ClinVar Miner

List of variants in gene TMEM43 studied for Cardiomyopathy

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Gene type:
ClinVar version:
Total variants: 371
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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.163-14C>T rs113745859 0.02553
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.*8C>T rs192707412 0.00225
NM_024334.3(TMEM43):c.163-6T>A rs372434224 0.00088
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.443-9C>T rs371866082 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.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.518T>C (p.Met173Thr) rs373023080 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.750C>T (p.Gly250=) rs374222050 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.584-13C>G rs748146417 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.661C>T (p.Arg221Cys) rs182464375 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.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.1172G>A (p.Arg391Gln) rs757742631 0.00002
NM_024334.3(TMEM43):c.179C>T (p.Thr60Met) rs1362645227 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.475A>G (p.Lys159Glu) rs1269566290 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.705+6C>T rs185025731 0.00002
NM_024334.3(TMEM43):c.719G>A (p.Arg240His) rs758817244 0.00002
NM_024334.3(TMEM43):c.747C>T (p.Ser249=) rs549809535 0.00002
NM_024334.3(TMEM43):c.778G>A (p.Val260Met) rs758872772 0.00002
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser) rs532872056 0.00002
NM_024334.3(TMEM43):c.888G>A (p.Val296=) rs763995800 0.00002
NM_024334.3(TMEM43):c.98C>T (p.Ser33Leu) rs539753097 0.00002
NM_024334.3(TMEM43):c.1000+2T>C rs748618994 0.00001
NM_024334.3(TMEM43):c.1001-11C>T rs755132712 0.00001
NM_024334.3(TMEM43):c.1037T>C (p.Ile346Thr) rs1286798674 0.00001
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser) rs565997790 0.00001
NM_024334.3(TMEM43):c.1067C>T (p.Ala356Val) rs1465084342 0.00001
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.1120_1121del (p.Leu374fs) rs746672224 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.164G>A (p.Gly55Asp) rs201453637 0.00001
NM_024334.3(TMEM43):c.167G>A (p.Arg56His) rs747164382 0.00001
NM_024334.3(TMEM43):c.168C>T (p.Arg56=) rs768752495 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.223G>A (p.Asp75Asn) rs138764471 0.00001
NM_024334.3(TMEM43):c.227G>A (p.Ser76Asn) rs144663367 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.251A>G (p.Asn84Ser) rs773605236 0.00001
NM_024334.3(TMEM43):c.252T>C (p.Asn84=) rs1197228653 0.00001
NM_024334.3(TMEM43):c.324C>T (p.Val108=) rs371279985 0.00001
NM_024334.3(TMEM43):c.333G>A (p.Pro111=) rs774276092 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.353A>G (p.His118Arg) rs796729938 0.00001
