ClinVar Miner

List of variants reported as uncertain significance for Arrhythmogenic right ventricular dysplasia 5 by All of Us Research Program, National Institutes of Health

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Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg) rs730880226 0.00009
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_024334.3(TMEM43):c.-4C>T rs760598925 0.00007
NM_024334.3(TMEM43):c.214G>A (p.Val72Met) rs368603914 0.00006
NM_024334.3(TMEM43):c.53A>G (p.Lys18Arg) rs1214893591 0.00006
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu) rs140380494 0.00006
NM_024334.3(TMEM43):c.679C>G (p.His227Asp) rs201460674 0.00005
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887 0.00004
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu) rs376514478 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys) rs201094625 0.00004
NM_024334.3(TMEM43):c.310C>G (p.Pro104Ala) rs775872602 0.00004
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg) rs397517384 0.00004
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter) rs1423539317 0.00004
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter) rs147336367 0.00004
NM_024334.3(TMEM43):c.518T>C (p.Met173Thr) rs373023080 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024334.3(TMEM43):c.-2C>T rs754747623 0.00003
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys) rs752269639 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_024334.3(TMEM43):c.644A>C (p.His215Pro) rs730880225 0.00003
NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys) rs182464375 0.00003
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp) rs139842014 0.00003
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln) rs757651177 0.00003
NM_024334.3(TMEM43):c.980C>G (p.Thr327Arg) rs368111230 0.00003
NM_024334.3(TMEM43):c.1022G>A (p.Arg341Gln) rs749727938 0.00002
NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu) rs730880227 0.00002
NM_024334.3(TMEM43):c.1172G>A (p.Arg391Gln) rs757742631 0.00002
NM_024334.3(TMEM43):c.32G>A (p.Arg11Gln) rs568179990 0.00002
NM_024334.3(TMEM43):c.355G>A (p.Val119Met) rs757430674 0.00002
NM_024334.3(TMEM43):c.475A>G (p.Lys159Glu) rs1269566290 0.00002
NM_024334.3(TMEM43):c.719G>A (p.Arg240His) rs758817244 0.00002
NM_024334.3(TMEM43):c.778G>A (p.Val260Met) rs758872772 0.00002
NM_024334.3(TMEM43):c.956T>C (p.Met319Thr) rs775113815 0.00002
NM_024334.3(TMEM43):c.98C>T (p.Ser33Leu) rs539753097 0.00002
NM_024334.3(TMEM43):c.1000+6T>C rs773749788 0.00001
NM_024334.3(TMEM43):c.1037T>C (p.Ile346Thr) rs1286798674 0.00001
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met) rs754236206 0.00001
NM_024334.3(TMEM43):c.1115G>A (p.Arg372Gln) rs749140979 0.00001
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602 0.00001
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp) rs765762863 0.00001
NM_024334.3(TMEM43):c.1180G>A (p.Val394Met) rs758697367 0.00001
NM_024334.3(TMEM43):c.118C>G (p.Leu40Val) rs755682525 0.00001
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His) rs727505249 0.00001
NM_024334.3(TMEM43):c.167G>A (p.Arg56His) rs747164382 0.00001
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly) rs1225730180 0.00001
NM_024334.3(TMEM43):c.223G>A (p.Asp75Asn) rs138764471 0.00001
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala) rs148171303 0.00001
NM_024334.3(TMEM43):c.245C>T (p.Pro82Leu) rs748242385 0.00001
NM_024334.3(TMEM43):c.251A>G (p.Asn84Ser) rs773605236 0.00001
NM_024334.3(TMEM43):c.26G>A (p.Ser9Asn) rs1695062743 0.00001
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr) rs555913548 0.00001
NM_024334.3(TMEM43):c.344T>C (p.Leu115Pro) rs376182664 0.00001
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile) rs754381041 0.00001
