ClinVar Miner

List of variants in gene TMEM43 reported as uncertain significance for arrhythmogenic right ventricular dysplasia 5

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 353
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln) rs143535006 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.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys) rs754536393 0.00011
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.428C>T (p.Thr143Met) rs544554435 0.00008
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.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.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.1112A>G (p.Tyr371Cys) rs752269639 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys) rs140347235 0.00003
NM_024334.3(TMEM43):c.406G>A (p.Asp136Asn) rs559271953 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.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.1000+5G>T rs376589026 0.00002
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.1184C>G (p.Pro395Arg) rs1169613716 0.00002
NM_024334.3(TMEM43):c.179C>T (p.Thr60Met) rs1362645227 0.00002
NM_024334.3(TMEM43):c.317A>G (p.Tyr106Cys) rs747310600 0.00002
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp) rs201085402 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.625T>G (p.Ser209Ala) rs397517386 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.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+2T>C rs748618994 0.00001
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.1058T>C (p.Phe353Ser) rs565997790 0.00001
NM_024334.3(TMEM43):c.1067C>T (p.Ala356Val) rs1465084342 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.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.1178G>A (p.Arg393Gln) rs758037497 0.00001
NM_024334.3(TMEM43):c.118C>G (p.Leu40Val) rs755682525 0.00001
NM_024334.3(TMEM43):c.136T>C (p.Ser46Pro) rs145510310 0.00001
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His) rs727505249 0.00001
NM_024334.3(TMEM43):c.163-2A>T rs745694031 0.00001
NM_024334.3(TMEM43):c.167G>A (p.Arg56His) rs747164382 0.00001
NM_024334.3(TMEM43):c.178A>T (p.Thr60Ser) rs1695084121 0.00001
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly) rs1225730180 0.00001
NM_024334.3(TMEM43):c.208C>T (p.Leu70Phe) rs577359875 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.235A>G (p.Ser79Gly) rs930770110 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.329T>C (p.Leu110Pro) rs1553602985 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.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.497G>C (p.Gly166Ala) rs767516734 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.520G>A (p.Ala174Thr) rs397517385 0.00001
NM_024334.3(TMEM43):c.530C>T (p.Ser177Leu) rs1167948235 0.00001
NM_024334.3(TMEM43):c.542C>T (p.Thr181Ile) rs1695131103 0.00001
NM_024334.3(TMEM43):c.548C>G (p.Pro183Arg) rs746116143 0.00001
NM_024334.3(TMEM43):c.560T>C (p.Ile187Thr) rs772317634 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.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.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.686A>G (p.Glu229Gly) rs764671990 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.734A>G (p.Tyr245Cys) rs150478052 0.00001
NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn) rs375481688 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.859C>T (p.His287Tyr) rs780299346 0.00001
NM_024334.3(TMEM43):c.893A>G (p.His298Arg) rs1285837389 0.00001
NM_024334.3(TMEM43):c.895A>G (p.Arg299Gly) rs757038162 0.00001
