ClinVar Miner

List of variants reported as benign for RYR1-related myopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1077T>C (p.Ala359=) rs10406027 0.90489
NM_000540.3(RYR1):c.1668G>A (p.Ser556=) rs2288888 0.64200
NM_001100.4(ACTA1):c.-65T>C rs605430 0.63378
NM_001100.4(ACTA1):c.-66C>T rs605428 0.63361
NM_000540.3(RYR1):c.2286C>T (p.Pro762=) rs3745847 0.62871
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_000540.3(RYR1):c.2943G>A (p.Thr981=) rs2228069 0.60233
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_000540.3(RYR1):c.3456C>T (p.Ile1152=) rs11083462 0.38131
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_152263.4(TPM3):c.*2185C>T rs10908723 0.31228
NM_152263.4(TPM3):c.*4968A>G rs4446955 0.30357
NM_152263.4(TPM3):c.*1032T>G rs6673171 0.29627
NM_152263.4(TPM3):c.*5856T>G rs3196889 0.29506
NM_001100.4(ACTA1):c.130-5T>C rs11803533 0.26938
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_000540.3(RYR1):c.2979C>T (p.Asn993=) rs2228070 0.19758
NM_000540.3(RYR1):c.4161-6T>C rs55845760 0.19230
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=) rs1469698 0.17268
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_152263.4(TPM3):c.*2719G>A rs11265201 0.14345
NM_152263.4(TPM3):c.*2565G>A rs6661996 0.14338
NM_152263.4(TPM3):c.*2784C>T rs9628669 0.14320
NM_152263.4(TPM3):c.*3822G>T rs12063890 0.13205
NM_152263.4(TPM3):c.*2211A>C rs6672584 0.12577
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_000540.3(RYR1):c.7500G>A (p.Ala2500=) rs2228072 0.09736
NM_000540.3(RYR1):c.7527G>A (p.Val2509=) rs2071088 0.08780
NM_000540.3(RYR1):c.6039A>G (p.Lys2013=) rs2228068 0.07074
NM_000540.3(RYR1):c.5334G>T (p.Ser1778=) rs35566549 0.06569
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_000540.3(RYR1):c.9690G>A (p.Leu3230=) rs2304151 0.05835
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374 0.04719
NM_000540.3(RYR1):c.4024A>G (p.Ser1342Gly) rs34694816 0.04715
NM_000540.3(RYR1):c.3858T>C (p.Leu1286=) rs16972636 0.04660
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000540.3(RYR1):c.10687-10C>T rs77592501 0.04475
NM_000540.3(RYR1):c.-108T>C rs4632259 0.04408
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_000540.3(RYR1):c.10218C>T (p.Tyr3406=) rs41274330 0.03876
NM_000540.3(RYR1):c.12094+11A>G rs73933018 0.03267
NM_000540.3(RYR1):c.9555-13C>T rs2960328 0.03214
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.5112C>T (p.Gly1704=) rs35352076 0.02832
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.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_001100.4(ACTA1):c.996C>A (p.Ile332=) rs74897770 0.01920
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_152263.4(TPM3):c.*2409G>C rs142369480 0.01426
NM_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_152263.4(TPM3):c.*1791G>A rs114799756 0.01222
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_001100.4(ACTA1):c.453C>A (p.Thr151=) rs76030344 0.00904
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_152263.4(TPM3):c.*4062G>A rs140590273 0.00864
NM_152263.4(TPM3):c.*5149G>A rs78002555 0.00816
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
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.3876C>A (p.Leu1292=) rs143750836 0.00681
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_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_152263.4(TPM3):c.*2069C>T rs140536164 0.00588
NM_152263.4(TPM3):c.*4154C>T rs145053113 0.00572
NM_000540.3(RYR1):c.8068-14C>T rs57376136 0.00554
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00517
NM_000540.3(RYR1):c.873G>A (p.Ala291=) rs2229140 0.00484
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=) rs142610625 0.00467
NM_152263.4(TPM3):c.*3497T>C rs144544045 0.00465
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.3042G>A (p.Ala1014=) rs2228074 0.00351
NM_152263.4(TPM3):c.*878A>G rs116789181 0.00321
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00272
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_001100.4(ACTA1):c.*248G>A rs551585351 0.00167
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_000540.3(RYR1):c.-102C>T rs190259953 0.00121
NM_001100.4(ACTA1):c.132C>T (p.Gly44=) rs146956806 0.00066
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=) rs142311664 0.00050
NM_001100.4(ACTA1):c.786G>C (p.Thr262=) rs141030526 0.00034
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_001100.4(ACTA1):c.549G>A (p.Ala183=) rs200094415 0.00027
NM_000540.3(RYR1):c.4758G>A (p.Pro1586=) rs374222028 0.00010
NM_152263.4(TPM3):c.*1291A>G rs375670563 0.00006
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) rs770931836 0.00001
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.14256A>C (p.Thr4752=) rs1468571
NM_000540.3(RYR1):c.2004C>T (p.Asp668=) rs78835441
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
NM_001100.4(ACTA1):c.453C>G (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.809-14G>C rs6673359
NM_152263.4(TPM3):c.*1130C>T rs143058197
NM_152263.4(TPM3):c.*1247dup rs72189266

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