ClinVar Miner

List of variants reported as uncertain significance for cardiomyopathy by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000018.4(ACADVL):c.-36A>G rs372592554 0.00243
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_000018.4(ACADVL):c.1678+23C>T rs147546456 0.00163
NM_000018.4(ACADVL):c.1606-22C>T rs370303265 0.00139
NM_000018.4(ACADVL):c.878+33T>G rs145589195 0.00139
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00124
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_000018.4(ACADVL):c.63-35G>A rs774905326 0.00053
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_000018.4(ACADVL):c.286G>A (p.Glu96Lys) rs139427392 0.00035
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000018.4(ACADVL):c.1533-4T>A rs369986567 0.00026
NM_000018.4(ACADVL):c.1751+18G>A rs528002997 0.00024
NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr) rs367705640 0.00021
NM_000018.4(ACADVL):c.*8C>T rs370513576 0.00011
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met) rs143172658 0.00011
NM_000018.4(ACADVL):c.1269+25G>A rs373157378 0.00010
NM_000018.4(ACADVL):c.62+9G>A rs369512281 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr) rs375806217 0.00009
NM_000018.4(ACADVL):c.1803G>A (p.Met601Ile) rs201462718 0.00009
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000018.4(ACADVL):c.62+18G>A rs780776419 0.00006
NM_000018.4(ACADVL):c.686G>A (p.Arg229Gln) rs777955007 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000018.4(ACADVL):c.1077+16G>A rs780420241 0.00005
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641 0.00005
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000018.4(ACADVL):c.139-20C>T rs374535729 0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser) rs200117742 0.00004
NM_000018.4(ACADVL):c.1849G>A (p.Gly617Ser) rs752227163 0.00004
NM_000018.4(ACADVL):c.342+15G>A rs777751102 0.00004
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu) rs778514103 0.00004
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862 0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser) rs118204018 0.00003
NM_000018.4(ACADVL):c.1605+7G>A rs572010910 0.00003
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg) rs398123085 0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044 0.00003
NM_000018.4(ACADVL):c.1858G>A (p.Ala620Thr) rs965557488 0.00003
NM_000018.4(ACADVL):c.277+6G>T rs776422793 0.00003
NM_000018.4(ACADVL):c.298C>G (p.Gln100Glu) rs750675692 0.00003
NM_000018.4(ACADVL):c.343G>C (p.Glu115Gln) rs370146676 0.00003
NM_000018.4(ACADVL):c.467G>C (p.Cys156Ser) rs139973845 0.00003
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu) rs1356652354 0.00002
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln) rs772014118 0.00002
NM_000018.4(ACADVL):c.1236G>C (p.Gln412His) rs745355288 0.00002
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys) rs794727111 0.00002
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val) rs779901247 0.00002
NM_000018.4(ACADVL):c.477+8C>T rs1437698813 0.00002
NM_000018.4(ACADVL):c.478-44C>T rs754668930 0.00002
NM_000018.4(ACADVL):c.485G>A (p.Arg162His) rs754756970 0.00002
NM_000018.4(ACADVL):c.499G>A (p.Val167Met) rs199991742 0.00002
NM_000018.4(ACADVL):c.940G>A (p.Gly314Arg) rs775669454 0.00002
NM_000018.4(ACADVL):c.1040C>T (p.Ala347Val) rs2071295317 0.00001
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr) rs1567565733 0.00001
NM_000018.4(ACADVL):c.1052C>A (p.Thr351Asn) rs796051911 0.00001
NM_000018.4(ACADVL):c.1063A>G (p.Ile355Val) rs2071297089 0.00001
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr) rs1351976589 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn) rs1057523504 0.00001
NM_000018.4(ACADVL):c.1182+3G>T rs376281637 0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met) rs149116708 0.00001
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro) rs1384021857 0.00001
