ClinVar Miner

Variants in gene RYR1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 159
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_000540.3(RYR1):c.12094+11A>G rs73933018 0.03267
NM_000540.3(RYR1):c.10937+39G>A rs2945049 0.03213
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=) rs35021937 0.02251
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02149
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_000540.3(RYR1):c.11260-19T>G rs4802583 0.02140
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_000540.3(RYR1):c.12624+14C>T rs75797287 0.01777
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_000540.3(RYR1):c.11625G>A (p.Ala3875=) rs61729397 0.00991
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00971
NM_000540.3(RYR1):c.4621-34C>T rs114935281 0.00879
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=) rs10405232 0.00800
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_000540.3(RYR1):c.6797-50A>G rs34812626 0.00775
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=) rs77310009 0.00694
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381 0.00685
NM_000540.3(RYR1):c.2577+25T>C rs78124022 0.00681
NM_000540.3(RYR1):c.3876C>A (p.Leu1292=) rs143750836 0.00681
NM_000540.3(RYR1):c.2168-30C>T rs73930586 0.00680
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_000540.3(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391 0.00619
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=) rs35480887 0.00607
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_000540.3(RYR1):c.6384C>T (p.Tyr2128=) rs75181912 0.00599
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_000540.3(RYR1):c.5037C>G (p.Arg1679=) rs34169029 0.00555
NM_000540.3(RYR1):c.8068-14C>T rs57376136 0.00554
NM_000540.3(RYR1):c.9771C>T (p.Ala3257=) rs75991872 0.00545
NM_000540.3(RYR1):c.2241G>A (p.Leu747=) rs34097444 0.00526
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00517
NM_000540.3(RYR1):c.10938-17A>G rs181147531 0.00513
NM_000540.3(RYR1):c.873G>A (p.Ala291=) rs2229140 0.00484
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198 0.00479
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
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.12588C>T (p.Ile4196=) rs61739895 0.00460
NM_000540.3(RYR1):c.11034+20G>T rs186460831 0.00456
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=) rs200451188 0.00422
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=) rs140004449 0.00422
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_000540.3(RYR1):c.8949T>C (p.Ser2983=) rs116537677 0.00415
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_000540.3(RYR1):c.1923C>G (p.Thr641=) rs116591968 0.00404
NM_000540.3(RYR1):c.6732G>A (p.Arg2244=) rs78915828 0.00390
NM_000540.3(RYR1):c.4071C>T (p.Pro1357=) rs375709463 0.00354
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=) rs2228074 0.00351
NM_000540.3(RYR1):c.10941C>G (p.His3647Gln) rs114351116 0.00347
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840 0.00325
NM_000540.3(RYR1):c.2415T>C (p.Pro805=) rs141881325 0.00319
NM_000540.3(RYR1):c.9685+16C>T rs45496799 0.00312
NM_000540.3(RYR1):c.425-19A>G rs193169917 0.00289
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000540.3(RYR1):c.11360-9T>A rs150187840 0.00260
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
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.958-11del rs537751969 0.00211
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.2677G>A (p.Gly893Ser) rs147336515 0.00202
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.297G>A (p.Thr99=) rs144241486 0.00186
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00180
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000540.3(RYR1):c.6612C>T (p.His2204=) rs141646642 0.00169
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000540.3(RYR1):c.2622G>A (p.Ala874=) rs149381996 0.00155
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_000540.3(RYR1):c.2919C>T (p.His973=) rs139363830 0.00140
NM_000540.3(RYR1):c.7836-17T>C rs142720065 0.00140
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr) rs148623597 0.00137
NM_000540.3(RYR1):c.7615-7G>A rs146159174 0.00133
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) rs142558977 0.00126
NM_000540.3(RYR1):c.-102C>T rs190259953 0.00121
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
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.14130-9T>G rs191894192 0.00088
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.10119G>A (p.Val3373=) rs140689610 0.00079
NM_000540.3(RYR1):c.4971C>T (p.Asp1657=) rs141107290 0.00078
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.11609-13C>T rs374885508 0.00069
NM_000540.3(RYR1):c.7020C>T (p.Phe2340=) rs199993301 0.00067
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_000540.3(RYR1):c.2682+7G>A rs201498416 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966 0.00053
NM_000540.3(RYR1):c.6387C>T (p.Asp2129=) rs117886618 0.00049
NM_000540.3(RYR1):c.7830C>T (p.Leu2610=) rs140063541 0.00046
NM_000540.3(RYR1):c.8816+16C>T rs181138438 0.00046
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00043
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3]) rs398123469 0.00039
NM_000540.3(RYR1):c.7788C>T (p.Thr2596=) rs199636890 0.00032
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857 0.00031
NM_000540.3(RYR1):c.6127+3A>G rs78851466 0.00031
NM_000540.3(RYR1):c.1123-11C>T rs3745845 0.00019
NM_000540.3(RYR1):c.3618C>T (p.Asp1206=) rs191970833 0.00019
NM_000540.3(RYR1):c.7881G>A (p.Val2627=) rs201877620 0.00018
NM_000540.3(RYR1):c.14061G>A (p.Leu4687=) rs201629205 0.00017
NM_000540.3(RYR1):c.14919G>A (p.Pro4973=) rs535386378 0.00016
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000540.3(RYR1):c.10441-10G>A rs200939091 0.00013
NM_000540.3(RYR1):c.2223C>T (p.Asp741=) rs150831055 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.13660-10T>C rs188836987 0.00012
NM_000540.3(RYR1):c.7835+16C>T rs547949606 0.00011
NM_000540.3(RYR1):c.4758G>A (p.Pro1586=) rs374222028 0.00010
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=) rs2229149 0.00009
NM_000540.3(RYR1):c.12847G>A (p.Glu4283Lys) rs794728692 0.00007
NM_000540.3(RYR1):c.10825-11C>A rs201114660 0.00006
NM_000540.3(RYR1):c.7614+16C>T rs557965577 0.00006
NM_000540.3(RYR1):c.10578G>A (p.Ala3526=) rs368360689 0.00003
NM_000540.3(RYR1):c.345+15G>A rs199755207 0.00003
NM_000540.3(RYR1):c.4764G>A (p.Pro1588=) rs531243171 0.00002
NM_000540.3(RYR1):c.13926C>T (p.Pro4642=) rs559685703 0.00001
NM_000540.3(RYR1):c.3766-6C>A rs748186239 0.00001
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.10259+10G>A rs187018043
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000540.3(RYR1):c.1123-9del rs775029935
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=) rs377664510
NM_000540.3(RYR1):c.14647-1447_14647-1446del rs1275854388
NM_000540.3(RYR1):c.2004C>T (p.Asp668=) rs78835441
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del) rs559371263
NM_000540.3(RYR1):c.6138A>G (p.Leu2046=) rs551228795
NM_000540.3(RYR1):c.631+39dup rs35018208
NM_000540.3(RYR1):c.7584C>G (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.8616+43G>C rs74481153
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339

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