NM_024334.3(TMEM43):c.90C>T (p.Ser30=) rs373839281 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.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_024334.3(TMEM43):c.997T>G (p.Leu333Val) rs1487754536 0.00001
NC_000003.11:g.(?_14166440)_(14185180_?)dup
NC_000003.11:g.(?_14166684)_(14183305_?)del
NC_000003.11:g.(?_14166694)_(14183295_?)dup
NC_000003.11:g.(?_14180660)_(14180817_?)del
NC_000003.12:g.(?_14125184)_(14141805_?)dup
NM_001407276.1(TMEM43):c.883-2_883del
NM_024334.3(TMEM43):c.1000+3A>G rs1695218964
NM_024334.3(TMEM43):c.1001dup (p.Asp335fs)
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.1015G>A (p.Val339Ile)
NM_024334.3(TMEM43):c.1019T>C (p.Phe340Ser) rs1559363663
NM_024334.3(TMEM43):c.1028T>A (p.Leu343Gln)
NM_024334.3(TMEM43):c.1028T>C (p.Leu343Pro)
NM_024334.3(TMEM43):c.1034A>G (p.Asn345Ser) rs758981622
NM_024334.3(TMEM43):c.1036A>G (p.Ile346Val) rs2124997196
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val) rs769793469
NM_024334.3(TMEM43):c.1061G>T (p.Cys354Phe) rs187262922
NM_024334.3(TMEM43):c.106A>G (p.Met36Val)
NM_024334.3(TMEM43):c.1079C>T (p.Thr360Ile) rs1181935816
NM_024334.3(TMEM43):c.107T>A (p.Met36Lys) rs1695064880
NM_024334.3(TMEM43):c.1090G>C (p.Val364Leu) rs754236206
NM_024334.3(TMEM43):c.1094C>T (p.Ala365Val) rs1052317732
NM_024334.3(TMEM43):c.1097C>T (p.Ala366Val)
NM_024334.3(TMEM43):c.1100G>A (p.Gly367Asp) rs794729179
NM_024334.3(TMEM43):c.110T>G (p.Phe37Cys) rs1695064977
NM_024334.3(TMEM43):c.1110C>G (p.Phe370Leu)
NM_024334.3(TMEM43):c.1112A>C (p.Tyr371Ser) rs752269639
NM_024334.3(TMEM43):c.1117C>A (p.Pro373Thr) rs770871762
NM_024334.3(TMEM43):c.1121T>C (p.Leu374Pro) rs2124997342
NM_024334.3(TMEM43):c.1127C>A (p.Ala376Asp)
NM_024334.3(TMEM43):c.1129C>T (p.Leu377Phe)
NM_024334.3(TMEM43):c.112G>A (p.Val38Met) rs977468112
NM_024334.3(TMEM43):c.1139C>G (p.Ala380Gly)
NM_024334.3(TMEM43):c.113T>A (p.Val38Glu) rs1695065091
NM_024334.3(TMEM43):c.1147G>A (p.Ala383Thr) rs1695250482
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.1153G>A (p.Val385Met)
NM_024334.3(TMEM43):c.1156C>T (p.Pro386Ser) rs1430520295
NM_024334.3(TMEM43):c.1159A>G (p.Ile387Val) rs541565919
NM_024334.3(TMEM43):c.1165G>A (p.Val389Ile)
NM_024334.3(TMEM43):c.1165G>T (p.Val389Phe) rs1308027129
NM_024334.3(TMEM43):c.1171C>T (p.Arg391Trp) rs1574942204
NM_024334.3(TMEM43):c.1172_1184del (p.Arg391fs) rs2124997454
NM_024334.3(TMEM43):c.1196T>G (p.Leu399Trp) rs1559363776
NM_024334.3(TMEM43):c.1198G>T (p.Glu400Ter) rs1252529536
NM_024334.3(TMEM43):c.11A>T (p.Asn4Ile)
NM_024334.3(TMEM43):c.12+2T>C
NM_024334.3(TMEM43):c.12+4A>C rs2124981822
NM_024334.3(TMEM43):c.124G>T (p.Ala42Ser) rs2124985701
NM_024334.3(TMEM43):c.13-2A>C
NM_024334.3(TMEM43):c.13-3C>T
NM_024334.3(TMEM43):c.136T>A (p.Ser46Thr) rs145510310
NM_024334.3(TMEM43):c.140_142del (p.Phe47del)
NM_024334.3(TMEM43):c.143A>C (p.Tyr48Ser) rs1553602871
NM_024334.3(TMEM43):c.14A>G (p.Tyr5Cys)
NM_024334.3(TMEM43):c.162+1G>A rs1695065907
NM_024334.3(TMEM43):c.162G>C (p.Glu54Asp) rs746126153
NM_024334.3(TMEM43):c.169G>T (p.Ala57Ser) rs151010429
NM_024334.3(TMEM43):c.178A>G (p.Thr60Ala) rs1695084121
NM_024334.3(TMEM43):c.193G>A (p.Ala65Thr) rs1695084511
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.203T>C (p.Leu68Pro) rs1553602940
NM_024334.3(TMEM43):c.218C>G (p.Ser73Cys) rs200652985
NM_024334.3(TMEM43):c.21T>G (p.Ser7Arg) rs371236613
NM_024334.3(TMEM43):c.235A>C (p.Ser79Arg) rs930770110
NM_024334.3(TMEM43):c.236del (p.Ser79fs)
NM_024334.3(TMEM43):c.241G>A (p.Ala81Thr) rs1695085843
NM_024334.3(TMEM43):c.241del (p.Ala81fs)
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu) rs771454768
