ClinVar Miner

List of variants in gene TMEM43 studied for Cardiovascular phenotype

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Gene type:
ClinVar version:
Total variants: 256
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr) rs2340917 0.35127
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn) rs4685076 0.29043
NM_024334.3(TMEM43):c.909C>T (p.Ser303=) rs35100587 0.02012
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00069
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046 0.00046
NM_024334.3(TMEM43):c.516C>T (p.Ala172=) rs148432515 0.00045
NM_024334.3(TMEM43):c.279C>T (p.Gly93=) rs149883381 0.00044
NM_024334.3(TMEM43):c.45C>A (p.Val15=) rs150334659 0.00041
NM_024334.3(TMEM43):c.777C>T (p.His259=) rs143958148 0.00036
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn) rs150425166 0.00035
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_024334.3(TMEM43):c.564C>T (p.Gly188=) rs143124744 0.00024
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=) rs141675061 0.00021
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln) rs143535006 0.00021
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr) rs139590716 0.00021
NM_024334.3(TMEM43):c.361A>G (p.Met121Val) rs369878538 0.00017
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr) rs369142200 0.00014
NM_024334.3(TMEM43):c.864C>T (p.His288=) rs377585035 0.00014
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_024334.3(TMEM43):c.429G>A (p.Thr143=) rs201217046 0.00011
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys) rs754536393 0.00011
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578 0.00009
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg) rs730880226 0.00009
NM_024334.3(TMEM43):c.1089C>T (p.Thr363=) rs145094507 0.00008
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly) rs754797146 0.00008
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_024334.3(TMEM43):c.-4C>T rs760598925 0.00007
NM_024334.3(TMEM43):c.1185A>G (p.Pro395=) rs747754860 0.00006
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.797G>A (p.Arg266Gln) rs193922707 0.00006
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp) rs201138253 0.00006
NM_024334.3(TMEM43):c.921G>A (p.Lys307=) rs201771608 0.00006
NM_024334.3(TMEM43):c.981A>G (p.Thr327=) rs764960823 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.206C>T (p.Ser69Leu) rs369779779 0.00004
NM_024334.3(TMEM43):c.231C>G (p.Ile77Met) rs899266809 0.00004
NM_024334.3(TMEM43):c.310C>G (p.Pro104Ala) rs775872602 0.00004
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391 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.579G>A (p.Ser193=) rs369319499 0.00004
NM_024334.3(TMEM43):c.624A>G (p.Leu208=) rs527942696 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.180G>A (p.Thr60=) rs765703685 0.00003
NM_024334.3(TMEM43):c.189A>G (p.Ser63=) rs934304715 0.00003
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys) rs140347235 0.00003
NM_024334.3(TMEM43):c.591C>T (p.Ile197=) rs145024252 0.00003
NM_024334.3(TMEM43):c.644A>C (p.His215Pro) rs730880225 0.00003
NM_024334.3(TMEM43):c.684C>T (p.Ser228=) rs371019231 0.00003
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu) rs533275736 0.00003
NM_024334.3(TMEM43):c.748G>A (p.Gly250Ser) rs371797765 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.96C>T (p.Thr32=) rs1021721320 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.1140C>T (p.Ala380=) rs1055842863 0.00002
NM_024334.3(TMEM43):c.1184C>G (p.Pro395Arg) rs1169613716 0.00002
NM_024334.3(TMEM43):c.179C>T (p.Thr60Met) rs1362645227 0.00002
NM_024334.3(TMEM43):c.216G>A (p.Val72=) rs943527392 0.00002
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp) rs201085402 0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 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.600C>T (p.Val200=) rs760323011 0.00002
NM_024334.3(TMEM43):c.601G>A (p.Asp201Asn) rs138182276 0.00002
NM_024334.3(TMEM43):c.747C>T (p.Ser249=) rs549809535 0.00002
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser) rs532872056 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.1074G>A (p.Ser358=) rs377104916 0.00001
