ClinVar Miner

List of variants studied for Cardiomyopathy by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

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ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val) rs34327395 0.00921
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_002471.4(MYH6):c.4959+13G>A rs28730765 0.00762
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899 0.00555
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_001148.6(ANK2):c.7831T>C (p.Tyr2611His) rs35338364 0.00539
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_001267550.2(TTN):c.12233C>T (p.Thr4078Ile) rs80136515 0.00471
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln) rs150574114 0.00455
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314 0.00453
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) rs147315081 0.00427
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_000432.4(MYL2):c.170-19T>C rs115522476 0.00399
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00379
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931 0.00307
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His) rs34086871 0.00262
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser) rs574746149 0.00214
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
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_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_015141.4(GPD1L):c.659G>A (p.Arg220His) rs72546648 0.00130
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn) rs143229915 0.00100
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936 0.00094
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238 0.00092
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser) rs201418838 0.00084
NM_004517.4(ILK):c.65A>G (p.Asn22Ser) rs114115159 0.00080
NM_020433.5(JPH2):c.1424G>A (p.Arg475His) rs765754956 0.00079
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val) rs149615862 0.00052
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) rs149963885 0.00052
NM_001267550.2(TTN):c.57370G>A (p.Val19124Ile) rs142841000 0.00051
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly) rs537312655 0.00043
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122 0.00040
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln) rs142807436 0.00036
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754 0.00033
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu) rs141355480 0.00033
NM_001148.6(ANK2):c.8240G>A (p.Arg2747His) rs142137451 0.00032
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile) rs201016285 0.00029
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479 0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_001267550.2(TTN):c.40123G>A (p.Glu13375Lys) rs988844595 0.00022
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000152.5(GAA):c.913G>A (p.Gly305Arg) rs200154987 0.00019
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 0.00019
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg) rs397516625 0.00019
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) rs142534126 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_004006.3(DMD):c.2096C>G (p.Ala699Gly) rs202008454 0.00018
NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) rs201048693 0.00018
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) rs141801816 0.00017
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile) rs370300135 0.00016
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_014476.6(PDLIM3):c.697G>C (p.Val233Leu) rs143121072 0.00016
NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr) rs150684838 0.00014
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00012
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys) rs141078292 0.00011
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_005751.5(AKAP9):c.6808G>A (p.Ala2270Thr) rs1042630361 0.00009
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln) rs752144775 0.00008
NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter) rs148855956 0.00008
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly) rs754797146 0.00008
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met) rs144398602 0.00007
NM_032578.4(MYPN):c.3103A>G (p.Met1035Val) rs201975081 0.00007
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628 0.00006
NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln) rs573695008 0.00006
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser) rs766074604 0.00006
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile) rs199473353 0.00005
NM_001267550.2(TTN):c.59456C>T (p.Thr19819Ile) rs758287054 0.00005
NM_001267550.2(TTN):c.31174G>A (p.Glu10392Lys) rs187792775 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_005477.3(HCN4):c.3262G>A (p.Ala1088Thr) rs1050326641 0.00004