NM_024334.3(TMEM43):c.401C>A (p.Thr134Asn) rs778405877 0.00001
NM_024334.3(TMEM43):c.47A>T (p.Lys16Ile) rs770619613 0.00001
NM_024334.3(TMEM43):c.494T>C (p.Ile165Thr) rs1339170856 0.00001
NM_024334.3(TMEM43):c.49G>A (p.Val17Ile) rs370973153 0.00001
NM_024334.3(TMEM43):c.520G>A (p.Ala174Thr) rs397517385 0.00001
NM_024334.3(TMEM43):c.530C>T (p.Ser177Leu) rs1167948235 0.00001
NM_024334.3(TMEM43):c.592G>A (p.Asp198Asn) rs1383512011 0.00001
NM_024334.3(TMEM43):c.606del (p.Phe203fs) rs753024549 0.00001
NM_024334.3(TMEM43):c.646G>A (p.Val216Met) rs143735210 0.00001
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys) rs562700595 0.00001
NM_024334.3(TMEM43):c.659G>A (p.Arg220His) rs570836197 0.00001
NM_024334.3(TMEM43):c.662G>A (p.Arg221His) rs774735646 0.00001
NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg) rs746183974 0.00001
NM_024334.3(TMEM43):c.686A>G (p.Glu229Gly) rs764671990 0.00001
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser) rs374202326 0.00001
NM_024334.3(TMEM43):c.705+5G>T rs754716462 0.00001
NM_024334.3(TMEM43):c.721G>A (p.Val241Ile) rs747344238 0.00001
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys) rs150478052 0.00001
NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn) rs375481688 0.00001
NM_024334.3(TMEM43):c.859C>T (p.His287Tyr) rs780299346 0.00001
NM_024334.3(TMEM43):c.935G>A (p.Arg312Gln) rs201543634 0.00001
NM_024334.3(TMEM43):c.959T>G (p.Phe320Cys) rs886787374 0.00001
NM_024334.3(TMEM43):c.973C>T (p.Leu325Phe) rs373644386 0.00001
NM_024334.3(TMEM43):c.982C>T (p.Arg328Trp) rs561883271 0.00001
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln) rs185611706 0.00001
NM_001407276.1(TMEM43):c.883-2_883del
NM_024334.3(TMEM43):c.-10G>C
NM_024334.3(TMEM43):c.-12C>T
NM_024334.3(TMEM43):c.-13G>C
NM_024334.3(TMEM43):c.1002G>A (p.Val334=)
NM_024334.3(TMEM43):c.1004A>G (p.Asp335Gly) rs1553603641
NM_024334.3(TMEM43):c.100G>A (p.Gly34Ser) rs1376541965
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu) rs17856369
NM_024334.3(TMEM43):c.1019del (p.Phe340fs)
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val) rs769793469
NM_024334.3(TMEM43):c.1052T>C (p.Phe351Ser)
NM_024334.3(TMEM43):c.1061G>A (p.Cys354Tyr) rs187262922
NM_024334.3(TMEM43):c.1061G>T (p.Cys354Phe) rs187262922
NM_024334.3(TMEM43):c.1064T>C (p.Val355Ala)
NM_024334.3(TMEM43):c.1067C>G (p.Ala356Gly)
NM_024334.3(TMEM43):c.1072T>C (p.Ser358Pro) rs1559363695
NM_024334.3(TMEM43):c.1076T>C (p.Leu359Pro)
NM_024334.3(TMEM43):c.107T>A (p.Met36Lys) rs1695064880
NM_024334.3(TMEM43):c.108G>A (p.Met36Ile) rs1695064905
NM_024334.3(TMEM43):c.1094C>G (p.Ala365Gly)
NM_024334.3(TMEM43):c.1126G>T (p.Ala376Ser)
NM_024334.3(TMEM43):c.1129C>T (p.Leu377Phe)
NM_024334.3(TMEM43):c.1147G>A (p.Ala383Thr) rs1695250482
NM_024334.3(TMEM43):c.1150C>A (p.Leu384Ile)
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val) rs193922706
NM_024334.3(TMEM43):c.1150C>T (p.Leu384Phe) rs193922706
NM_024334.3(TMEM43):c.1171C>T (p.Arg391Trp) rs1574942204
NM_024334.3(TMEM43):c.1192A>G (p.Lys398Glu)
NM_024334.3(TMEM43):c.1198del (p.Glu400fs)
NM_024334.3(TMEM43):c.140T>C (p.Phe47Ser)
NM_024334.3(TMEM43):c.162G>C (p.Glu54Asp) rs746126153
NM_024334.3(TMEM43):c.163-1G>C rs1060499911
NM_024334.3(TMEM43):c.163-3C>G
NM_024334.3(TMEM43):c.169G>T (p.Ala57Ser) rs151010429
NM_024334.3(TMEM43):c.17C>G (p.Ser6Cys)
NM_024334.3(TMEM43):c.190T>A (p.Leu64Met)
NM_024334.3(TMEM43):c.19A>G (p.Ser7Gly)
NM_024334.3(TMEM43):c.1A>G (p.Met1Val) rs757083718
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val) rs766792876
NM_024334.3(TMEM43):c.236G>C (p.Ser79Thr)
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu) rs771454768
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln) rs748343919
NM_024334.3(TMEM43):c.290C>T (p.Thr97Ile)
NM_024334.3(TMEM43):c.297+1G>T
