ClinVar Miner

List of variants in gene TMEM43

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Gene type:
ClinVar version:
Total variants: 286
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HGVS dbSNP
GRCh37/hg19 3p25.1(chr3:14177954-14183188)x1
GRCh37/hg19 3p25.1(chr3:14177954-14183410)x1
GRCh37/hg19 3p25.1(chr3:14178271-14183758)x1
GRCh37/hg19 3p25.1(chr3:14178300-14183758)x1
NC_000003.11:g.(?_14166440)_(14185180_?)dup
NM_024334.2(TMEM43):c.*1028A>G rs58199833
NM_024334.2(TMEM43):c.*1054_*1058del rs550702296
NM_024334.2(TMEM43):c.*1080G>T rs886058035
NM_024334.2(TMEM43):c.*1115C>T rs373956484
NM_024334.2(TMEM43):c.*1161C>A rs886058036
NM_024334.2(TMEM43):c.*1352_*1357del rs71699966
NM_024334.2(TMEM43):c.*1452C>A rs185974653
NM_024334.2(TMEM43):c.*1535T>C rs886058038
NM_024334.2(TMEM43):c.*1584G>T rs886058039
NM_024334.2(TMEM43):c.*1642T>G rs886058040
NM_024334.2(TMEM43):c.*1677dup rs886058041
NM_024334.2(TMEM43):c.*1700G>T rs886058042
NM_024334.2(TMEM43):c.*1770A>G rs746279849
NM_024334.2(TMEM43):c.*1809T>A rs190531956
NM_024334.2(TMEM43):c.*1836A>G rs143620402
NM_024334.2(TMEM43):c.*1867A>G rs886058043
NM_024334.2(TMEM43):c.*1884T>C rs886058044
NM_024334.2(TMEM43):c.*20C>T rs369461997
NM_024334.2(TMEM43):c.*262C>T rs533189312
NM_024334.2(TMEM43):c.*270T>C rs886058032
NM_024334.2(TMEM43):c.*342C>T rs558776660
NM_024334.2(TMEM43):c.*656G>A rs559809675
NM_024334.2(TMEM43):c.*738G>A rs886058033
NM_024334.2(TMEM43):c.*806A>C rs58476065
NM_024334.2(TMEM43):c.*849T>C rs886058034
NM_024334.2(TMEM43):c.*850G>A rs145011666
NM_024334.2(TMEM43):c.*8C>T rs192707412
NM_024334.2(TMEM43):c.*93C>T rs886058031
NM_024334.2(TMEM43):c.-11C>T rs767001935
NM_024334.2(TMEM43):c.-130G>A rs886058029
NM_024334.2(TMEM43):c.-142G>A rs17038940
NM_024334.2(TMEM43):c.-154G>T rs886058028
NM_024334.2(TMEM43):c.-175G>A rs886058027
NM_024334.2(TMEM43):c.-190T>C rs886058026
NM_024334.2(TMEM43):c.-204T>C rs886058025
NM_024334.2(TMEM43):c.-2C>T rs754747623
NM_024334.2(TMEM43):c.-300T>C
NM_024334.2(TMEM43):c.-3A>T rs763829810
NM_024334.2(TMEM43):c.-4C>T rs760598925
NM_024334.2(TMEM43):c.-6C>T rs1281893880
NM_024334.2(TMEM43):c.1000+12G>A rs749592639
NM_024334.2(TMEM43):c.1000+261G>A
NM_024334.2(TMEM43):c.1000+2T>C rs748618994
NM_024334.2(TMEM43):c.1000+5G>T rs376589026
NM_024334.2(TMEM43):c.1001-3C>T rs1553603640
NM_024334.2(TMEM43):c.1001-41G>A
NM_024334.2(TMEM43):c.1004A>G (p.Asp335Gly) rs1553603641
NM_024334.2(TMEM43):c.1019T>C (p.Phe340Ser) rs1559363663
NM_024334.2(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887
NM_024334.2(TMEM43):c.1026C>A (p.Asp342Glu) rs376514478
NM_024334.2(TMEM43):c.1059C>G (p.Phe353Leu) rs730880227
NM_024334.2(TMEM43):c.1061G>A (p.Cys354Tyr) rs187262922
NM_024334.2(TMEM43):c.1061G>C (p.Cys354Ser) rs187262922
NM_024334.2(TMEM43):c.1061G>T (p.Cys354Phe)
NM_024334.2(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.2(TMEM43):c.1090G>A (p.Val364Met) rs754236206
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.1100G>A (p.Gly367Asp) rs794729179
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.1114C>T (p.Arg372Ter) rs773224617
NM_024334.2(TMEM43):c.1115G>A (p.Arg372Gln) rs749140979
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.1164T>G (p.Leu388=) rs1035334505
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.12+130C>T
NM_024334.2(TMEM43):c.12+167C>T
NM_024334.2(TMEM43):c.121A>G (p.Met41Val) rs144334386
NM_024334.2(TMEM43):c.136T>C (p.Ser46Pro) rs145510310
NM_024334.2(TMEM43):c.13T>C (p.Tyr5His) rs727505249