NM_024334.3(TMEM43):c.1085T>G (p.Leu362Arg) rs756256793 0.00001
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met) rs754236206 0.00001
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602 0.00001
NM_024334.3(TMEM43):c.1158C>T (p.Pro386=) rs1377312502 0.00001
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp) rs765762863 0.00001
NM_024334.3(TMEM43):c.118C>G (p.Leu40Val) rs755682525 0.00001
NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp) rs201453637 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.186C>G (p.Thr62=) rs773764939 0.00001
NM_024334.3(TMEM43):c.207G>A (p.Ser69=) rs886058030 0.00001
NM_024334.3(TMEM43):c.208C>T (p.Leu70Phe) rs577359875 0.00001
NM_024334.3(TMEM43):c.213G>A (p.Val71=) rs756764750 0.00001
NM_024334.3(TMEM43):c.235A>G (p.Ser79Gly) rs930770110 0.00001
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala) rs148171303 0.00001
NM_024334.3(TMEM43):c.246G>A (p.Pro82=) rs376098518 0.00001
NM_024334.3(TMEM43):c.252T>C (p.Asn84=) rs1197228653 0.00001
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr) rs555913548 0.00001
NM_024334.3(TMEM43):c.324C>T (p.Val108=) rs371279985 0.00001
NM_024334.3(TMEM43):c.344T>C (p.Leu115Pro) rs376182664 0.00001
NM_024334.3(TMEM43):c.346C>T (p.Arg116Trp) rs752588115 0.00001
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile) rs754381041 0.00001
NM_024334.3(TMEM43):c.381T>C (p.Thr127=) rs778409275 0.00001
NM_024334.3(TMEM43):c.401C>A (p.Thr134Asn) rs778405877 0.00001
NM_024334.3(TMEM43):c.42T>C (p.His14=) rs773252383 0.00001
NM_024334.3(TMEM43):c.49G>A (p.Val17Ile) rs370973153 0.00001
NM_024334.3(TMEM43):c.500A>G (p.His167Arg) rs775986881 0.00001
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val) rs553757132 0.00001
NM_024334.3(TMEM43):c.606del (p.Phe203fs) rs753024549 0.00001
NM_024334.3(TMEM43):c.62C>T (p.Ser21Phe) rs794729183 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.664G>A (p.Gly222Arg) rs746183974 0.00001
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser) rs374202326 0.00001
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala) rs751419150 0.00001
NM_024334.3(TMEM43):c.705+5G>T rs754716462 0.00001
NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn) rs375481688 0.00001
NM_024334.3(TMEM43):c.763C>T (p.Leu255=) rs761968722 0.00001
NM_024334.3(TMEM43):c.801G>A (p.Gln267=) rs1258459178 0.00001
NM_024334.3(TMEM43):c.831C>T (p.Thr277=) rs758007704 0.00001
NM_024334.3(TMEM43):c.834G>A (p.Lys278=) rs151009158 0.00001
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro) rs1431861933 0.00001
NM_024334.3(TMEM43):c.973C>T (p.Leu325Phe) rs373644386 0.00001
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln) rs185611706 0.00001
NM_024334.3(TMEM43):c.-3A>G rs763829810
NM_024334.3(TMEM43):c.-3A>T rs763829810
NM_024334.3(TMEM43):c.1006T>C (p.Trp336Arg)
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu) rs17856369
NM_024334.3(TMEM43):c.1015G>A (p.Val339Ile)
NM_024334.3(TMEM43):c.1019T>G (p.Phe340Cys) rs1559363663
NM_024334.3(TMEM43):c.1028T>C (p.Leu343Pro)
NM_024334.3(TMEM43):c.1034A>G (p.Asn345Ser) rs758981622
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser) rs187262922
NM_024334.3(TMEM43):c.1061G>T (p.Cys354Phe) rs187262922
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.3(TMEM43):c.1079C>T (p.Thr360Ile) rs1181935816
NM_024334.3(TMEM43):c.1080C>T (p.Thr360=) rs370839609
NM_024334.3(TMEM43):c.1090G>T (p.Val364Leu)
NM_024334.3(TMEM43):c.1112A>C (p.Tyr371Ser) rs752269639
NM_024334.3(TMEM43):c.1116_1129dup (p.Leu377fs)
NM_024334.3(TMEM43):c.1121T>C (p.Leu374Pro) rs2124997342
NM_024334.3(TMEM43):c.1129C>T (p.Leu377Phe)
NM_024334.3(TMEM43):c.1136T>C (p.Ile379Thr)
NM_024334.3(TMEM43):c.1138G>T (p.Ala380Ser)
NM_024334.3(TMEM43):c.1149_1150delinsTA (p.Leu384Ile) rs1695250554
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.1196T>G (p.Leu399Trp) rs1559363776
NM_024334.3(TMEM43):c.1201T>C (p.Ter401Arg)
NM_024334.3(TMEM43):c.120C>T (p.Leu40=)
NM_024334.3(TMEM43):c.131T>C (p.Leu44Pro)
NM_024334.3(TMEM43):c.143A>C (p.Tyr48Ser) rs1553602871
NM_024334.3(TMEM43):c.14A>G (p.Tyr5Cys)
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024334.3(TMEM43):c.165C>G (p.Gly55=)