NM_024334.3(TMEM43):c.281C>T (p.Ala94Val)
NM_024334.3(TMEM43):c.286C>T (p.Arg96Trp)
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.289A>T (p.Thr97Ser) rs1695087564
NM_024334.3(TMEM43):c.295A>G (p.Lys99Glu)
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg) rs199943048
NM_024334.3(TMEM43):c.298-5T>A rs1027914711
NM_024334.3(TMEM43):c.305C>G (p.Ser102Cys)
NM_024334.3(TMEM43):c.313A>G (p.Asn105Asp)
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly) rs201085402
NM_024334.3(TMEM43):c.322G>T (p.Val108Phe)
NM_024334.3(TMEM43):c.326A>G (p.His109Arg) rs1398278496
NM_024334.3(TMEM43):c.329_330del (p.Leu110fs) rs2124987821
NM_024334.3(TMEM43):c.331C>G (p.Pro111Ala) rs2124987826
NM_024334.3(TMEM43):c.332C>A (p.Pro111Gln) rs765816901
NM_024334.3(TMEM43):c.332C>T (p.Pro111Leu)
NM_024334.3(TMEM43):c.337G>A (p.Val113Met) rs572474708
NM_024334.3(TMEM43):c.348del (p.Arg117fs) rs2124987856
NM_024334.3(TMEM43):c.349A>T (p.Arg117Trp) rs1695096953
NM_024334.3(TMEM43):c.351dup (p.His118fs)
NM_024334.3(TMEM43):c.352C>T (p.His118Tyr)
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.363G>A (p.Met121Ile) rs1695097590
NM_024334.3(TMEM43):c.369A>G (p.Gln123=) rs2124987912
NM_024334.3(TMEM43):c.371G>A (p.Trp124Ter) rs2124987915
NM_024334.3(TMEM43):c.384G>C (p.Glu128Asp)
NM_024334.3(TMEM43):c.391A>C (p.Arg131=) rs2124987934
NM_024334.3(TMEM43):c.392+4A>G rs397517382
NM_024334.3(TMEM43):c.393G>A (p.Arg131=) rs1695110759
NM_024334.3(TMEM43):c.394G>A (p.Glu132Lys)
NM_024334.3(TMEM43):c.394G>T (p.Glu132Ter) rs1315939046
NM_024334.3(TMEM43):c.395A>C (p.Glu132Ala)
NM_024334.3(TMEM43):c.396G>C (p.Glu132Asp) rs1553603024
NM_024334.3(TMEM43):c.396G>T (p.Glu132Asp) rs1553603024
NM_024334.3(TMEM43):c.40C>T (p.His14Tyr)
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.443-13T>G
NM_024334.3(TMEM43):c.443-2A>T
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.464TCA[1] (p.Ile156del) rs1574938257
NM_024334.3(TMEM43):c.473G>A (p.Ser158Asn) rs1695116123
NM_024334.3(TMEM43):c.47A>G (p.Lys16Arg) rs770619613
NM_024334.3(TMEM43):c.482T>G (p.Phe161Cys)
NM_024334.3(TMEM43):c.482del (p.Phe161fs) rs769722980
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.492G>C (p.Glu164Asp) rs949064136
NM_024334.3(TMEM43):c.497G>T (p.Gly166Val)
NM_024334.3(TMEM43):c.499C>G (p.His167Asp) rs1553603052
NM_024334.3(TMEM43):c.4G>C (p.Ala2Pro) rs1695000807
NM_024334.3(TMEM43):c.502A>G (p.Lys168Glu)
NM_024334.3(TMEM43):c.511A>G (p.Ser171Gly)
NM_024334.3(TMEM43):c.511A>T (p.Ser171Cys) rs2124989219
NM_024334.3(TMEM43):c.544G>A (p.Ala182Thr) rs757013233
NM_024334.3(TMEM43):c.545C>T (p.Ala182Val) rs1394010451
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.556C>T (p.Gln186Ter) rs1553603107
NM_024334.3(TMEM43):c.55del (p.Thr19fs)
NM_024334.3(TMEM43):c.568T>A (p.Phe190Ile) rs768718054
NM_024334.3(TMEM43):c.583+4A>G rs1574938748
NM_024334.3(TMEM43):c.583+5G>A
NM_024334.3(TMEM43):c.584G>C (p.Gly195Ala) rs1458517961
NM_024334.3(TMEM43):c.584G>T (p.Gly195Val)
NM_024334.3(TMEM43):c.599T>C (p.Val200Ala) rs2124990795
NM_024334.3(TMEM43):c.59G>A (p.Ser20Asn)
NM_024334.3(TMEM43):c.59G>C (p.Ser20Thr) rs1261978753
NM_024334.3(TMEM43):c.605A>T (p.Asn202Ile) rs958959766
NM_024334.3(TMEM43):c.611A>G (p.Lys204Arg) rs568657650
NM_024334.3(TMEM43):c.614C>T (p.Ser205Phe) rs769787683
NM_024334.3(TMEM43):c.62C>G (p.Ser21Cys)
NM_024334.3(TMEM43):c.631C>G (p.Leu211Val) rs1209223184
NM_024334.3(TMEM43):c.634G>C (p.Glu212Gln)
NM_024334.3(TMEM43):c.640C>G (p.Pro214Ala) rs1574939150
NM_024334.3(TMEM43):c.644A>T (p.His215Leu) rs730880225