NM_024334.3(TMEM43):c.354C>T (p.His118=) rs754103544 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.42T>C (p.His14=) rs773252383 0.00001
NM_024334.3(TMEM43):c.440A>T (p.Tyr147Phe) rs766312977 0.00001
NM_024334.3(TMEM43):c.443-10C>T rs1695115549 0.00001
NM_024334.3(TMEM43):c.443-12C>G rs368555747 0.00001
NM_024334.3(TMEM43):c.47A>T (p.Lys16Ile) rs770619613 0.00001
NM_024334.3(TMEM43):c.483C>T (p.Phe161=) rs772842801 0.00001
NM_024334.3(TMEM43):c.497G>C (p.Gly166Ala) rs767516734 0.00001
NM_024334.3(TMEM43):c.500A>G (p.His167Arg) rs775986881 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.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.65dup (p.Pro23fs) rs1300909566 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.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.706-3C>T rs1212663056 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.763C>T (p.Leu255=) rs761968722 0.00001
NM_024334.3(TMEM43):c.768C>A (p.Gly256=) rs955293392 0.00001
NM_024334.3(TMEM43):c.781-13G>T rs202207425 0.00001
NM_024334.3(TMEM43):c.781-3C>T rs780142044 0.00001
NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu) rs769969149 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.855C>G (p.Leu285=) rs1337055313 0.00001
NM_024334.3(TMEM43):c.859C>T (p.His287Tyr) rs780299346 0.00001
NM_024334.3(TMEM43):c.893A>G (p.His298Arg) rs1285837389 0.00001
NM_024334.3(TMEM43):c.900A>G (p.Glu300=) rs758427713 0.00001
NM_024334.3(TMEM43):c.935G>A (p.Arg312Gln) rs201543634 0.00001
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro) rs1431861933 0.00001
NM_024334.3(TMEM43):c.959T>G (p.Phe320Cys) rs886787374 0.00001
NM_024334.3(TMEM43):c.961A>G (p.Met321Val) rs397517387 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_024334.3(TMEM43):c.993C>T (p.Tyr331=) rs755042745 0.00001
NM_024334.3(TMEM43):c.99G>A (p.Ser33=) rs147710692 0.00001
NM_024334.3(TMEM43):c.-15G>A rs1397752021
NM_024334.3(TMEM43):c.-3A>G rs763829810
NM_024334.3(TMEM43):c.-3A>T rs763829810
NM_024334.3(TMEM43):c.1001-3C>T rs1553603640
NM_024334.3(TMEM43):c.1005C>A (p.Asp335Glu) rs2124997146
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu) rs17856369
NM_024334.3(TMEM43):c.1015_1016dup (p.Arg341fs) rs1695246708
NM_024334.3(TMEM43):c.1019T>C (p.Phe340Ser) rs1559363663
NM_024334.3(TMEM43):c.1031T>G (p.Val344Gly)
NM_024334.3(TMEM43):c.1038T>C (p.Ile346=) rs1695247267
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val) rs769793469
NM_024334.3(TMEM43):c.1056C>T (p.Ala352=) rs772960578
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.1072T>C (p.Ser358Pro) rs1559363695
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.3(TMEM43):c.1077G>C (p.Leu359=)
NM_024334.3(TMEM43):c.1080C>T (p.Thr360=) rs370839609
NM_024334.3(TMEM43):c.108G>A (p.Met36Ile) rs1695064905
NM_024334.3(TMEM43):c.109T>C (p.Phe37Leu) rs1695064937
NM_024334.3(TMEM43):c.110T>G (p.Phe37Cys) rs1695064977
NM_024334.3(TMEM43):c.1120del (p.Leu374fs) rs1695249540
