List of variants reported as benign for TPM2-related myopathy by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 103

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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_213674.1(TPM2):c.-137T>A	rs3793540	0.23673
NM_213674.1(TPM2):c.-136T>A	rs3793539	0.23669
NM_213674.1(TPM2):c.-135T>A	rs3793538	0.23661
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_003289.4(TPM2):c.*8G>A	rs56249943	0.06243
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.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.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.7737G>A (p.Val2579=)	rs114975624	0.00971
NM_001100.4(ACTA1):c.453C>A (p.Thr151=)	rs76030344	0.00904
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.906C>T (p.Asp302=)	rs145943283	0.00765
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.3326G>A (p.Arg1109Lys)	rs35719391	0.00619
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_152263.4(TPM3):c.*3497T>C	rs144544045	0.00465
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=)	rs78795178	0.00417
NM_152263.4(TPM3):c.*878A>G	rs116789181	0.00321
NM_001100.4(ACTA1):c.*248G>A	rs551585351	0.00167
NM_000540.3(RYR1):c.11141+7A>G	rs78350770	0.00140
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_001100.4(ACTA1):c.549G>A (p.Ala183=)	rs200094415	0.00027
NM_152263.4(TPM3):c.*1291A>G	rs375670563	0.00006
NM_003289.4(TPM2):c.374+9G>C	rs200730708	0.00004
NM_003289.4(TPM2):c.-65C>T	rs377242459	0.00003
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)	rs770931836	0.00001
NM_003289.4(TPM2):c.813C>T (p.Ser271=)	rs201215303	0.00001
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)	rs2229145
NM_000540.3(RYR1):c.14256A>C (p.Thr4752=)	rs1468571
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=)	rs1465698
NM_001100.4(ACTA1):c.453C>G (p.Thr151=)	rs76030344
NM_001100.4(ACTA1):c.809-14G>C	rs6673359
NM_003289.4(TPM2):c.*7C>T	rs79882576
NM_152263.4(TPM3):c.*1130C>T	rs143058197
NM_152263.4(TPM3):c.*1247dup	rs72189266

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