ClinVar Miner

List of variants reported as benign by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 206
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HGVS dbSNP gnomAD frequency
NM_006514.4(SCN10A):c.4866T>C (p.Ser1622=) rs6599242 0.93283
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_020433.5(JPH2):c.156C>T (p.Tyr52=) rs1883790 0.86681
NM_001035.3(RYR2):c.2973A>G (p.Ser991=) rs2253273 0.84980
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=) rs6590357 0.84812
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731 0.77675
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077 0.74386
NM_006514.4(SCN10A):c.3218T>C (p.Val1073Ala) rs6795970 0.70355
NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) rs1137617 0.70278
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_032578.4(MYPN):c.1647T>C (p.Ser549=) rs2673794 0.57747
NM_002471.4(MYH6):c.4914T>C (p.Ala1638=) rs178640 0.53346
NM_001035.3(RYR2):c.1359C>T (p.Ser453=) rs3765097 0.51474
NM_004572.3(PKP2):c.-116C>T rs187291890 0.48955
NM_001943.5(DSG2):c.3321T>C (p.Val1107=) rs1791235 0.48308
NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) rs10644111 0.45670
NM_002471.4(MYH6):c.3302T>C (p.Val1101Ala) rs365990 0.44987
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39447
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn) rs4685076 0.29043
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300 0.28306
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_004415.4(DSP):c.2862C>T (p.Cys954=) rs2064217 0.27166
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=) rs1805120 0.25427
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) rs2278792 0.22185
NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro) rs12632942 0.21722
NM_006514.4(SCN10A):c.3393C>G (p.Thr1131=) rs6771157 0.21708
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) rs35141404 0.20903
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123 0.20300
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116 0.20181
NM_006514.4(SCN10A):c.1476C>T (p.Leu492=) rs7617919 0.20158
NM_006514.4(SCN10A):c.1284G>A (p.Glu428=) rs62244070 0.20052
NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr) rs3810510 0.19815
NM_006514.4(SCN10A):c.2937C>T (p.Gly979=) rs59468016 0.18899
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.18480
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512 0.17362
NM_032578.4(MYPN):c.1875C>T (p.Pro625=) rs2673793 0.17340
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_000257.4(MYH7):c.1128C>T (p.Asp376=) rs2231126 0.15761
NM_006514.4(SCN10A):c.3192G>A (p.Thr1064=) rs6791171 0.15667
NM_144573.4(NEXN):c.733G>A (p.Gly245Arg) rs1166698 0.15380
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=) rs3729830 0.14676
NM_000257.4(MYH7):c.1095G>A (p.Lys365=) rs735711 0.13859
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=) rs173135 0.12771
NM_032578.4(MYPN):c.1178T>C (p.Val393Ala) rs11596653 0.11086
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_002471.4(MYH6):c.5598A>G (p.Leu1866=) rs17091278 0.08756
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_002471.4(MYH6):c.4011G>A (p.Ser1337=) rs451794 0.07834
NM_004415.4(DSP):c.126T>C (p.Tyr42=) rs36087964 0.06956
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986 0.06899
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.05001
NM_000363.5(TNNI3):c.537G>A (p.Glu179=) rs3729841 0.04860
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966 0.04717
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731 0.04375
NM_032578.4(MYPN):c.2163C>A (p.Ala721=) rs71584491 0.04239
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051 0.03962
NM_002471.4(MYH6):c.4838T>C (p.Val1613Ala) rs61742476 0.03922
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_002471.4(MYH6):c.4778A>T (p.Gln1593Leu) rs45574136 0.03900
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_001276345.2(TNNT2):c.610-90G>A rs11810834 0.03251
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953 0.03083
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414 0.02926