NM_000018.4(ACADVL):c.130G>A (p.Ala44Thr) rs573810960 0.00001
NM_000018.4(ACADVL):c.1333-13G>A rs774376862 0.00001
NM_000018.4(ACADVL):c.1345G>C (p.Glu449Gln) rs398123081 0.00001
NM_000018.4(ACADVL):c.1605+3A>G rs759274087 0.00001
NM_000018.4(ACADVL):c.1612C>T (p.Arg538Trp) rs192904909 0.00001
NM_000018.4(ACADVL):c.1678+4A>T rs1057518417 0.00001
NM_000018.4(ACADVL):c.179T>G (p.Leu60Arg) rs1405660468 0.00001
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr) rs200117742 0.00001
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys) rs398123086 0.00001
NM_000018.4(ACADVL):c.1827+10G>A rs766755156 0.00001
NM_000018.4(ACADVL):c.1829C>T (p.Ala610Val) rs1179668719 0.00001
NM_000018.4(ACADVL):c.1964T>A (p.Phe655Tyr) rs377659973 0.00001
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp) rs1458941582 0.00001
NM_000018.4(ACADVL):c.484C>T (p.Arg162Cys) rs751423064 0.00001
NM_000018.4(ACADVL):c.505A>G (p.Met169Val) rs2071227343 0.00001
NM_000018.4(ACADVL):c.62+20G>A rs369163211 0.00001
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro) rs775400380 0.00001
NM_000018.4(ACADVL):c.728T>A (p.Leu243His) rs772999007 0.00001
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala) rs756069599 0.00001
NM_000018.4(ACADVL):c.878+29G>C rs201502622 0.00001
NM_000018.4(ACADVL):c.879-16C>A rs780626099 0.00001
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg) rs142765230 0.00001
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala) rs398123095 0.00001
NM_000018.4(ACADVL):c.95G>A (p.Arg32Gln) rs754806489 0.00001
NM_000018.4(ACADVL):c.964G>A (p.Val322Met) rs1257648581 0.00001
NM_000018.4(ACADVL):c.1019G>A (p.Gly340Glu) rs934797393
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr) rs1064793382
NM_000018.4(ACADVL):c.1048G>A (p.Gly350Ser) rs767138639
NM_000018.4(ACADVL):c.1055T>G (p.Met352Arg) rs2071296504
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1064T>G (p.Ile355Ser) rs1351976589
NM_000018.4(ACADVL):c.1077+3_1077+6del rs2071298305
NM_000018.4(ACADVL):c.107C>T (p.Ala36Val) rs1165915680
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn) rs1331739604
NM_000018.4(ACADVL):c.1103A>T (p.Gln368Leu) rs776063244
NM_000018.4(ACADVL):c.1141G>A (p.Glu381Lys) rs1212266005
NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val) rs756194870
NM_000018.4(ACADVL):c.1183-7A>G rs750441118
NM_000018.4(ACADVL):c.1205C>A (p.Ala402Asp) rs727503793
NM_000018.4(ACADVL):c.1222G>A (p.Ala408Thr) rs2071338597
NM_000018.4(ACADVL):c.1254C>G (p.Ser418Arg) rs2071340371
NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu) rs1451455641
NM_000018.4(ACADVL):c.1269+13dup rs2071341157
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr) rs1419478766
NM_000018.4(ACADVL):c.1291G>C (p.Asp431His) rs781658827
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser) rs2071346777
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1329G>A (p.Met443Ile) rs2071347136
NM_000018.4(ACADVL):c.1346A>G (p.Glu449Gly) rs765346654
NM_000018.4(ACADVL):c.1358G>C (p.Arg453Pro) rs138058572
NM_000018.4(ACADVL):c.1360G>C (p.Asp454His) rs1419606204
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro) rs751995154
NM_000018.4(ACADVL):c.138+5G>A rs2071124642
NM_000018.4(ACADVL):c.1382T>C (p.Phe461Ser) rs755432945
NM_000018.4(ACADVL):c.1387G>C (p.Gly463Arg) rs2071355667
NM_000018.4(ACADVL):c.1391C>G (p.Thr464Arg) rs1555528796
NM_000018.4(ACADVL):c.1429T>C (p.Cys477Arg) rs2071357577
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1434+14T>C rs202217537
NM_000018.4(ACADVL):c.1496G>C (p.Gly499Ala) rs764943140
NM_000018.4(ACADVL):c.1538C>A (p.Ala513Glu) rs766003820
NM_000018.4(ACADVL):c.1606-10A>C rs2071381723
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000018.4(ACADVL):c.1643A>T (p.Glu548Val) rs2071384243
NM_000018.4(ACADVL):c.1663AAG[1] (p.Lys556del) rs866424446
