ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 294
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HGVS dbSNP gnomAD frequency
NM_003283.6(TNNT1):c.-20A>G rs9636153 0.84878
NM_001103.4(ACTN2):c.877-8C>G rs2288601 0.77958
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_001103.4(ACTN2):c.*526T>C rs1803032 0.67316
NM_002294.3(LAMP2):c.*4579A>G rs42885 0.62750
NM_001103.4(ACTN2):c.*447C>G rs1051253 0.51370
NM_001103.4(ACTN2):c.*111A>G rs1051251 0.50750
NM_001103.4(ACTN2):c.*748A>G rs7522310 0.49528
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509 0.36480
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187 0.29351
NM_002294.3(LAMP2):c.*5038A>G rs2748 0.28585
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320 0.27290
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725 0.24847
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371 0.24759
NM_001103.4(ACTN2):c.*724G>C rs7532533 0.18973
NM_001103.4(ACTN2):c.2610G>A (p.Ser870=) rs12063382 0.16345
NM_005159.4(ACTC1):c.*918delA rs34323254 0.13239
NM_002294.3(LAMP2):c.*1314T>C rs5957381 0.09876
NM_002294.3(LAMP2):c.*297A>C rs8160 0.09815
NM_002294.3(LAMP2):c.*3248G>A rs5957380 0.09812
NM_002294.3(LAMP2):c.*4671C>T rs1045953 0.09801
NM_002294.3(LAMP2):c.*486A>G rs5957383 0.09784
NM_002294.3(LAMP2):c.*2395A>G rs10127185 0.09686
NM_002294.3(LAMP2):c.*2261A>G rs12395643 0.09416
NM_002294.3(LAMP2):c.*2460A>G rs10127182 0.08629
NM_033118.3(MYLK2):c.*911T>A rs7269370 0.08602
NM_002294.3(LAMP2):c.*2195T>C rs13441024 0.08473
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_000363.5(TNNI3):c.-35C>A rs3729707 0.07367
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_002294.3(LAMP2):c.*1096T>C rs5957382 0.06824
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06427
NM_001256715.2(DNAAF3):c.1164-14C>T rs60176657 0.06188
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871 0.05642
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.05626
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_001103.4(ACTN2):c.*954G>A rs2153203 0.05552
NM_001103.4(ACTN2):c.*700A>G rs12733179 0.04737
NM_001103.4(ACTN2):c.1296G>A (p.Ala432=) rs35956798 0.04366
NM_003283.6(TNNT1):c.33-8G>A rs76630067 0.04332
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_000169.2(GLA):c.-105A>G rs3027583 0.04009
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=) rs34975493 0.03463
NM_002294.3(LAMP2):c.*1071G>T rs2285548 0.03391
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_002294.3(LAMP2):c.*1589A>G rs73612906 0.03180
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_001103.4(ACTN2):c.*423A>G rs114880747 0.02581
NM_001018004.2(TPM1):c.*119T>C rs138843544 0.02527
NM_002294.3(LAMP2):c.*205C>T rs41300191 0.02502
NM_001103.4(ACTN2):c.-22C>T rs138279482 0.02321
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_001276345.2(TNNT2):c.*66G>A rs3729998 0.01883
NM_002294.3(LAMP2):c.*2524T>C rs150119198 0.01799
NM_002294.3(LAMP2):c.*4562A>G rs142200759 0.01528
NM_002294.3(LAMP2):c.*1617C>T rs141881232 0.01521
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_002294.3(LAMP2):c.*2746A>G rs3827478 0.01396
NM_003476.4(CSRP3):c.-252G>A rs59444364 0.01356
NM_002294.3(LAMP2):c.*3249T>C rs41300908 0.01188
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_002294.3(LAMP2):c.*2162G>A rs767123866 0.00966
NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met) rs114601492 0.00882
NM_002294.3(LAMP2):c.*5048A>T rs113285013 0.00807
NM_002471.4(MYH6):c.-64G>C rs79618123 0.00747
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_000363.4(TNNI3):c.-148A>G rs73935313 0.00695
NM_001199973.2(RPL36A-HNRNPH2):c.301-3908A>C rs185255090 0.00585
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NM_003476.4(CSRP3):c.-181delC rs886048102 0.00372
NM_001103.4(ACTN2):c.*396G>A rs181994486 0.00359
NC_000014.9:g.23408281C>T rs142094404 0.00318
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_002294.3(LAMP2):c.*1356C>G rs188897063 0.00249
NM_002294.3(LAMP2):c.*586A>G rs41312757 0.00248
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=) rs559008223 0.00192
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_000363.5(TNNI3):c.-85A>C rs186540595 0.00142
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001018005.1(TPM1):c.-206G>A rs17525848 0.00111
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_000363.5(TNNI3):c.-103C>T rs557391836 0.00102
NM_002294.3(LAMP2):c.*4963del rs754879365 0.00097
NM_002294.3(LAMP2):c.*853G>A rs763861761 0.00088
NM_002294.3(LAMP2):c.*3687T>C rs185627568 0.00067
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_005159.4(ACTC1):c.*1781C>T rs560065427 0.00041
NM_002294.3(LAMP2):c.*4961A>G rs765371462 0.00039
NM_002294.3(LAMP2):c.*1632A>G rs755434692 0.00037
NM_005159.4(ACTC1):c.*983C>T rs549986676 0.00035
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_002294.3(LAMP2):c.*2148A>G rs756504749 0.00031
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_002294.3(LAMP2):c.*5172A>G rs778592348 0.00024
NM_033118.4(MYLK2):c.*563A>G rs190077645 0.00023
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_016599.5(MYOZ2):c.*192_*193insATA rs536614678 0.00019
NM_000257.4(MYH7):c.*105T>C rs200550717 0.00018
NM_002294.3(LAMP2):c.*477T>C rs750939378 0.00018
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile) rs373519667 0.00017
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000432.4(MYL2):c.274+9G>A rs371405579 0.00010
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_002294.3(LAMP2):c.*2005C>G rs200014321 0.00009
NM_002294.3(LAMP2):c.*4763A>T rs761928368 0.00009
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys) rs752321157 0.00009
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met) rs368451573 0.00008
NM_000432.4(MYL2):c.3+9A>G rs201763406 0.00007
NM_001103.4(ACTN2):c.*1274_*1275del rs771809993 0.00007
NM_002294.3(LAMP2):c.*1191A>T rs1004327482 0.00007
NM_000256.3(MYBPC3):c.1553T>C (p.Met518Thr) rs886048378 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001276345.2(TNNT2):c.601-8C>T rs397516475 0.00006
NM_002294.3(LAMP2):c.*2183T>C rs765214315 0.00006
NM_002294.3(LAMP2):c.*3689T>C rs975386272 0.00006
NM_002294.3(LAMP2):c.*721A>C rs887326511 0.00006
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667 0.00005
NM_002294.3(LAMP2):c.*1672C>T rs1024440041 0.00005
NM_002294.3(LAMP2):c.*2538A>C rs1057515739 0.00005
NM_013995.2(LAMP2):c.-154T>C rs999307628 0.00005
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=) rs375007425 0.00004
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) rs886050418 0.00004
NM_001276345.2(TNNT2):c.720-5T>G rs730881092 0.00004
NM_005159.4(ACTC1):c.*1318T>G rs759530643 0.00004
NM_144573.4(NEXN):c.1892T>C (p.Ile631Thr) rs775292649 0.00004
