ClinVar Miner

List of variants reported as likely 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: 210
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HGVS dbSNP gnomAD frequency
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633 0.01509
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_017636.4(TRPM4):c.618G>A (p.Ser206=) rs142788545 0.00422
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_000384.3(APOB):c.607A>G (p.Ile203Val) rs72653059 0.00396
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) rs2234916 0.00387
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433 0.00374
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369 0.00373
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 0.00310
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040 0.00285
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg) rs72468638 0.00279
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328 0.00239
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala) rs1801698 0.00212
NM_000384.3(APOB):c.7615G>A (p.Val2539Ile) rs148170480 0.00210
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_033337.3(CAV3):c.-1G>A rs74377241 0.00201
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) rs572545726 0.00198
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_133379.5(TTN):c.14754T>G (p.Pro4918=) rs72648908 0.00190
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300 0.00156
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00120
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys) rs145771389 0.00118
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871 0.00106
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_000384.3(APOB):c.4163G>A (p.Arg1388His) rs13306187 0.00088
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr) rs200596619 0.00082
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr) rs150817714 0.00076
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp) rs150199251 0.00073
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) rs73226383 0.00070
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) rs143040393 0.00068
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu) rs201340369 0.00066
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_004006.3(DMD):c.1028G>A (p.Arg343His) rs61733589 0.00062
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr) rs45539535 0.00054
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) rs149963885 0.00052
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) rs375626512 0.00046
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645 0.00042
NM_004006.3(DMD):c.2824A>G (p.Met942Val) rs371648742 0.00042
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216 0.00035
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347 0.00031
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met) rs201829896 0.00031
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663 0.00030
NM_014000.3(VCL):c.366G>A (p.Leu122=) rs199562976 0.00029
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_005751.5(AKAP9):c.4826G>A (p.Arg1609Lys) rs148146011 0.00026
NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn) rs370550974 0.00025
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile) rs113817827 0.00024
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser) rs199588981 0.00018
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054 0.00013
NM_002471.4(MYH6):c.5476G>A (p.Gly1826Ser) rs202141059 0.00013
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=) rs375752426 0.00011
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) rs367548984 0.00011
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=) rs377520770 0.00010
NM_004006.3(DMD):c.7323T>C (p.Thr2441=) rs201919981 0.00010
NM_007078.3(LDB3):c.273G>A (p.Thr91=) rs45613039 0.00010
NM_001035.3(RYR2):c.4800C>T (p.Pro1600=) rs546340378 0.00009
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886 0.00009
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=) rs377742289 0.00009
NM_001148.6(ANK2):c.11181C>T (p.Gly3727=) rs185569619 0.00009
NM_000384.3(APOB):c.2841C>T (p.Thr947=) rs72653070 0.00008
NM_002294.3(LAMP2):c.*2794T>C rs368937075 0.00008
NM_004006.3(DMD):c.6847A>G (p.Ile2283Val) rs751145927 0.00008
NM_000384.3(APOB):c.12736T>G (p.Phe4246Val) rs200260789 0.00007
NM_004415.4(DSP):c.3102C>T (p.Ile1034=) rs569974617 0.00007
NM_178172.6(GPIHBP1):c.258C>G (p.Gly86=) rs545434518 0.00007
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) rs377579620 0.00006
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_002471.4(MYH6):c.4047C>T (p.Tyr1349=) rs570555040 0.00006
NM_000384.3(APOB):c.11319G>A (p.Lys3773=) rs780811733 0.00004
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) rs191342808 0.00004
NM_002230.4(JUP):c.1932C>T (p.Tyr644=) rs201704572 0.00004
NM_020433.5(JPH2):c.1395G>A (p.Pro465=) rs890379843 0.00004
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825 0.00003
NM_001267550.2(TTN):c.78117G>A (p.Lys26039=) rs772900049 0.00003
NM_002471.4(MYH6):c.2364G>A (p.Thr788=) rs779838927 0.00003
NM_002471.4(MYH6):c.635C>T (p.Ala212Val) rs780456381 0.00003
NM_005751.5(AKAP9):c.1203C>T (p.Val401=) rs748951815 0.00003
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu) rs200239096 0.00003
NM_016203.4(PRKAG2):c.591C>T (p.Pro197=) rs587781126 0.00003
NM_000335.5(SCN5A):c.495C>T (p.Thr165=) rs62242804 0.00002
NM_001103.4(ACTN2):c.784-525G>A rs1040815384 0.00002
NM_000256.3(MYBPC3):c.1944C>T (p.His648=) rs750861887 0.00001
NM_000256.3(MYBPC3):c.216C>A (p.Gly72=) rs760007714 0.00001
NM_000256.3(MYBPC3):c.3453G>A (p.Ala1151=) rs993015599 0.00001
NM_000257.4(MYH7):c.2862C>T (p.Ile954=) rs982198020 0.00001
NM_001018005.2(TPM1):c.573C>T (p.Ala191=) rs780507307 0.00001
NM_001103.4(ACTN2):c.1089C>T (p.Ser363=) rs397516562 0.00001
NM_001103.4(ACTN2):c.1359G>A (p.Ala453=) rs780174131 0.00001
NM_001943.5(DSG2):c.2751G>A (p.Ala917=) rs763063602 0.00001
NM_004415.4(DSP):c.6927G>A (p.Arg2309=) rs747248981 0.00001
NM_017636.4(TRPM4):c.216C>T (p.Thr72=) rs767155832 0.00001
NM_020433.5(JPH2):c.1758G>A (p.Glu586=) rs753383507 0.00001
NM_000238.4(KCNH2):c.1500C>T (p.Ile500=) rs147126965
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.4140A>G (p.Thr1380=) rs781016611
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_001001430.3(TNNT2):c.68-1623_68-1621delinsTT rs397516362
NM_001018005.2(TPM1):c.240+4423G>T rs2033027296
NM_001103.4(ACTN2):c.1794G>C (p.Pro598=) rs137890030
NM_001148.6(ANK2):c.1173G>T (p.Pro391=) rs755621902
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) rs766756026
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.65142C>G (p.Val21714=) rs1575973571
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del) rs748912340
NM_002471.4(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.4(MYH6):c.5477G>A (p.Gly1826Asp) rs200260229
NM_002471.4(MYH6):c.678C>G (p.Pro226=) rs768893926
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004281.4(BAG3):c.802T>C (p.Ser268Pro) rs761965592
NM_004415.4(DSP):c.7647C>T (p.Ser2549=) rs765385403
NM_016203.4(PRKAG2):c.66C>G (p.Gly22=) rs730880971
NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter) rs140704891
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1]) rs113100797
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815
NM_144573.4(NEXN):c.1593A>G (p.Arg531=) rs1359392123
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083

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