ClinVar Miner

List of variants reported as likely benign for cardiomyopathy by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

Included ClinVar conditions (559):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_001032283.3(TMPO):c.565+1728G>C rs145703021 0.00188
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) rs144022614 0.00183
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_002471.4(MYH6):c.3979-2A>C rs1158854454 0.00172
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.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00149
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
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_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 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_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu) rs72554071 0.00121
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu) rs200875379 0.00105
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn) rs143229915 0.00100
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 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_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_002471.4(MYH6):c.3978+8C>T rs367866050 0.00088
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 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_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00064
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val) rs144054367 0.00060
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser) rs143345726 0.00058
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_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_005751.5(AKAP9):c.8975C>T (p.Ser2992Leu) rs149341527 0.00051
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
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_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly) rs537312655 0.00043
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301 0.00042
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122 0.00040
NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln) rs187703540 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) rs185913848 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
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.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_001148.6(ANK2):c.1910C>T (p.Ala637Val) rs150488571 0.00028
NM_001267550.2(TTN):c.41330-7T>A rs373636988 0.00027
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479 0.00026
NM_001330.5(CTF1):c.275C>A (p.Ala92Glu) rs727502949 0.00023
NM_001267550.2(TTN):c.40123G>A (p.Glu13375Lys) rs988844595 0.00022
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 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_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile) rs370300135 0.00016
NM_001267550.2(TTN):c.36936A>T (p.Lys12312Asn) rs765517955 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_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr) rs150684838 0.00014
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283 0.00014
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp) rs200137051 0.00013
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105 0.00012
NM_000152.5(GAA):c.913G>A (p.Gly305Arg) rs200154987 0.00011
NM_001032283.3(TMPO):c.565+1641A>G rs143232629 0.00011
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743 0.00011
NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala) rs375309278 0.00011
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_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) rs369342933 0.00009
NM_005751.5(AKAP9):c.6808G>A (p.Ala2270Thr) rs1042630361 0.00009
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) rs387906874 0.00008
NM_014391.3(ANKRD1):c.133C>G (p.Leu45Val) rs372030578 0.00008
NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter) rs148855956 0.00008
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu) rs777446804 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_001079802.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516 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_001134363.3(RBM20):c.3523A>G (p.Thr1175Ala) rs768548680 0.00005
NM_001267550.2(TTN):c.59456C>T (p.Thr19819Ile) rs758287054 0.00005
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg) rs750886219 0.00005
NM_000231.3(SGCG):c.371G>T (p.Gly124Val) rs183204936 0.00004
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val) rs371194826 0.00004
NM_001267550.2(TTN):c.31174G>A (p.Glu10392Lys) rs187792775 0.00004
NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr) rs769226745 0.00004
NM_000258.3(MYL3):c.92G>A (p.Arg31His) rs199639940 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_001105206.3(LAMA4):c.824A>G (p.Lys275Arg) rs183711657 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.27350G>C (p.Arg9117Thr) rs375907742 0.00003
NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu) rs763845436 0.00003
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) rs372979075 0.00003
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) rs145425478 0.00003
NM_005751.5(AKAP9):c.4927A>G (p.Ile1643Val) rs141990258 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn) rs759284746 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000890.5(KCNJ5):c.864G>T (p.Glu288Asp) rs771919907 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.46079T>C (p.Ile15360Thr) rs1465320800 0.00002
NM_001267550.2(TTN):c.47732T>C (p.Met15911Thr) rs761390938 0.00002
NM_003239.5(TGFB3):c.883G>C (p.Gly295Arg) rs766164843 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_001032283.3(TMPO):c.565+1968G>A rs1051007448 0.00001
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) rs876657970 0.00001
NM_001148.6(ANK2):c.9598C>T (p.Leu3200Phe) rs750774547 0.00001
NM_001267550.2(TTN):c.104017A>G (p.Met34673Val) rs758352523 0.00001
NM_001267550.2(TTN):c.106342C>T (p.Arg35448Trp) rs530453291 0.00001
NM_001267550.2(TTN):c.14495G>A (p.Gly4832Asp) rs1485727928 0.00001
NM_001267550.2(TTN):c.19484G>A (p.Gly6495Asp) rs182633829 0.00001
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln) rs397517527 0.00001
NM_001267550.2(TTN):c.29305T>C (p.Tyr9769His) rs778087108 0.00001
NM_001267550.2(TTN):c.3011A>C (p.Glu1004Ala) rs1413214135 0.00001
NM_001267550.2(TTN):c.47495G>A (p.Arg15832Gln) rs376140223 0.00001
NM_001267550.2(TTN):c.50999G>A (p.Arg17000Lys) rs767481574 0.00001
NM_001267550.2(TTN):c.6462C>G (p.Ile2154Met) rs780879621 0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352 0.00001
NM_001330.5(CTF1):c.26-12C>G rs727502948 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004982.4(KCNJ8):c.1194C>G (p.Ile398Met) rs765422464 0.00001
NM_005477.3(HCN4):c.2399G>A (p.Arg800His) rs375180021 0.00001
NM_007078.3(LDB3):c.1105A>G (p.Ser369Gly) rs181700296 0.00001
NM_014476.6(PDLIM3):c.365G>A (p.Arg122Gln) rs751951109 0.00001
NM_017636.4(TRPM4):c.658G>A (p.Gly220Arg) rs1161880335 0.00001
NM_032578.4(MYPN):c.1876G>A (p.Asp626Asn) rs754064567 0.00001
NM_032578.4(MYPN):c.410G>C (p.Arg137Thr) rs765931465 0.00001
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr) rs267607574 0.00001
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) rs397516603
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
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.30683-17dup rs368277751
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
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.75841G>T (p.Ala25281Ser) rs754787711
NM_001267550.2(TTN):c.8738T>C (p.Met2913Thr) rs1574560480
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu) rs34330111
NM_002834.5(PTPN11):c.1705T>C (p.Cys569Arg) rs1420924484
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2]) rs397507458
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005477.3(HCN4):c.1005G>T (p.Met335Ile) rs758797709
NM_005751.5(AKAP9):c.6303_6317del (p.Gln2101_Glu2105del) rs1229169680
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del) rs878855029
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1]) rs113100797
NM_017636.4(TRPM4):c.641G>A (p.Arg214His) rs145878044
NM_020297.4(ABCC9):c.4450-5del rs4148680
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
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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