NM_000256.3(MYBPC3):c.3191-7C>T rs373012629 0.00003
NM_000256.3(MYBPC3):c.927-10C>T rs201078659 0.00003
NM_001018005.2(TPM1):c.-48C>T rs747523720 0.00003
NM_001103.4(ACTN2):c.-3G>T rs201920417 0.00003
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His) rs764117439 0.00003
NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val) rs886045828 0.00003
NM_002294.3(LAMP2):c.*4858A>G rs943561186 0.00003
NM_000169.3(GLA):c.457G>A (p.Asp153Asn) rs370299397 0.00002
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929 0.00002
NM_000257.4(MYH7):c.733-3C>T rs765068619 0.00002
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_002471.4(MYH6):c.1822G>A (p.Ala608Thr) rs886050409 0.00002
NM_002471.4(MYH6):c.212T>C (p.Val71Ala) rs769686237 0.00002
NM_002471.4(MYH6):c.934G>A (p.Ala312Thr) rs748143404 0.00002
NM_005159.5(ACTC1):c.-36C>G rs886051091 0.00002
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val) rs730880530 0.00001
NM_000257.4(MYH7):c.2922+6G>C rs781192476 0.00001
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_001042475.3(CEP85L):c.1020+17181A>T rs779232815 0.00001
NM_001042475.3(CEP85L):c.1020+6250A>T rs886060999 0.00001
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile) rs535319438 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val) rs886055258 0.00001
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser) rs777101912 0.00001
NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile) rs886055245 0.00001
NM_005159.4(ACTC1):c.*1090A>G rs886051070 0.00001
NM_005159.4(ACTC1):c.-109C>A rs886051097 0.00001
NM_000256.3(MYBPC3):c.*163C>A rs886048366
NM_000256.3(MYBPC3):c.*230del rs376645369
NM_000256.3(MYBPC3):c.*26+3A>G rs886048369
NM_000256.3(MYBPC3):c.*327C>A rs886048364
NM_000256.3(MYBPC3):c.*95G>T rs886048368
NM_000256.3(MYBPC3):c.1458-9C>T rs886048379
NM_000256.3(MYBPC3):c.2603-4C>A rs886048377
NM_000256.3(MYBPC3):c.2603G>T (p.Gly868Val) rs886048376
NM_000256.3(MYBPC3):c.2622C>A (p.Thr874=) rs886048375
NM_000256.3(MYBPC3):c.2639A>C (p.Asp880Ala) rs886048374
NM_000256.3(MYBPC3):c.2854C>G (p.Pro952Ala) rs554694434
NM_000256.3(MYBPC3):c.2892G>T (p.Val964=) rs886048372
NM_000256.3(MYBPC3):c.2905+7G>C rs886048371
NM_000256.3(MYBPC3):c.3627+6G>T rs886048370
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.927-7G>T rs886048381
NM_000257.4(MYH7):c.-39C>A rs886050424
NM_000257.4(MYH7):c.-47G>T rs886050425
NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr) rs753137666
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.449C>G (p.Ala150Gly) rs879196018
NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr) rs886050415
NM_000258.3(MYL3):c.*205C>A rs886058581
NM_000363.5(TNNI3):c.-133G>T rs886054636
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.157C>T (p.Leu53=) rs763981651
NM_000432.4(MYL2):c.4-3del rs886048961
NM_001018005.2(TPM1):c.*97CT[2] rs886051321
NM_001042475.3(CEP85L):c.1020+6013_1020+6015del rs765386927
NM_001103.4(ACTN2):c.-98CGCCGCC[2] rs552471202
NM_001103.4(ACTN2):c.-98CGCCGCC[4] rs552471202
NM_001103.4(ACTN2):c.1031A>C (p.Asn344Thr) rs886046206
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=) rs890872
NM_001267550.2(TTN):c.*99dup rs11424072
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100766-10del rs749872538
NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu) rs886055226
