ClinVar Miner

List of variants in gene TMEM43 studied for not provided

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Gene type:
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Total variants: 99
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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
NM_024334.2(TMEM43):c.-300T>C rs2733578
NM_024334.2(TMEM43):c.1000+261G>A rs80345392
NM_024334.2(TMEM43):c.1001-3C>T rs1553603640
NM_024334.2(TMEM43):c.1001-41G>A rs9874135
NM_024334.2(TMEM43):c.1090G>A (p.Val364Met) rs754236206
NM_024334.2(TMEM43):c.1100G>A (p.Gly367Asp) rs794729179
NM_024334.2(TMEM43):c.1115G>A (p.Arg372Gln) rs749140979
NM_024334.2(TMEM43):c.12+130C>T rs2733579
NM_024334.2(TMEM43):c.12+167C>T rs2733580
NM_024334.2(TMEM43):c.121A>G (p.Met41Val) rs144334386
NM_024334.2(TMEM43):c.162+147C>T rs11711816
NM_024334.2(TMEM43):c.162+227A>G rs147094114
NM_024334.2(TMEM43):c.163-247C>T rs6798807
NM_024334.2(TMEM43):c.163-3del rs371706980
NM_024334.2(TMEM43):c.164G>A (p.Gly55Asp) rs201453637
NM_024334.2(TMEM43):c.169G>A (p.Ala57Thr) rs151010429
NM_024334.2(TMEM43):c.206C>T (p.Ser69Leu) rs369779779
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.244C>G (p.Pro82Ala) rs148171303
NM_024334.2(TMEM43):c.267G>A (p.Val89=) rs763697982
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.298-106C>T rs3964375
NM_024334.2(TMEM43):c.298-253C>T rs17038942
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.392+121C>G rs56779598
NM_024334.2(TMEM43):c.392+254C>T rs144260204
NM_024334.2(TMEM43):c.393-83G>T rs4685074
NM_024334.2(TMEM43):c.410G>C (p.Gly137Ala) rs760628106
NM_024334.2(TMEM43):c.418_420AAG[1] (p.Lys141del) rs746639451
NM_024334.2(TMEM43):c.424G>C (p.Glu142Gln) rs145619906
NM_024334.2(TMEM43):c.442+51T>C rs4685075
NM_024334.2(TMEM43):c.443-12C>G rs368555747
NM_024334.2(TMEM43):c.443-48G>A rs41284009
NM_024334.2(TMEM43):c.509C>G (p.Pro170Arg) rs794729181
NM_024334.2(TMEM43):c.513-125C>T rs78384995
NM_024334.2(TMEM43):c.513-285T>C rs116264282
NM_024334.2(TMEM43):c.513-9C>G rs369551282
NM_024334.2(TMEM43):c.578C>T (p.Ser193Leu) rs140380494
NM_024334.2(TMEM43):c.62C>T (p.Ser21Phe) rs794729183
NM_024334.2(TMEM43):c.644A>C (p.His215Pro) rs730880225
NM_024334.2(TMEM43):c.659G>A (p.Arg220His) rs570836197
NM_024334.2(TMEM43):c.661C>T (p.Arg221Cys) rs182464375
NM_024334.2(TMEM43):c.692C>T (p.Pro231Leu) rs533275736
NM_024334.2(TMEM43):c.705+55G>A rs6766740
NM_024334.2(TMEM43):c.751G>A (p.Asp251Asn) rs375481688
NM_024334.2(TMEM43):c.777C>T (p.His259=) rs143958148
NM_024334.2(TMEM43):c.781-113T>C rs2607765
NM_024334.2(TMEM43):c.781-278A>G rs78942892
NM_024334.2(TMEM43):c.796C>T (p.Arg266Trp) rs139842014
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.853C>T (p.Leu285Phe) rs186530498
NM_024334.2(TMEM43):c.859C>T (p.His287Tyr) rs780299346
NM_024334.2(TMEM43):c.882+25G>A rs190262194
NM_024334.2(TMEM43):c.882+336A>C rs75263282
NM_024334.2(TMEM43):c.883-128A>G rs2607767
NM_024334.2(TMEM43):c.883-340C>T rs114149034
NM_024334.2(TMEM43):c.883-47C>T rs2731320
NM_024334.2(TMEM43):c.96C>T (p.Thr32=) rs1021721320
NM_024334.2(TMEM43):c.981A>G (p.Thr327=) rs764960823
NM_024334.2(TMEM43):c.99G>A (p.Ser33=) rs147710692
NM_024334.3(TMEM43):c.1041C>T (p.Gly347=) rs1574942089
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972
NM_024334.3(TMEM43):c.1164T>C (p.Leu388=) rs1035334505
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys) rs201094625
NM_024334.3(TMEM43):c.213G>T (p.Val71=) rs756764750
NM_024334.3(TMEM43):c.216G>A (p.Val72=) rs943527392
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578
NM_024334.3(TMEM43):c.273C>T (p.Ile91=) rs764733979
NM_024334.3(TMEM43):c.30C>T (p.Thr10=) rs757554576
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748
NM_024334.3(TMEM43):c.392+6C>T rs1574937711
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg) rs397517384
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter) rs1423539317
NM_024334.3(TMEM43):c.520G>A (p.Ala174Thr) rs397517385
NM_024334.3(TMEM43):c.573C>T (p.Phe191=) rs1276996116
NM_024334.3(TMEM43):c.576C>T (p.Leu192=) rs1574938735
NM_024334.3(TMEM43):c.583+10A>T rs760105643
NM_024334.3(TMEM43):c.600C>T (p.Val200=) rs760323011
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala) rs397517386
NM_024334.3(TMEM43):c.631C>T (p.Leu211=) rs1209223184
NM_024334.3(TMEM43):c.679C>G (p.His227Asp) rs201460674
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492
NM_024334.3(TMEM43):c.69A>C (p.Pro23=) rs767619018
NM_024334.3(TMEM43):c.705+7G>A rs201916031
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936
NM_024334.3(TMEM43):c.763C>T (p.Leu255=) rs761968722
NM_024334.3(TMEM43):c.801G>A (p.Gln267=) rs1258459178
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644

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