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.652A>G (p.Ile218Val)
NM_024334.3(TMEM43):c.65A>G (p.Gln22Arg)
NM_024334.3(TMEM43):c.662G>T (p.Arg221Leu)
NM_024334.3(TMEM43):c.667G>T (p.Asp223Tyr)
NM_024334.3(TMEM43):c.668A>T (p.Asp223Val)
NM_024334.3(TMEM43):c.66_67insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG (p.Pro23delinsAlaGlyArgGlyGlySerArgLeuTer)
NM_024334.3(TMEM43):c.670T>C (p.Phe224Leu) rs1695146244
NM_024334.3(TMEM43):c.674del (p.Phe225fs) rs1559361774
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.685G>A (p.Glu229Lys) rs1304261093
NM_024334.3(TMEM43):c.696G>C (p.Lys232Asn)
NM_024334.3(TMEM43):c.699T>A (p.Tyr233Ter) rs1321317891
NM_024334.3(TMEM43):c.699T>C (p.Tyr233=)
NM_024334.3(TMEM43):c.703G>A (p.Glu235Lys) rs1574939228
NM_024334.3(TMEM43):c.704A>G (p.Glu235Gly) rs751419150
NM_024334.3(TMEM43):c.706-1G>A rs764377071
NM_024334.3(TMEM43):c.706-1G>T
NM_024334.3(TMEM43):c.706-3C>A
NM_024334.3(TMEM43):c.710G>A (p.Gly237Glu)
NM_024334.3(TMEM43):c.712G>A (p.Asp238Asn) rs2124991270
NM_024334.3(TMEM43):c.718C>G (p.Arg240Gly) rs367910936
NM_024334.3(TMEM43):c.725C>G (p.Ser242Cys)
NM_024334.3(TMEM43):c.743T>C (p.Leu248Pro) rs774356401
NM_024334.3(TMEM43):c.749dup (p.Asp251fs) rs1695151947
NM_024334.3(TMEM43):c.760_780+2dup rs1559361931
NM_024334.3(TMEM43):c.764T>C (p.Leu255Pro) rs1343395046
NM_024334.3(TMEM43):c.767G>A (p.Gly256Asp) rs2124991379
NM_024334.3(TMEM43):c.778G>T (p.Val260Leu)
NM_024334.3(TMEM43):c.77T>C (p.Leu26Pro) rs2124985579
NM_024334.3(TMEM43):c.780+5C>A
NM_024334.3(TMEM43):c.781-7T>A
NM_024334.3(TMEM43):c.788_789del (p.Val263fs) rs1489814713
NM_024334.3(TMEM43):c.7G>A (p.Ala3Thr)
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln) rs769969149
NM_024334.3(TMEM43):c.809A>G (p.Asp270Gly) rs1201367358
NM_024334.3(TMEM43):c.824T>G (p.Phe275Cys)
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg) rs1427535931
NM_024334.3(TMEM43):c.834G>C (p.Lys278Asn)
NM_024334.3(TMEM43):c.83G>C (p.Arg28Pro) rs757651177
NM_024334.3(TMEM43):c.841G>A (p.Asp281Asn)
NM_024334.3(TMEM43):c.844A>G (p.Thr282Ala)
NM_024334.3(TMEM43):c.850C>G (p.Leu284Val) rs727504764
NM_024334.3(TMEM43):c.852_853delinsAA (p.Leu285Ile) rs1695163023
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.866G>A (p.Gly289Glu)
NM_024334.3(TMEM43):c.877G>A (p.Ala293Thr) rs1060501357
NM_024334.3(TMEM43):c.878C>A (p.Ala293Glu) rs1695163617
NM_024334.3(TMEM43):c.886G>A (p.Val296Met) rs1695216015
NM_024334.3(TMEM43):c.887T>C (p.Val296Ala)
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile) rs990243563
NM_024334.3(TMEM43):c.895dup (p.Arg299fs) rs1695216412
NM_024334.3(TMEM43):c.898G>T (p.Glu300Ter) rs746029667
NM_024334.3(TMEM43):c.905G>A (p.Arg302Lys) rs539945827
NM_024334.3(TMEM43):c.908G>A (p.Ser303Asn)
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.923C>T (p.Thr308Ile)
NM_024334.3(TMEM43):c.925T>C (p.Trp309Arg)
NM_024334.3(TMEM43):c.928G>T (p.Gly310Cys)
NM_024334.3(TMEM43):c.929del (p.Gly310fs) rs2124995245
NM_024334.3(TMEM43):c.937G>A (p.Ala313Thr) rs2124995269
NM_024334.3(TMEM43):c.944G>T (p.Gly315Val)
NM_024334.3(TMEM43):c.955A>G (p.Met319Val)
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val) rs1553603462
NM_024334.3(TMEM43):c.970A>G (p.Asn324Asp) rs1365389365
NM_024334.3(TMEM43):c.971A>T (p.Asn324Ile)
NM_024334.3(TMEM43):c.971del (p.Asn324fs) rs1553603465
NM_024334.3(TMEM43):c.985A>C (p.Ile329Leu) rs1060501358
NM_024334.3(TMEM43):c.992A>G (p.Tyr331Cys)
NM_024334.3(TMEM43):c.99_120del (p.Gly34fs)

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