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del) rs771366227
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[9] rs71393436
NM_001267550.2(TTN):c.2758C>T (p.His920Tyr) rs886055307
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.44913+10dup rs745700983
NM_001267550.2(TTN):c.46044A>C (p.Ser15348=) rs886055273
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.5953A>G (p.Ile1985Val) rs886055303
NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del) rs886055257
NM_001267550.2(TTN):c.69095A>T (p.His23032Leu) rs886055251
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=) rs760755965
NM_001267550.2(TTN):c.915-7dup rs730880351
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=) rs886055227
NM_001276345.2(TNNT2):c.-22G>T rs886045829
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_002294.3(LAMP2):c.*1701dup rs373005118
NM_002294.3(LAMP2):c.*2148AT[8] rs753399289
NM_002294.3(LAMP2):c.*2148AT[9] rs753399289
NM_002294.3(LAMP2):c.*2736T>A rs1057515738
NM_002294.3(LAMP2):c.*3031dup rs113549733
NM_002294.3(LAMP2):c.*3347GTTA[1] rs764018077
NM_002294.3(LAMP2):c.*33A>G rs745798436
NM_002294.3(LAMP2):c.*3459GTT[3] rs199705754
NM_002294.3(LAMP2):c.*3677C>A rs1057515737
NM_002294.3(LAMP2):c.*653A>G rs1057515744
NM_002294.3(LAMP2):c.*692G>A rs1057515743
NM_002294.3(LAMP2):c.-103G>C rs1057515747
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_002294.3(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_002471.4(MYH6):c.675C>T (p.Asn225=) rs886050413
NM_003476.4(CSRP3):c.-161delG rs138573509
NM_003476.4(CSRP3):c.-162_-161AG[6] rs886048098
NM_003476.4(CSRP3):c.-180delA rs34865888
NM_003476.4(CSRP3):c.-182delT rs886048103
NM_005159.4(ACTC1):c.*1062G>A rs886051072
NM_005159.4(ACTC1):c.*1070A>C rs886051071
NM_005159.4(ACTC1):c.*1115A>T rs886051069
NM_005159.4(ACTC1):c.*1482G>T rs886051066
NM_005159.4(ACTC1):c.*1502G>T rs886051065
NM_005159.4(ACTC1):c.*1753G>T rs886051064
NM_005159.4(ACTC1):c.*1797C>A rs886051063
NM_005159.4(ACTC1):c.*2168G>T rs886051061
NM_005159.4(ACTC1):c.*224G>C rs551820554
NM_005159.4(ACTC1):c.*247G>A rs886051088
NM_005159.4(ACTC1):c.*284G>A rs886051087
NM_005159.4(ACTC1):c.*307T>A rs886051086
NM_005159.4(ACTC1):c.*422T>A rs886051084
NM_005159.4(ACTC1):c.*561C>A rs886051083
NM_005159.4(ACTC1):c.*643C>A rs886051081
NM_005159.4(ACTC1):c.*646C>A rs886051080
NM_005159.4(ACTC1):c.*674C>A rs886051079
NM_005159.4(ACTC1):c.*708G>T rs886051077
NM_005159.4(ACTC1):c.*739G>T rs886051076
NM_005159.4(ACTC1):c.*775C>A rs886051075
NM_005159.4(ACTC1):c.*935G>T rs766542832
NM_005159.4(ACTC1):c.-101G>T rs886051095
NM_005159.4(ACTC1):c.-105C>A rs886051096
NM_005159.4(ACTC1):c.-175C>A rs886051098
NM_005159.4(ACTC1):c.-194C>A rs886051099
NM_005159.5(ACTC1):c.-55C>A rs886051093
NM_005159.5(ACTC1):c.-55CCG[3] rs886051092
NM_005159.5(ACTC1):c.809-12_809-11insGT rs774238821
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005159.5(ACTC1):c.978C>A (p.Thr326=) rs886051089
NM_013995.2(LAMP2):c.-168dup rs760941179
NM_016599.5(MYOZ2):c.*1262del rs533440962
NM_016599.5(MYOZ2):c.*1262dup rs533440962
NM_016599.5(MYOZ2):c.-15+11dup rs58371596
NM_033337.3(CAV3):c.*725T>C rs886058918
NM_144573.3(NEXN):c.-212_-210GGC[7] rs528439602
NM_144573.4(NEXN):c.*418del rs368295679
NM_144573.4(NEXN):c.*418dup rs368295679
NM_144573.4(NEXN):c.*4CT[1] rs553696163

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