NM_024334.3(TMEM43):c.1123T>C (p.Trp375Arg) rs1695249790
NM_024334.3(TMEM43):c.112G>A (p.Val38Met) rs977468112
NM_024334.3(TMEM43):c.1135A>G (p.Ile379Val) rs759390824
NM_024334.3(TMEM43):c.1139C>G (p.Ala380Gly)
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.1159A>G (p.Ile387Val) rs541565919
NM_024334.3(TMEM43):c.1164T>G (p.Leu388=) rs1035334505
NM_024334.3(TMEM43):c.1168G>T (p.Ala390Ser) rs1695251084
NM_024334.3(TMEM43):c.1171C>T (p.Arg391Trp) rs1574942204
NM_024334.3(TMEM43):c.117G>C (p.Gly39=) rs1231946683
NM_024334.3(TMEM43):c.1184C>A (p.Pro395Gln) rs1169613716
NM_024334.3(TMEM43):c.1187C>T (p.Ala396Val) rs1339511658
NM_024334.3(TMEM43):c.1198G>T (p.Glu400Ter) rs1252529536
NM_024334.3(TMEM43):c.12+1G>A rs1239667599
NM_024334.3(TMEM43):c.13-1G>C rs2124985459
NM_024334.3(TMEM43):c.13-3C>T
NM_024334.3(TMEM43):c.130del (p.Leu44fs) rs2124985708
NM_024334.3(TMEM43):c.133C>T (p.Leu45Phe)
NM_024334.3(TMEM43):c.143A>C (p.Tyr48Ser) rs1553602871
NM_024334.3(TMEM43):c.162+1G>A rs1695065907
NM_024334.3(TMEM43):c.162G>C (p.Glu54Asp) rs746126153
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024334.3(TMEM43):c.169G>T (p.Ala57Ser) rs151010429
NM_024334.3(TMEM43):c.173T>G (p.Leu58Trp)
NM_024334.3(TMEM43):c.180G>C (p.Thr60=) rs765703685
NM_024334.3(TMEM43):c.184A>G (p.Thr62Ala)
NM_024334.3(TMEM43):c.185C>T (p.Thr62Ile)
NM_024334.3(TMEM43):c.193G>T (p.Ala65Ser) rs1695084511
NM_024334.3(TMEM43):c.195T>C (p.Ala65=) rs2124986930
NM_024334.3(TMEM43):c.204C>T (p.Leu68=) rs752403292
NM_024334.3(TMEM43):c.209T>C (p.Leu70Pro) rs1695084924
NM_024334.3(TMEM43):c.220C>T (p.Pro74Ser) rs1695085245
NM_024334.3(TMEM43):c.227del (p.Ser76fs)
NM_024334.3(TMEM43):c.237T>C (p.Ser79=) rs1559360551
NM_024334.3(TMEM43):c.238G>C (p.Val80Leu) rs2124987038
NM_024334.3(TMEM43):c.23C>A (p.Thr8Asn)
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu) rs771454768
NM_024334.3(TMEM43):c.25A>C (p.Ser9Arg)
NM_024334.3(TMEM43):c.25A>G (p.Ser9Gly) rs1054032061
NM_024334.3(TMEM43):c.265G>A (p.Val89Met) rs147319971
NM_024334.3(TMEM43):c.267G>A (p.Val89=) rs763697982
NM_024334.3(TMEM43):c.26G>C (p.Ser9Thr) rs1695062743
NM_024334.3(TMEM43):c.27T>C (p.Ser9=) rs1695062781
NM_024334.3(TMEM43):c.281C>T (p.Ala94Val)
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln) rs748343919
NM_024334.3(TMEM43):c.296A>C (p.Lys99Thr)
NM_024334.3(TMEM43):c.298-13A>G rs1695095913
NM_024334.3(TMEM43):c.298-5T>A rs1027914711
NM_024334.3(TMEM43):c.298-7T>A rs1695095938
NM_024334.3(TMEM43):c.2T>A (p.Met1Lys) rs765619239
NM_024334.3(TMEM43):c.304T>G (p.Ser102Ala)
NM_024334.3(TMEM43):c.30C>T (p.Thr10=) rs757554576
NM_024334.3(TMEM43):c.316T>C (p.Tyr106His) rs1695096147
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly) rs201085402
NM_024334.3(TMEM43):c.322G>A (p.Val108Ile) rs2124987801
NM_024334.3(TMEM43):c.330T>C (p.Leu110=) rs2124987823
NM_024334.3(TMEM43):c.332C>T (p.Pro111Leu)
