYR1):c.2361-3C>T rs2514054258
NM_000540.3(RYR1):c.3069C>T (p.Tyr1023=) rs2145447251
NM_000540.3(RYR1):c.318C>A (p.Ile106=) rs1388550300
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=) rs2229141
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.6171C>T (p.Thr2057=) rs1197775066
NM_000540.3(RYR1):c.6738C>T (p.Asn2246=) rs1969832717
NM_000540.3(RYR1):c.7028-5G>A rs2514311708
NM_000540.3(RYR1):c.7324-9A>T rs1284710450
NM_000540.3(RYR1):c.7615-8C>T rs769486294
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=) rs148907377
NM_000540.3(RYR1):c.8016G>C (p.Leu2672=) rs1451060659
NM_000540.3(RYR1):c.933C>T (p.Thr311=) rs1292560494
NM_000540.3(RYR1):c.9473-11G>C rs1300602582

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