NM_024334.3(TMEM43):c.298-14G>T
NM_024334.3(TMEM43):c.298-8G>C
NM_024334.3(TMEM43):c.305C>G (p.Ser102Cys)
NM_024334.3(TMEM43):c.326A>G (p.His109Arg) rs1398278496
NM_024334.3(TMEM43):c.332C>T (p.Pro111Leu)
NM_024334.3(TMEM43):c.351dup (p.His118fs)
NM_024334.3(TMEM43):c.362T>G (p.Met121Arg) rs1286177938
NM_024334.3(TMEM43):c.3G>A (p.Met1Ile)
NM_024334.3(TMEM43):c.410G>C (p.Gly137Ala) rs760628106
NM_024334.3(TMEM43):c.411del (p.Gln138fs)
NM_024334.3(TMEM43):c.421A>G (p.Lys141Glu)
NM_024334.3(TMEM43):c.440A>G (p.Tyr147Cys) rs766312977
NM_024334.3(TMEM43):c.443-15C>A
NM_024334.3(TMEM43):c.443A>G (p.Asn148Ser) rs1046932119
NM_024334.3(TMEM43):c.446C>T (p.Thr149Ile) rs1695115690
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu) rs1369869806
NM_024334.3(TMEM43):c.482del (p.Phe161fs) rs769722980
NM_024334.3(TMEM43):c.484G>T (p.Asp162Tyr)
NM_024334.3(TMEM43):c.485A>G (p.Asp162Gly) rs1312639832
NM_024334.3(TMEM43):c.487C>G (p.Arg163Gly)
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp) rs949064136
NM_024334.3(TMEM43):c.507C>A (p.Asn169Lys)
NM_024334.3(TMEM43):c.513-15T>A
NM_024334.3(TMEM43):c.517A>G (p.Met173Val)
NM_024334.3(TMEM43):c.544G>A (p.Ala182Thr) rs757013233
NM_024334.3(TMEM43):c.548C>T (p.Pro183Leu) rs746116143
NM_024334.3(TMEM43):c.548_559del (p.Pro183_Ile187delinsLeu)
NM_024334.3(TMEM43):c.568T>A (p.Phe190Ile) rs768718054
NM_024334.3(TMEM43):c.578C>A (p.Ser193Ter)
NM_024334.3(TMEM43):c.582A>G (p.Ser194=)
NM_024334.3(TMEM43):c.583+5G>A
NM_024334.3(TMEM43):c.583+6T>A
NM_024334.3(TMEM43):c.596_597del (p.Lys199fs)
NM_024334.3(TMEM43):c.599T>C (p.Val200Ala) rs2124990795
NM_024334.3(TMEM43):c.600_607del (p.Asp201fs)
NM_024334.3(TMEM43):c.621C>G (p.Ser207Arg)
NM_024334.3(TMEM43):c.623T>C (p.Leu208Pro)
NM_024334.3(TMEM43):c.626C>A (p.Ser209Tyr) rs1553603146
NM_024334.3(TMEM43):c.639C>G (p.Asp213Glu)
NM_024334.3(TMEM43):c.645T>G (p.His215Gln) rs370782259
NM_024334.3(TMEM43):c.646G>T (p.Val216Leu) rs143735210
NM_024334.3(TMEM43):c.649G>A (p.Asp217Asn) rs2124990891
NM_024334.3(TMEM43):c.669C>G (p.Asp223Glu)
NM_024334.3(TMEM43):c.699T>A (p.Tyr233Ter) rs1321317891
NM_024334.3(TMEM43):c.702A>T (p.Pro234=)
NM_024334.3(TMEM43):c.706-1G>A rs764377071
NM_024334.3(TMEM43):c.706-1G>T
NM_024334.3(TMEM43):c.706-3del
NM_024334.3(TMEM43):c.706-4C>G rs760936714
NM_024334.3(TMEM43):c.718C>G (p.Arg240Gly) rs367910936
NM_024334.3(TMEM43):c.719G>C (p.Arg240Pro)
NM_024334.3(TMEM43):c.724del (p.Ser242fs)
NM_024334.3(TMEM43):c.781-7T>A
NM_024334.3(TMEM43):c.788_789del (p.Val263fs) rs1489814713
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln) rs769969149
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg) rs1427535931
NM_024334.3(TMEM43):c.844A>C (p.Thr282Pro)
NM_024334.3(TMEM43):c.844A>G (p.Thr282Ala)
NM_024334.3(TMEM43):c.853C>A (p.Leu285Ile)
NM_024334.3(TMEM43):c.853C>T (p.Leu285Phe) rs186530498
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr) rs771028028
NM_024334.3(TMEM43):c.863A>G (p.His288Arg)
NM_024334.3(TMEM43):c.878C>T (p.Ala293Val)
NM_024334.3(TMEM43):c.892C>G (p.His298Asp) rs1559363073
NM_024334.3(TMEM43):c.894T>G (p.His298Gln)
NM_024334.3(TMEM43):c.8C>G (p.Ala3Gly)
NM_024334.3(TMEM43):c.901C>G (p.Leu301Val)
NM_024334.3(TMEM43):c.904A>T (p.Arg302Trp)
NM_024334.3(TMEM43):c.905G>C (p.Arg302Thr)
NM_024334.3(TMEM43):c.917T>C (p.Met306Thr)
NM_024334.3(TMEM43):c.918G>T (p.Met306Ile)
NM_024334.3(TMEM43):c.937G>C (p.Ala313Pro)
NM_024334.3(TMEM43):c.946T>A (p.Trp316Arg)
NM_024334.3(TMEM43):c.955A>G (p.Met319Val)
NM_024334.3(TMEM43):c.964G>A (p.Gly322Ser) rs1231932407
NM_024334.3(TMEM43):c.971A>G (p.Asn324Ser)
NM_024334.3(TMEM43):c.971del (p.Asn324fs) rs1553603465
NM_024334.3(TMEM43):c.977T>A (p.Met326Lys)
NM_024334.3(TMEM43):c.995C>G (p.Thr332Ser)

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