ClinVar Miner

List of variants in gene TMEM43 studied for Arrhythmogenic right ventricular cardiomyopathy, type 5

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Total variants: 120
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HGVS dbSNP
NC_000003.11:g.(?_14166440)_(14185180_?)dup
NM_024334.2(TMEM43):c.1000+2T>C rs748618994
NM_024334.2(TMEM43):c.1004A>G (p.Asp335Gly) rs1553603641
NM_024334.2(TMEM43):c.1026C>A (p.Asp342Glu) rs376514478
NM_024334.2(TMEM43):c.1061G>T (p.Cys354Phe)
NM_024334.2(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.2(TMEM43):c.1095G>A (p.Ala365=) rs141675061
NM_024334.2(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134
NM_024334.2(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046
NM_024334.2(TMEM43):c.1111T>C (p.Tyr371His) rs116911972
NM_024334.2(TMEM43):c.1112A>G (p.Tyr371Cys) rs752269639
NM_024334.2(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224
NM_024334.2(TMEM43):c.112G>A (p.Val38Met) rs977468112
NM_024334.2(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602
NM_024334.2(TMEM43):c.1150C>G (p.Leu384Val) rs193922706
NM_024334.2(TMEM43):c.1159A>G (p.Ile387Val) rs541565919
NM_024334.2(TMEM43):c.1171C>T (p.Arg391Trp)
NM_024334.2(TMEM43):c.1177C>T (p.Arg393Trp)
NM_024334.2(TMEM43):c.118C>G (p.Leu40Val)
NM_024334.2(TMEM43):c.1196T>G (p.Leu399Trp)
NM_024334.2(TMEM43):c.136T>C (p.Ser46Pro) rs145510310
NM_024334.2(TMEM43):c.163-3delC rs371706980
NM_024334.2(TMEM43):c.163-6T>A rs372434224
NM_024334.2(TMEM43):c.164G>A (p.Gly55Asp) rs201453637
NM_024334.2(TMEM43):c.166C>T (p.Arg56Cys) rs201094625
NM_024334.2(TMEM43):c.169G>A (p.Ala57Thr) rs151010429
NM_024334.2(TMEM43):c.177G>A (p.Lys59=) rs1553602938
NM_024334.2(TMEM43):c.180G>A (p.Thr60=) rs765703685
NM_024334.2(TMEM43):c.189A>G (p.Ser63=) rs934304715
NM_024334.2(TMEM43):c.203T>C (p.Leu68Pro) rs1553602940
NM_024334.2(TMEM43):c.214G>A (p.Val72Met) rs368603914
NM_024334.2(TMEM43):c.218C>G (p.Ser73Cys)
NM_024334.2(TMEM43):c.21T>G (p.Ser7Arg)
NM_024334.2(TMEM43):c.222C>T (p.Pro74=) rs34099410
NM_024334.2(TMEM43):c.223G>A (p.Asp75Asn) rs138764471
NM_024334.2(TMEM43):c.231C>T (p.Ile77=) rs899266809
NM_024334.2(TMEM43):c.244C>G (p.Pro82Ala) rs148171303
NM_024334.2(TMEM43):c.265G>A (p.Val89Met) rs147319971
NM_024334.2(TMEM43):c.267G>A (p.Val89=) rs763697982
NM_024334.2(TMEM43):c.271A>G (p.Ile91Val) rs144811578
NM_024334.2(TMEM43):c.275T>C (p.Ile92Thr) rs555913548
NM_024334.2(TMEM43):c.279C>T (p.Gly93=) rs149883381
NM_024334.2(TMEM43):c.280G>A (p.Ala94Thr) rs369142200
NM_024334.2(TMEM43):c.286C>G (p.Arg96Gly) rs754797146
NM_024334.2(TMEM43):c.296A>G (p.Lys99Arg) rs199943048
NM_024334.2(TMEM43):c.329T>C (p.Leu110Pro) rs1553602985
NM_024334.2(TMEM43):c.333G>A (p.Pro111=) rs774276092
NM_024334.2(TMEM43):c.347G>A (p.Arg116Gln) rs143535006
NM_024334.2(TMEM43):c.361A>G (p.Met121Val) rs369878538
NM_024334.2(TMEM43):c.392+9T>C rs780392028
NM_024334.2(TMEM43):c.393-4G>T rs1247757810
NM_024334.2(TMEM43):c.396G>C (p.Glu132Asp) rs1553603024
NM_024334.2(TMEM43):c.402C>T (p.Thr134=) rs370422391
NM_024334.2(TMEM43):c.403G>A (p.Glu135Lys) rs140347235
NM_024334.2(TMEM43):c.418_420AAG[1] (p.Lys141del) rs746639451
NM_024334.2(TMEM43):c.424G>A (p.Glu142Lys) rs145619906
NM_024334.2(TMEM43):c.428C>T (p.Thr143Met) rs544554435
NM_024334.2(TMEM43):c.429G>A (p.Thr143=) rs201217046