NM_000018.4(ACADVL):c.1678+3_1678+6del rs759135941
NM_000018.4(ACADVL):c.1708G>T (p.Asp570Tyr) rs2071394443
NM_000018.4(ACADVL):c.1744C>T (p.Leu582Phe) rs1466587776
NM_000018.4(ACADVL):c.1751G>C (p.Arg584Thr) rs754123613
NM_000018.4(ACADVL):c.1763C>T (p.Ser588Phe) rs2071402000
NM_000018.4(ACADVL):c.1800A>T (p.Lys600Asn) rs2071403522
NM_000018.4(ACADVL):c.1807T>C (p.Cys603Arg) rs2071403861
NM_000018.4(ACADVL):c.1813A>C (p.Thr605Pro) rs2071404097
NM_000018.4(ACADVL):c.1826A>C (p.Glu609Ala) rs908625615
NM_000018.4(ACADVL):c.1901T>G (p.Phe634Cys) rs2071412683
NM_000018.4(ACADVL):c.1931G>C (p.Arg644Pro) rs774762384
NM_000018.4(ACADVL):c.1937G>T (p.Gly646Val) rs768878569
NM_000018.4(ACADVL):c.205-34A>G rs770101303
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe) rs1161495077
NM_000018.4(ACADVL):c.218T>C (p.Phe73Ser) rs2071156261
NM_000018.4(ACADVL):c.271C>T (p.Pro91Ser) rs398123087
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln) rs2071160066
NM_000018.4(ACADVL):c.329C>T (p.Ser110Phe) rs757608507
NM_000018.4(ACADVL):c.338T>C (p.Phe113Ser) rs2071172343
NM_000018.4(ACADVL):c.353_358del (p.Asp118_Pro119del) rs2071181405
NM_000018.4(ACADVL):c.358_360del (p.Ala120del) rs761449573
NM_000018.4(ACADVL):c.367G>A (p.Asp123Asn) rs1347143307
NM_000018.4(ACADVL):c.367G>T (p.Asp123Tyr) rs1347143307
NM_000018.4(ACADVL):c.378G>T (p.Glu126Asp) rs2071183181
NM_000018.4(ACADVL):c.404_412del (p.Gly135_Lys137del) rs2071184523
NM_000018.4(ACADVL):c.428G>C (p.Gly143Ala) rs1458941582
NM_000018.4(ACADVL):c.436G>A (p.Val146Met) rs398123089
NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser) rs1032857886
NM_000018.4(ACADVL):c.461G>C (p.Gly154Ala) rs2071188406
NM_000018.4(ACADVL):c.466T>C (p.Cys156Arg) rs2071188725
NM_000018.4(ACADVL):c.477+17G>A rs375076326
NM_000018.4(ACADVL):c.477+50A>T rs150033153
NM_000018.4(ACADVL):c.477G>C (p.Gln159His) rs2071189324
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly) rs2071225938
NM_000018.4(ACADVL):c.493G>A (p.Glu165Lys) rs2071226145
NM_000018.4(ACADVL):c.503G>A (p.Gly168Asp) rs2071227236
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.535G>A (p.Gly179Arg) rs796051909
NM_000018.4(ACADVL):c.545A>C (p.Gln182Pro) rs2071230096
NM_000018.4(ACADVL):c.563G>A (p.Gly188Asp) rs2071231444
NM_000018.4(ACADVL):c.575T>C (p.Phe192Ser) rs1555528189
NM_000018.4(ACADVL):c.592A>G (p.Lys198Glu) rs2071233392
NM_000018.4(ACADVL):c.605T>A (p.Leu202His) rs398123090
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.623-35C>A rs1303764728
NM_000018.4(ACADVL):c.623G>A (p.Gly208Glu) rs2071251302
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val) rs2071252145
NM_000018.4(ACADVL):c.650C>T (p.Thr217Ile) rs2071252808
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile) rs1241935771
NM_000018.4(ACADVL):c.705C>A (p.Ser235Arg) rs2071256120
NM_000018.4(ACADVL):c.753-27C>T rs374911841
NM_000018.4(ACADVL):c.753-9C>T rs1262931604
NM_000018.4(ACADVL):c.755A>G (p.Asn252Ser) rs2071263384
NM_000018.4(ACADVL):c.758G>A (p.Gly253Glu) rs2071263753
NM_000018.4(ACADVL):c.766G>C (p.Ala256Pro) rs2071264273
NM_000018.4(ACADVL):c.773T>G (p.Ile258Ser) rs1197133430
NM_000018.4(ACADVL):c.785T>C (p.Phe262Ser) rs1597528061
NM_000018.4(ACADVL):c.808C>T (p.Pro270Ser) rs2071266963
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.855G>C (p.Glu285Asp) rs201509063
NM_000018.4(ACADVL):c.879-11C>G rs1395957890
NM_000018.4(ACADVL):c.889G>A (p.Glu297Lys) rs2071287310
NM_000018.4(ACADVL):c.889_891del (p.Glu297del) rs796051914
NM_000018.4(ACADVL):c.898A>G (p.Met300Val) rs1026112888
NM_000018.4(ACADVL):c.901G>A (p.Gly301Ser) rs199738655
NM_000018.4(ACADVL):c.904A>T (p.Ile302Phe) rs2071288448
NM_000018.4(ACADVL):c.920C>G (p.Thr307Arg) rs866743364
NM_000018.4(ACADVL):c.956C>T (p.Ser319Leu) rs149467828
NM_000018.4(ACADVL):c.988T>C (p.Phe330Leu) rs947624074

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