NM_024334.3(TMEM43):c.337G>A (p.Val113Met) rs572474708
NM_024334.3(TMEM43):c.349A>T (p.Arg117Trp) rs1695096953
NM_024334.3(TMEM43):c.35G>A (p.Arg12Lys) rs1559359985
NM_024334.3(TMEM43):c.362T>C (p.Met121Thr) rs1286177938
NM_024334.3(TMEM43):c.362T>G (p.Met121Arg) rs1286177938
NM_024334.3(TMEM43):c.366C>T (p.Tyr122=) rs2124987907
NM_024334.3(TMEM43):c.371G>A (p.Trp124Ter) rs2124987915
NM_024334.3(TMEM43):c.392+1G>T rs1559360791
NM_024334.3(TMEM43):c.393-2A>C
NM_024334.3(TMEM43):c.393-4G>T rs1247757810
NM_024334.3(TMEM43):c.393G>A (p.Arg131=) rs1695110759
NM_024334.3(TMEM43):c.399C>T (p.Tyr133=) rs876657589
NM_024334.3(TMEM43):c.404A>C (p.Glu135Ala) rs2124988762
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del) rs746639451
NM_024334.3(TMEM43):c.421A>G (p.Lys141Glu)
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln) rs145619906
NM_024334.3(TMEM43):c.42T>A (p.His14Gln)
NM_024334.3(TMEM43):c.432G>A (p.Arg144=)
NM_024334.3(TMEM43):c.437C>T (p.Ser146Phe) rs1053499435
NM_024334.3(TMEM43):c.440A>G (p.Tyr147Cys) rs766312977
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.45C>G (p.Val15=) rs150334659
NM_024334.3(TMEM43):c.463A>G (p.Ile155Val) rs1695115973
NM_024334.3(TMEM43):c.47A>G (p.Lys16Arg) rs770619613
NM_024334.3(TMEM43):c.485A>G (p.Asp162Gly) rs1312639832
NM_024334.3(TMEM43):c.488G>A (p.Arg163Gln) rs759676847
NM_024334.3(TMEM43):c.48A>C (p.Lys16Asn) rs1695063356
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp) rs949064136
NM_024334.3(TMEM43):c.496G>C (p.Gly166Arg) rs1354385104
NM_024334.3(TMEM43):c.499C>G (p.His167Asp) rs1553603052
NM_024334.3(TMEM43):c.507C>G (p.Asn169Lys) rs1190919354
NM_024334.3(TMEM43):c.50T>C (p.Val17Ala) rs1695063437
NM_024334.3(TMEM43):c.512+3G>A rs754209349
NM_024334.3(TMEM43):c.513-11C>T rs1695130290
NM_024334.3(TMEM43):c.526G>A (p.Glu176Lys)
NM_024334.3(TMEM43):c.527A>G (p.Glu176Gly)
NM_024334.3(TMEM43):c.528G>C (p.Glu176Asp) rs2124989901
NM_024334.3(TMEM43):c.531A>T (p.Ser177=) rs1695130809
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.556C>T (p.Gln186Ter) rs1553603107
NM_024334.3(TMEM43):c.568T>A (p.Phe190Ile) rs768718054
NM_024334.3(TMEM43):c.583+6T>A
NM_024334.3(TMEM43):c.584-14T>G rs1695143733
NM_024334.3(TMEM43):c.584-14del rs1695143759
NM_024334.3(TMEM43):c.584-5C>T rs932265324
NM_024334.3(TMEM43):c.584G>A (p.Gly195Asp) rs1458517961
NM_024334.3(TMEM43):c.609del (p.Phe203fs) rs1313993263
NM_024334.3(TMEM43):c.624A>T (p.Leu208=) rs527942696
NM_024334.3(TMEM43):c.626C>T (p.Ser209Phe) rs1553603146
NM_024334.3(TMEM43):c.630G>A (p.Lys210=) rs1057523392
NM_024334.3(TMEM43):c.631C>G (p.Leu211Val) rs1209223184
NM_024334.3(TMEM43):c.636G>A (p.Glu212=) rs1695145292
NM_024334.3(TMEM43):c.639C>T (p.Asp213=)
NM_024334.3(TMEM43):c.640C>G (p.Pro214Ala) rs1574939150
NM_024334.3(TMEM43):c.645T>C (p.His215=) rs370782259