NM_022773.4(LMF1):c.1091G>A (p.Arg364Gln) rs35168378 0.02818
NM_002471.4(MYH6):c.4527G>A (p.Glu1509=) rs34855944 0.02632
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_006514.4(SCN10A):c.5217C>T (p.Asp1739=) rs116353929 0.02232
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_022773.4(LMF1):c.1060C>T (p.Arg354Trp) rs143076454 0.01380
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_001276345.2(TNNT2):c.610-81C>T rs28730745 0.00831
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952 0.00756
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815 0.00675
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028 0.00652
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) rs34065672 0.00649
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 0.00637
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_003098.3(SNTA1):c.166C>T (p.Pro56Ser) rs573772189 0.00585
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=) rs45501694 0.00469
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) rs147315081 0.00427
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00399
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_004281.4(BAG3):c.249C>A (p.His83Gln) rs151331972 0.00344
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_000384.3(APOB):c.13369G>A (p.Asp4457Asn) rs183812948 0.00250
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355 0.00179
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00066
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_002474.3(MYH11):c.1502G>A (p.Arg501His) rs144244239 0.00029
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456 0.00025
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127 0.00019
NM_000257.4(MYH7):c.1407T>C (p.Asp469=) rs112172952 0.00008
NM_001103.4(ACTN2):c.744C>T (p.Tyr248=) rs749565466 0.00006
NM_002471.4(MYH6):c.2685G>A (p.Ala895=) rs752345245 0.00006
NM_004281.4(BAG3):c.785C>T (p.Ala262Val) rs397516883 0.00006
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651 0.00003
NM_004415.4(DSP):c.1557C>T (p.Ala519=) rs769629611 0.00003
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_000719.7(CACNA1C):c.1126G>A (p.Val376Ile) rs1131653 0.00002
NM_000719.7(CACNA1C):c.4578G>A (p.Pro1526=) rs376555924 0.00002
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) rs727503693 0.00002
NM_004006.3(DMD):c.6072T>C (p.Cys2024=) rs373804251 0.00002
NM_000256.3(MYBPC3):c.2241C>T (p.Gly747=) rs755910458 0.00001
NM_000384.3(APOB):c.10734C>T (p.Phe3578=) rs773361538 0.00001
NM_000384.3(APOB):c.11826C>T (p.Ala3942=) rs775360043 0.00001
NM_000527.5(LDLR):c.783C>T (p.Cys261=) rs1057519663 0.00001
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=) rs377763336 0.00001
NM_001103.4(ACTN2):c.375C>T (p.Gly125=) rs781385336 0.00001
NM_001148.6(ANK2):c.3882C>T (p.Asn1294=) rs780187690 0.00001
NM_002471.4(MYH6):c.2547G>A (p.Lys849=) rs770629886 0.00001
NM_002471.4(MYH6):c.3876G>A (p.Gln1292=) rs145290322 0.00001
NM_007078.3(LDB3):c.423C>A (p.Thr141=) rs1253491293 0.00001
NM_024422.6(DSC2):c.561T>C (p.Tyr187=) rs749063028 0.00001
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000238.4(KCNH2):c.1056C>T (p.Pro352=) rs1554427342
NM_000238.4(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000719.7(CACNA1C):c.4821T>C (p.Pro1607=) rs2096712361
NM_001018005.2(TPM1):c.240+4432G>T rs1168946600
NM_001018005.2(TPM1):c.45G>A (p.Lys15=) rs199476301
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001134363.3(RBM20):c.2817C>T (p.Asp939=) rs1225833082
NM_001148.6(ANK2):c.1338T>A (p.Ile446=) rs1269042411
NM_001267550.2(TTN):c.2445C>T (p.His815=) rs748421021
NM_001267550.2(TTN):c.30683-2del rs1553868981
NM_002230.4(JUP):c.2139G>A (p.Pro713=) rs782165431
NM_003242.6(TGFBR2):c.960A>G (p.Gln320=) rs1699352505
NM_003673.4(TCAP):c.88C>T (p.Leu30=) rs1282445039
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_006073.4(TRDN):c.1598-6dup rs147062785
NM_006514.4(SCN10A):c.5137= (p.Met1713=) rs6599241
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_032578.4(MYPN):c.2409C>G (p.Ser803Arg) rs3814182

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