NM_024334.2(TMEM43):c.143A>C (p.Tyr48Ser) rs1553602871
NM_024334.2(TMEM43):c.147A>G (p.Leu49=) rs727504629
NM_024334.2(TMEM43):c.162+147C>T
NM_024334.2(TMEM43):c.162+227A>G
NM_024334.2(TMEM43):c.163-14C>T rs113745859
NM_024334.2(TMEM43):c.163-1G>C rs1060499911
NM_024334.2(TMEM43):c.163-247C>T
NM_024334.2(TMEM43):c.163-3del 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.186C>G (p.Thr62=) rs773764939
NM_024334.2(TMEM43):c.189A>G (p.Ser63=) rs934304715
NM_024334.2(TMEM43):c.1A>G (p.Met1Val) rs757083718
NM_024334.2(TMEM43):c.203T>C (p.Leu68Pro) rs1553602940
NM_024334.2(TMEM43):c.206C>T (p.Ser69Leu) rs369779779
NM_024334.2(TMEM43):c.207G>A (p.Ser69=) rs886058030
NM_024334.2(TMEM43):c.214G>A (p.Val72Met) rs368603914
NM_024334.2(TMEM43):c.218C>A (p.Ser73Tyr) rs200652985
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.237T>C (p.Ser79=) rs1559360551
NM_024334.2(TMEM43):c.244C>G (p.Pro82Ala) rs148171303
NM_024334.2(TMEM43):c.246G>A (p.Pro82=) rs376098518
NM_024334.2(TMEM43):c.253G>A (p.Glu85Lys) rs397514044
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.297+13G>A rs397517381
NM_024334.2(TMEM43):c.298-106C>T
NM_024334.2(TMEM43):c.298-253C>T
NM_024334.2(TMEM43):c.31C>T (p.Arg11Trp) rs201085402
NM_024334.2(TMEM43):c.323T>C (p.Val108Ala) rs182351748
NM_024334.2(TMEM43):c.329T>C (p.Leu110Pro) rs1553602985
NM_024334.2(TMEM43):c.32G>A (p.Arg11Gln) rs568179990
NM_024334.2(TMEM43):c.333G>A (p.Pro111=) rs774276092
NM_024334.2(TMEM43):c.337G>A (p.Val113Met) rs572474708
NM_024334.2(TMEM43):c.344T>C (p.Leu115Pro) rs376182664
NM_024334.2(TMEM43):c.346C>A (p.Arg116=) rs752588115
NM_024334.2(TMEM43):c.347G>A (p.Arg116Gln) rs143535006
NM_024334.2(TMEM43):c.35G>A (p.Arg12Lys) rs1559359985
NM_024334.2(TMEM43):c.361A>G (p.Met121Val) rs369878538
NM_024334.2(TMEM43):c.381T>C (p.Thr127=) rs778409275
NM_024334.2(TMEM43):c.392+121C>G
NM_024334.2(TMEM43):c.392+16G>A rs150859949
NM_024334.2(TMEM43):c.392+1G>T rs1559360791
NM_024334.2(TMEM43):c.392+254C>T
NM_024334.2(TMEM43):c.392+4A>G rs397517382
NM_024334.2(TMEM43):c.392+9T>C rs780392028
NM_024334.2(TMEM43):c.393-4G>T rs1247757810
NM_024334.2(TMEM43):c.393-83G>T
NM_024334.2(TMEM43):c.396G>C (p.Glu132Asp) rs1553603024
NM_024334.2(TMEM43):c.399C>T (p.Tyr133=) rs876657589
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.410G>A (p.Gly137Glu) rs760628106
NM_024334.2(TMEM43):c.410G>C (p.Gly137Ala) rs760628106
NM_024334.2(TMEM43):c.413A>G (p.Gln138Arg) rs397517384
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.424G>C (p.Glu142Gln) 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+12G>C rs530183718
NM_024334.2(TMEM43):c.442+51T>C
NM_024334.2(TMEM43):c.442+7G>A rs373590238
NM_024334.2(TMEM43):c.443-12C>G
NM_024334.2(TMEM43):c.443-48G>A
NM_024334.2(TMEM43):c.443-9C>T rs371866082
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.47A>T (p.Lys16Ile) rs770619613
NM_024334.2(TMEM43):c.484G>A (p.Asp162Asn) rs150425166
NM_024334.2(TMEM43):c.486_489del (p.Asp162fs) rs1060499910
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.504A>T (p.Lys168Asn) rs4685076
NM_024334.2(TMEM43):c.509C>G (p.Pro170Arg) rs794729181
NM_024334.2(TMEM43):c.512+12G>A rs766205020
NM_024334.2(TMEM43):c.512+19G>A rs114026215
NM_024334.2(TMEM43):c.512+19G>T rs114026215
NM_024334.2(TMEM43):c.513-125C>T
NM_024334.2(TMEM43):c.513-20C>T rs1054904116
NM_024334.2(TMEM43):c.513-285T>C
NM_024334.2(TMEM43):c.513-9C>G rs369551282
NM_024334.2(TMEM43):c.516C>T (p.Ala172=) rs148432515
NM_024334.2(TMEM43):c.51T>G (p.Val17=) rs397517383
NM_024334.2(TMEM43):c.520G>A (p.Ala174Thr) rs397517385