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.654C>G (p.Ile218Met) rs755270250
NM_024334.3(TMEM43):c.658C>G (p.Arg220Gly)
NM_024334.3(TMEM43):c.670T>C (p.Phe224Leu) rs1695146244
NM_024334.3(TMEM43):c.675C>G (p.Phe225Leu) rs1559361776
NM_024334.3(TMEM43):c.679C>T (p.His227Tyr) rs201460674
NM_024334.3(TMEM43):c.682A>G (p.Ser228Gly)
NM_024334.3(TMEM43):c.682A>T (p.Ser228Cys) rs776147178
NM_024334.3(TMEM43):c.699T>A (p.Tyr233Ter) rs1321317891
NM_024334.3(TMEM43):c.6C>A (p.Ala2=) rs1262797668
NM_024334.3(TMEM43):c.706-4C>G rs760936714
NM_024334.3(TMEM43):c.706-4C>T rs760936714
NM_024334.3(TMEM43):c.718C>A (p.Arg240Ser) rs367910936
NM_024334.3(TMEM43):c.732del (p.Tyr245fs)
NM_024334.3(TMEM43):c.737C>T (p.Ala246Val)
NM_024334.3(TMEM43):c.743T>C (p.Leu248Pro) rs774356401
NM_024334.3(TMEM43):c.749dup (p.Asp251fs) rs1695151947
NM_024334.3(TMEM43):c.750C>G (p.Gly250=)
NM_024334.3(TMEM43):c.753T>C (p.Asp251=) rs2124991349
NM_024334.3(TMEM43):c.772G>C (p.Ala258Pro)
NM_024334.3(TMEM43):c.781-2A>G rs1198392753
NM_024334.3(TMEM43):c.781-3C>G
NM_024334.3(TMEM43):c.781G>A (p.Val261Ile) rs1695161234
NM_024334.3(TMEM43):c.784A>C (p.Thr262Pro) rs2124991955
NM_024334.3(TMEM43):c.788_789del (p.Val263fs) rs1489814713
NM_024334.3(TMEM43):c.793G>A (p.Ala265Thr)
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln) rs769969149
NM_024334.3(TMEM43):c.814C>T (p.Leu272=) rs759993739
NM_024334.3(TMEM43):c.822_824del (p.Phe275del) rs1695162181
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg) rs1427535931
NM_024334.3(TMEM43):c.839G>A (p.Gly280Glu) rs1559362201
NM_024334.3(TMEM43):c.846C>T (p.Thr282=) rs1384290838
NM_024334.3(TMEM43):c.849A>G (p.Leu283=) rs1695162928
NM_024334.3(TMEM43):c.852_853delinsAA (p.Leu285Ile) rs1695163023
NM_024334.3(TMEM43):c.853C>T (p.Leu285Phe) rs186530498
NM_024334.3(TMEM43):c.86T>C (p.Leu29Pro) rs1695064359
NM_024334.3(TMEM43):c.882+3G>C
NM_024334.3(TMEM43):c.883-6C>G rs2124995129
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile) rs990243563
NM_024334.3(TMEM43):c.892C>G (p.His298Asp) rs1559363073
NM_024334.3(TMEM43):c.893A>C (p.His298Pro) rs1285837389
NM_024334.3(TMEM43):c.898G>T (p.Glu300Ter) rs746029667
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn) rs570799464
NM_024334.3(TMEM43):c.914C>A (p.Ser305Tyr) rs777277570
NM_024334.3(TMEM43):c.917_918delinsCT (p.Met306Thr) rs1553603453
NM_024334.3(TMEM43):c.929G>T (p.Gly310Val) rs2124995252
NM_024334.3(TMEM43):c.931C>T (p.Leu311=)
NM_024334.3(TMEM43):c.946T>A (p.Trp316Arg)
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.982C>A (p.Arg328=) rs561883271
NM_024334.3(TMEM43):c.984G>A (p.Arg328=) rs2124995381
NM_024334.3(TMEM43):c.994A>G (p.Thr332Ala) rs2124995399
NM_024334.3(TMEM43):c.995C>A (p.Thr332Asn) rs1695218764
NM_024334.3(TMEM43):c.995C>T (p.Thr332Ile) rs1695218764
NM_024334.3(TMEM43):c.99G>C (p.Ser33=) rs147710692

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