ClinVar Miner

List of variants reported as benign for TPM2-related myopathy

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 98
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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.1441-24T>C rs7254832 0.90133
NM_000540.3(RYR1):c.1668G>A (p.Ser556=) rs2288888 0.64200
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.7926+28A>G rs1469699 0.34603
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.8816+17T>A rs2915959 0.32203
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_000540.3(RYR1):c.8400+28A>G rs2915953 0.32146
NM_000540.3(RYR1):c.8816+43A>C rs2960346 0.32141
NM_000540.3(RYR1):c.8541+37T>G rs2960343 0.31600
NM_000540.3(RYR1):c.8617-35C>T rs2960344 0.31588
NM_000540.3(RYR1):c.8692+28T>G rs2960345 0.31541
NM_000540.3(RYR1):c.8541+34C>T rs2960342 0.31072
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_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_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_032279.4(ATP13A4):c.1938A>T (p.Glu646Asp) rs35424709 0.07775
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_000540.3(RYR1):c.12624+14C>T rs75797287 0.01777
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_058172.6(ANTXR2):c.225-4G>A rs141355689 0.01410
NM_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00971
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
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.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381 0.00685
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_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
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.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_000540.3(RYR1):c.11034+20G>T rs186460831 0.00456
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_003289.4(TPM2):c.374+9G>C rs200730708 0.00004
NM_003289.4(TPM2):c.-65C>T rs377242459 0.00003
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.1672+29G>C rs2288889
NM_000540.3(RYR1):c.5495G>C (p.Gly1832Ala) rs193922784
NM_000540.3(RYR1):c.631+39dup rs35018208
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.7648C>G (p.Leu2550Val) rs193922821
NM_000540.3(RYR1):c.8068-29_8068-27del rs796750554
NM_000540.3(RYR1):c.8932+34dup rs5828009
NM_003289.4(TPM2):c.*7C>T rs79882576

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