NM_024334.2(TMEM43):c.536T>C (p.Met179Thr) rs2340917
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.548C>T (p.Pro183Leu) rs746116143
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+3A>G rs876658021
NM_024334.2(TMEM43):c.583+4A>G
NM_024334.2(TMEM43):c.584-5dup rs1553603140
NM_024334.2(TMEM43):c.591C>T (p.Ile197=) rs145024252
NM_024334.2(TMEM43):c.601G>A (p.Asp201Asn) rs138182276
NM_024334.2(TMEM43):c.625T>G (p.Ser209Ala) rs397517386
NM_024334.2(TMEM43):c.626C>A (p.Ser209Tyr) rs1553603146
NM_024334.2(TMEM43):c.62C>T (p.Ser21Phe) rs794729183
NM_024334.2(TMEM43):c.630G>A (p.Lys210=) rs1057523392
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.658C>T (p.Arg220Cys) rs562700595
NM_024334.2(TMEM43):c.659G>A (p.Arg220His) rs570836197
NM_024334.2(TMEM43):c.65dup (p.Pro23fs) rs1300909566
NM_024334.2(TMEM43):c.661C>T (p.Arg221Cys) rs182464375
NM_024334.2(TMEM43):c.664G>A (p.Gly222Arg)
NM_024334.2(TMEM43):c.675C>G (p.Phe225Leu) rs1559361776
NM_024334.2(TMEM43):c.682A>T (p.Ser228Cys) rs776147178
NM_024334.2(TMEM43):c.684C>T (p.Ser228=) rs371019231
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+55G>A
NM_024334.2(TMEM43):c.705+5G>T rs754716462
NM_024334.2(TMEM43):c.705+7G>A rs201916031
NM_024334.2(TMEM43):c.718C>T (p.Arg240Cys) rs367910936
NM_024334.2(TMEM43):c.718_719delinsGA (p.Arg240Asp) rs1553603172
NM_024334.2(TMEM43):c.747C>T (p.Ser249=) rs549809535
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.751G>A (p.Asp251Asn) rs375481688
NM_024334.2(TMEM43):c.763C>T
NM_024334.2(TMEM43):c.777C>T (p.His259=) rs143958148
NM_024334.2(TMEM43):c.778G>A (p.Val260Met) rs758872772
NM_024334.2(TMEM43):c.780+16A>G rs146077457
NM_024334.2(TMEM43):c.781-113T>C
NM_024334.2(TMEM43):c.781-13G>T rs202207425
NM_024334.2(TMEM43):c.781-278A>G
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>A
NM_024334.2(TMEM43):c.803G>T (p.Arg268Leu) rs769969149
NM_024334.2(TMEM43):c.829A>T (p.Thr277Ser) rs532872056
NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.2(TMEM43):c.839G>A (p.Gly280Glu) rs1559362201
NM_024334.2(TMEM43):c.83G>A (p.Arg28Gln) rs757651177
NM_024334.2(TMEM43):c.83_87delinsAGGA (p.Arg28fs) rs794729182
NM_024334.2(TMEM43):c.850C>G (p.Leu284Val) rs727504764
NM_024334.2(TMEM43):c.853C>T (p.Leu285Phe) rs186530498
NM_024334.2(TMEM43):c.859C>T (p.His287Tyr) rs780299346
NM_024334.2(TMEM43):c.861C>G (p.His287Gln) rs886039048
NM_024334.2(TMEM43):c.864C>T (p.His288=) rs377585035
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.882+17A>G rs370443570
NM_024334.2(TMEM43):c.882+25G>A rs190262194
NM_024334.2(TMEM43):c.882+336A>C
NM_024334.2(TMEM43):c.882+3G>A rs1057524625
NM_024334.2(TMEM43):c.883-128A>G
NM_024334.2(TMEM43):c.883-15C>A rs727504984
NM_024334.2(TMEM43):c.883-340C>T
NM_024334.2(TMEM43):c.883-47C>T
NM_024334.2(TMEM43):c.892C>G (p.His298Asp) rs1559363073
NM_024334.2(TMEM43):c.893A>G (p.His298Arg) rs1285837389
NM_024334.2(TMEM43):c.896G>C (p.Arg299Thr) rs139590716
NM_024334.2(TMEM43):c.89G>A (p.Ser30Asn) rs570799464
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.921G>A (p.Lys307=) rs201771608
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.964G>A (p.Gly322Ser) rs1231932407
NM_024334.2(TMEM43):c.965G>T (p.Gly322Val) rs1553603462
NM_024334.2(TMEM43):c.96C>T (p.Thr32=) rs1021721320
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.983G>A (p.Arg328Gln) rs185611706
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)
NM_024334.2(TMEM43):c.99G>A (p.Ser33=) rs147710692

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