NM_024334.2(TMEM43):c.442+7G>A rs373590238
NM_024334.2(TMEM43):c.45C>A (p.Val15=) rs150334659
NM_024334.2(TMEM43):c.45C>G (p.Val15=) rs150334659
NM_024334.2(TMEM43):c.464_466TCA[1] (p.Ile156del)
NM_024334.2(TMEM43):c.484G>A (p.Asp162Asn) rs150425166
NM_024334.2(TMEM43):c.487C>T (p.Arg163Ter)
NM_024334.2(TMEM43):c.488G>A (p.Arg163Gln) rs759676847
NM_024334.2(TMEM43):c.497G>C (p.Gly166Ala) rs767516734
NM_024334.2(TMEM43):c.499C>G (p.His167Asp) rs1553603052
NM_024334.2(TMEM43):c.49G>A (p.Val17Ile)
NM_024334.2(TMEM43):c.516C>T (p.Ala172=) rs148432515
NM_024334.2(TMEM43):c.53A>G (p.Lys18Arg) rs1214893591
NM_024334.2(TMEM43):c.545C>T (p.Ala182Val) rs1394010451
NM_024334.2(TMEM43):c.556C>T (p.Gln186Ter) rs1553603107
NM_024334.2(TMEM43):c.564C>T (p.Gly188=) rs143124744
NM_024334.2(TMEM43):c.578C>T (p.Ser193Leu) rs140380494
NM_024334.2(TMEM43):c.579G>A (p.Ser193=) rs369319499
NM_024334.2(TMEM43):c.583+4A>G
NM_024334.2(TMEM43):c.591C>T (p.Ile197=) rs145024252
NM_024334.2(TMEM43):c.640C>G (p.Pro214Ala)
NM_024334.2(TMEM43):c.644A>C (p.His215Pro) rs730880225
NM_024334.2(TMEM43):c.644A>T (p.His215Leu)
NM_024334.2(TMEM43):c.645T>C (p.His215=) rs370782259
NM_024334.2(TMEM43):c.659G>A (p.Arg220His) rs570836197
NM_024334.2(TMEM43):c.65dup (p.Pro23fs) rs1300909566
NM_024334.2(TMEM43):c.664G>A (p.Gly222Arg)
NM_024334.2(TMEM43):c.675C>G (p.Phe225Leu) rs1559361776
NM_024334.2(TMEM43):c.692C>T (p.Pro231Leu) rs533275736
NM_024334.2(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492
NM_024334.2(TMEM43):c.703G>A (p.Glu235Lys)
NM_024334.2(TMEM43):c.705+7G>A rs201916031
NM_024334.2(TMEM43):c.718C>T (p.Arg240Cys) rs367910936
NM_024334.2(TMEM43):c.748G>A (p.Gly250Ser) rs371797765
NM_024334.2(TMEM43):c.750C>T (p.Gly250=) rs374222050
NM_024334.2(TMEM43):c.777C>T (p.His259=) rs143958148
NM_024334.2(TMEM43):c.796C>T (p.Arg266Trp) rs139842014
NM_024334.2(TMEM43):c.797G>A (p.Arg266Gln) rs193922707
NM_024334.2(TMEM43):c.798G>A (p.Arg266=) rs139078900
NM_024334.2(TMEM43):c.802C>T (p.Arg268Trp) rs201138253
NM_024334.2(TMEM43):c.803G>T (p.Arg268Leu) rs769969149
NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.2(TMEM43):c.83G>A (p.Arg28Gln) rs757651177
NM_024334.2(TMEM43):c.859C>T (p.His287Tyr) rs780299346
NM_024334.2(TMEM43):c.865G>A (p.Gly289Arg) rs730880226
NM_024334.2(TMEM43):c.877G>A (p.Ala293Thr) rs1060501357
NM_024334.2(TMEM43):c.896G>C (p.Arg299Thr) rs139590716
NM_024334.2(TMEM43):c.909C>T (p.Ser303=) rs35100587
NM_024334.2(TMEM43):c.917_918delinsCT (p.Met306Thr) rs1553603453
NM_024334.2(TMEM43):c.91G>A (p.Glu31Lys) rs754536393
NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024334.2(TMEM43):c.940G>C (p.Ala314Pro)
NM_024334.2(TMEM43):c.947G>C (p.Trp316Ser) rs199526104
NM_024334.2(TMEM43):c.953C>T (p.Ala318Val) rs11924644
NM_024334.2(TMEM43):c.961A>G (p.Met321Val) rs397517387
NM_024334.2(TMEM43):c.965G>T (p.Gly322Val) rs1553603462
NM_024334.2(TMEM43):c.971del (p.Asn324fs) rs1553603465
NM_024334.2(TMEM43):c.973C>T (p.Leu325Phe)
NM_024334.2(TMEM43):c.980C>G (p.Thr327Arg) rs368111230
NM_024334.2(TMEM43):c.981A>G (p.Thr327=) rs764960823
NM_024334.2(TMEM43):c.985A>C (p.Ile329Leu) rs1060501358
NM_024334.2(TMEM43):c.98C>T (p.Ser33Leu) rs539753097
NM_024334.2(TMEM43):c.997T>G (p.Leu333Val)

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