NM_024334.3(TMEM43):c.17C>G (p.Ser6Cys)
NM_024334.3(TMEM43):c.184A>G (p.Thr62Ala)
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.227del (p.Ser76fs)
NM_024334.3(TMEM43):c.237T>G (p.Ser79Arg)
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu) rs771454768
NM_024334.3(TMEM43):c.258_261del (p.Arg87fs)
NM_024334.3(TMEM43):c.265G>A (p.Val89Met) rs147319971
NM_024334.3(TMEM43):c.27T>C (p.Ser9=) rs1695062781
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln) rs748343919
NM_024334.3(TMEM43):c.287G>C (p.Arg96Pro) rs748343919
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg) rs199943048
NM_024334.3(TMEM43):c.301T>C (p.Leu101=)
NM_024334.3(TMEM43):c.304T>G (p.Ser102Ala)
NM_024334.3(TMEM43):c.30C>T (p.Thr10=) rs757554576
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly) rs201085402
NM_024334.3(TMEM43):c.322G>T (p.Val108Phe)
NM_024334.3(TMEM43):c.334G>T (p.Ala112Ser)
NM_024334.3(TMEM43):c.336T>C (p.Ala112=)
NM_024334.3(TMEM43):c.348del (p.Arg117fs) rs2124987856
NM_024334.3(TMEM43):c.351G>A (p.Arg117=) rs2124987872
NM_024334.3(TMEM43):c.366C>T (p.Tyr122=) rs2124987907
NM_024334.3(TMEM43):c.370T>G (p.Trp124Gly)
NM_024334.3(TMEM43):c.393G>A (p.Arg131=) rs1695110759
NM_024334.3(TMEM43):c.402C>G (p.Thr134=)
NM_024334.3(TMEM43):c.409G>A (p.Gly137Arg)
NM_024334.3(TMEM43):c.410G>A (p.Gly137Glu) rs760628106
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del) rs746639451
NM_024334.3(TMEM43):c.41A>G (p.His14Arg)
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln) rs145619906
NM_024334.3(TMEM43):c.443A>G (p.Asn148Ser) rs1046932119
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu) rs1369869806
NM_024334.3(TMEM43):c.45C>G (p.Val15=) rs150334659
NM_024334.3(TMEM43):c.488G>A (p.Arg163Gln) rs759676847
NM_024334.3(TMEM43):c.492G>A (p.Glu164=) rs949064136
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp) rs949064136
NM_024334.3(TMEM43):c.496G>A (p.Gly166Ser)
NM_024334.3(TMEM43):c.497G>T (p.Gly166Val)
NM_024334.3(TMEM43):c.51T>G (p.Val17=) rs397517383
NM_024334.3(TMEM43):c.521C>T (p.Ala174Val)
NM_024334.3(TMEM43):c.537G>A (p.Met179Ile)
NM_024334.3(TMEM43):c.541A>G (p.Thr181Ala)
NM_024334.3(TMEM43):c.545C>T (p.Ala182Val) rs1394010451
NM_024334.3(TMEM43):c.548_559del (p.Pro183_Ile187delinsLeu)
NM_024334.3(TMEM43):c.549C>G (p.Pro183=)
NM_024334.3(TMEM43):c.552T>C (p.Phe184=)
NM_024334.3(TMEM43):c.576C>G (p.Leu192=)
NM_024334.3(TMEM43):c.615C>G (p.Ser205=) rs761287242
NM_024334.3(TMEM43):c.626C>A (p.Ser209Tyr) rs1553603146
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.652A>G (p.Ile218Val)
NM_024334.3(TMEM43):c.658C>A (p.Arg220Ser)
NM_024334.3(TMEM43):c.675C>G (p.Phe225Leu) rs1559361776
NM_024334.3(TMEM43):c.685G>A (p.Glu229Lys) rs1304261093
NM_024334.3(TMEM43):c.694A>G (p.Lys232Glu)
NM_024334.3(TMEM43):c.6C>A (p.Ala2=) rs1262797668
NM_024334.3(TMEM43):c.706-1G>T
NM_024334.3(TMEM43):c.706G>A (p.Val236Met)
NM_024334.3(TMEM43):c.718_719delinsGA (p.Arg240Asp) rs1553603172
NM_024334.3(TMEM43):c.724del (p.Ser242fs)
NM_024334.3(TMEM43):c.749dup (p.Asp251fs) rs1695151947
NM_024334.3(TMEM43):c.756C>T (p.Asp252=)
NM_024334.3(TMEM43):c.786T>C (p.Thr262=)
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg) rs1427535931
NM_024334.3(TMEM43):c.861C>G (p.His287Gln) rs886039048
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr) rs771028028
NM_024334.3(TMEM43):c.882+779_882+1454del
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile) rs990243563
NM_024334.3(TMEM43):c.891T>G (p.Phe297Leu)
NM_024334.3(TMEM43):c.894T>C (p.His298=)
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn) rs570799464
NM_024334.3(TMEM43):c.905G>T (p.Arg302Met)
NM_024334.3(TMEM43):c.908G>A (p.Ser303Asn)
NM_024334.3(TMEM43):c.908_909delinsAT (p.Ser303Asn)
NM_024334.3(TMEM43):c.917T>C (p.Met306Thr)
NM_024334.3(TMEM43):c.917_918delinsCT (p.Met306Thr) rs1553603453
NM_024334.3(TMEM43):c.918G>T (p.Met306Ile)
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.970A>G (p.Asn324Asp) rs1365389365
NM_024334.3(TMEM43):c.971del (p.Asn324fs) rs1553603465
NM_024334.3(TMEM43):c.978G>T (p.Met326Ile)
NM_024334.3(TMEM43):c.99G>C (p.Ser33=) rs147710692

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