ClinVar Miner

List of variants reported as likely benign for Hypertrophic cardiomyopathy by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 98
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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_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.*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_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
NC_000014.9:g.23408281C>T rs142094404 0.00318
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=) rs559008223 0.00192
NM_001018005.1(TPM1):c.-206G>A rs17525848 0.00111
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_000257.4(MYH7):c.*105T>C rs200550717 0.00018
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667 0.00005
NM_000256.3(MYBPC3):c.*230del rs376645369
NM_000256.3(MYBPC3):c.2854C>G (p.Pro952Ala) rs554694434
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_001103.4(ACTN2):c.-98CGCCGCC[2] rs552471202
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=) rs890872
NM_001267550.2(TTN):c.*99dup rs11424072
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_002294.3(LAMP2):c.*1701dup rs373005118
NM_002294.3(LAMP2):c.*2148AT[9] rs753399289
NM_002294.3(LAMP2):c.*3031dup rs113549733
NM_002294.3(LAMP2):c.*3459GTT[3] rs199705754
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_016599.5(MYOZ2):c.-15+11dup rs58371596
NM_144573.4(NEXN):c.*418dup rs368295679

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