NM_000219.6(KCNE1):c.293G>A (p.Arg98Gln) rs150454912 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_001035.3(RYR2):c.13672C>T (p.His4558Tyr) rs773264033 0.00003
NM_001105206.3(LAMA4):c.572G>A (p.Gly191Glu) rs782010849 0.00003
NM_001267550.2(TTN):c.131A>T (p.Gln44Leu) rs867308852 0.00003
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) rs747240394 0.00003
NM_001267550.2(TTN):c.89753T>C (p.Val29918Ala) rs768749427 0.00003
NM_005751.5(AKAP9):c.4927A>G (p.Ile1643Val) rs141990258 0.00003
NM_032578.4(MYPN):c.410G>C (p.Arg137Thr) rs765931465 0.00003
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000335.5(SCN5A):c.1588T>G (p.Phe530Val) rs199473120 0.00002
NM_001267550.2(TTN):c.16464A>C (p.Lys5488Asn) rs760521859 0.00002
NM_001267550.2(TTN):c.2662G>A (p.Asp888Asn) rs759686739 0.00002
NM_001267550.2(TTN):c.4223G>A (p.Arg1408His) rs754270707 0.00002
NM_001267550.2(TTN):c.47732T>C (p.Met15911Thr) rs761390938 0.00002
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012 0.00002
NM_004006.3(DMD):c.1382A>G (p.Asn461Ser) rs775115784 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys) rs376950905 0.00002
NM_020297.4(ABCC9):c.1595T>C (p.Phe532Ser) rs934763013 0.00002
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000432.4(MYL2):c.142G>A (p.Asp48Asn) rs727504405 0.00001
NM_001103.4(ACTN2):c.1099A>G (p.Met367Val) rs771923322 0.00001
NM_001105206.3(LAMA4):c.2762C>A (p.Ser921Tyr) rs782424587 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys) rs866975469 0.00001
NM_001267550.2(TTN):c.10067C>T (p.Thr3356Ile) rs763323132 0.00001
NM_001267550.2(TTN):c.104017A>G (p.Met34673Val) rs758352523 0.00001
NM_001267550.2(TTN):c.14495G>A (p.Gly4832Asp) rs1485727928 0.00001
NM_001267550.2(TTN):c.29305T>C (p.Tyr9769His) rs778087108 0.00001
NM_001267550.2(TTN):c.6462C>G (p.Ile2154Met) rs780879621 0.00001
NM_001267550.2(TTN):c.67636+2T>C rs1575872984 0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352 0.00001
NM_001267550.2(TTN):c.69637C>T (p.Arg23213Cys) rs1335495074 0.00001
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln) rs201696360 0.00001
NM_001276345.2(TNNT2):c.163+1G>T rs113051005 0.00001
NM_001330.5(CTF1):c.26-12C>G rs727502948 0.00001
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn) rs750607476 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_005477.3(HCN4):c.2399G>A (p.Arg800His) rs375180021 0.00001
NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys) rs760392343 0.00001
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val) rs755362259 0.00001
NM_014000.3(VCL):c.2834T>C (p.Met945Thr) rs1443843519 0.00001
NM_017636.4(TRPM4):c.658G>A (p.Gly220Arg) rs1161880335 0.00001
NM_144573.4(NEXN):c.421C>T (p.Arg141Cys) rs536537549 0.00001
NM_000117.3(EMD):c.352C>T (p.Arg118Cys) rs781847968
NM_000257.4(MYH7):c.1405G>T (p.Asp469Tyr) rs397516106
NM_000257.4(MYH7):c.2554A>T (p.Met852Leu) rs1595082558
NM_001018005.2(TPM1):c.163G>T (p.Asp55Tyr) rs397516363
NM_001018005.2(TPM1):c.749A>T (p.Glu250Val) rs1596386673
NM_001035.3(RYR2):c.1601A>G (p.Tyr534Cys) rs1572409976
NM_001035.3(RYR2):c.49G>T (p.Asp17Tyr) rs370488091
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val) rs761019645
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del) rs794728835
NM_001105206.3(LAMA4):c.5269C>T (p.Pro1757Ser) rs782001026
NM_001148.6(ANK2):c.9657T>G (p.Ser3219Arg) rs953435984
NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) rs794727542
NM_001267550.2(TTN):c.19940A>G (p.His6647Arg) rs757799209
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.39212-9C>A rs373056460
NM_001267550.2(TTN):c.51352T>C (p.Phe17118Leu) rs1161061741
NM_001267550.2(TTN):c.52254G>C (p.Trp17418Cys) rs536554790
NM_001267550.2(TTN):c.75841G>T (p.Ala25281Ser) rs754787711
NM_001267550.2(TTN):c.8738T>C (p.Met2913Thr) rs1574560480
NM_001267550.2(TTN):c.92099T>C (p.Phe30700Ser) rs746552047
NM_001267550.2(TTN):c.96812A>G (p.Glu32271Gly) rs1559120065
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.4(MYH6):c.1399G>T (p.Glu467Ter) rs778808038
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu) rs34330111
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_005751.5(AKAP9):c.6303_6317del (p.Gln2101_Glu2105del) rs1229169680
NM_017636.4(TRPM4):c.1039C>G (p.Leu347Val) rs1471303873
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del) rs878855029
NM_032578.4(MYPN):c.3646A>G (p.Arg1216Gly) rs1589614570
NM_078470.6(COX15):c.694G>T (p.Val232Phe) rs1486568974
NM_145046.5(CALR3):c.239G>C (p.Arg80Pro) rs746369368
NM_145046.5(CALR3):c.679-3dup rs756560192
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) rs142639223

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