ClinVar Miner

List of variants in gene TMEM43 reported as uncertain significance by Color

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Total variants: 150
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HGVS dbSNP
NM_024334.2(TMEM43):c.-4C>T rs760598925
NM_024334.2(TMEM43):c.1000+2T>C rs748618994
NM_024334.2(TMEM43):c.1019T>C (p.Phe340Ser) rs1559363663
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>T (p.Cys354Phe) rs187262922
NM_024334.2(TMEM43):c.1090G>A (p.Val364Met) rs754236206
NM_024334.2(TMEM43):c.1112A>G (p.Tyr371Cys) rs752269639
NM_024334.2(TMEM43):c.112G>A (p.Val38Met) rs977468112
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) rs1574942204
NM_024334.2(TMEM43):c.1177C>T (p.Arg393Trp) rs765762863
NM_024334.2(TMEM43):c.118C>G (p.Leu40Val) rs755682525
NM_024334.2(TMEM43):c.121A>G (p.Met41Val) rs144334386
NM_024334.2(TMEM43):c.143A>C (p.Tyr48Ser) rs1553602871
NM_024334.2(TMEM43):c.214G>A (p.Val72Met) rs368603914
NM_024334.2(TMEM43):c.223G>A (p.Asp75Asn) rs138764471
NM_024334.2(TMEM43):c.244C>G (p.Pro82Ala) rs148171303
NM_024334.2(TMEM43):c.31C>T (p.Arg11Trp) rs201085402
NM_024334.2(TMEM43):c.32G>A (p.Arg11Gln) rs568179990
NM_024334.2(TMEM43):c.344T>C (p.Leu115Pro) rs376182664
NM_024334.2(TMEM43):c.392+1G>T rs1559360791
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.47A>T (p.Lys16Ile) rs770619613
NM_024334.2(TMEM43):c.487C>T (p.Arg163Ter) rs147336367
NM_024334.2(TMEM43):c.497G>C (p.Gly166Ala) rs767516734
NM_024334.2(TMEM43):c.53A>G (p.Lys18Arg) rs1214893591
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.578C>T (p.Ser193Leu) rs140380494
NM_024334.2(TMEM43):c.644A>C (p.His215Pro) rs730880225
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.661C>T (p.Arg221Cys) rs182464375
NM_024334.2(TMEM43):c.664G>A (p.Gly222Arg) rs746183974
NM_024334.2(TMEM43):c.682A>T (p.Ser228Cys) rs776147178
NM_024334.2(TMEM43):c.705+5G>T rs754716462
NM_024334.2(TMEM43):c.751G>A (p.Asp251Asn) rs375481688
NM_024334.2(TMEM43):c.778G>A (p.Val260Met) rs758872772
NM_024334.2(TMEM43):c.796C>T (p.Arg266Trp) rs139842014
NM_024334.2(TMEM43):c.803G>T (p.Arg268Leu) rs769969149
NM_024334.2(TMEM43):c.83G>A (p.Arg28Gln) rs757651177
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.865G>A (p.Gly289Arg) rs730880226
NM_024334.2(TMEM43):c.892C>G (p.His298Asp) rs1559363073
NM_024334.2(TMEM43):c.91G>A (p.Glu31Lys) rs754536393
NM_024334.2(TMEM43):c.980C>G (p.Thr327Arg) rs368111230
NM_024334.2(TMEM43):c.98C>T (p.Ser33Leu) rs539753097
NM_024334.3(TMEM43):c.-3A>G
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu)
NM_024334.3(TMEM43):c.1015_1016dup (p.Arg341fs)
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887
NM_024334.3(TMEM43):c.1022G>A (p.Arg341Gln)
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val)
NM_024334.3(TMEM43):c.1067C>T (p.Ala356Val)
NM_024334.3(TMEM43):c.1072T>C (p.Ser358Pro)
NM_024334.3(TMEM43):c.1085T>G (p.Leu362Arg)
NM_024334.3(TMEM43):c.108G>A (p.Met36Ile)
NM_024334.3(TMEM43):c.109T>C (p.Phe37Leu)
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046
NM_024334.3(TMEM43):c.110T>G (p.Phe37Cys)
NM_024334.3(TMEM43):c.1120del (p.Leu374fs)
NM_024334.3(TMEM43):c.1135A>G (p.Ile379Val)
NM_024334.3(TMEM43):c.1149_1150delinsTA (p.Leu384Ile)
NM_024334.3(TMEM43):c.1150C>T (p.Leu384Phe)
NM_024334.3(TMEM43):c.1168G>T (p.Ala390Ser)
NM_024334.3(TMEM43):c.1172G>A (p.Arg391Gln)
NM_024334.3(TMEM43):c.1180G>A (p.Val394Met)
NM_024334.3(TMEM43):c.1184C>A (p.Pro395Gln)
NM_024334.3(TMEM43):c.1187C>T (p.Ala396Val)
NM_024334.3(TMEM43):c.1198G>T (p.Glu400Ter)
NM_024334.3(TMEM43):c.12+1G>A
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His) rs727505249
NM_024334.3(TMEM43):c.162+1G>A
NM_024334.3(TMEM43):c.162G>C (p.Glu54Asp)
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys) rs201094625
NM_024334.3(TMEM43):c.167G>A (p.Arg56His)
NM_024334.3(TMEM43):c.169G>T (p.Ala57Ser)
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly)
NM_024334.3(TMEM43):c.193G>T (p.Ala65Ser)
NM_024334.3(TMEM43):c.208C>T (p.Leu70Phe)
NM_024334.3(TMEM43):c.220C>T (p.Pro74Ser)
NM_024334.3(TMEM43):c.227G>A (p.Ser76Asn)
NM_024334.3(TMEM43):c.231C>G (p.Ile77Met)
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu)
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr) rs369142200
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln)
NM_024334.3(TMEM43):c.298-7T>A
NM_024334.3(TMEM43):c.310C>G (p.Pro104Ala)
NM_024334.3(TMEM43):c.316T>C (p.Tyr106His)
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly)
NM_024334.3(TMEM43):c.349A>T (p.Arg117Trp)
NM_024334.3(TMEM43):c.353A>G (p.His118Arg)
NM_024334.3(TMEM43):c.362T>C (p.Met121Thr)
NM_024334.3(TMEM43):c.362T>G (p.Met121Arg)
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile)
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg) rs397517384
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435
NM_024334.3(TMEM43):c.440A>G (p.Tyr147Cys)
NM_024334.3(TMEM43):c.440A>T (p.Tyr147Phe)
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter) rs1423539317
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu)
NM_024334.3(TMEM43):c.463A>G (p.Ile155Val)
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn) rs150425166
NM_024334.3(TMEM43):c.485A>G (p.Asp162Gly)
NM_024334.3(TMEM43):c.48A>C (p.Lys16Asn)
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp)
NM_024334.3(TMEM43):c.496G>C (p.Gly166Arg)
NM_024334.3(TMEM43):c.507C>G (p.Asn169Lys)
NM_024334.3(TMEM43):c.50T>C (p.Val17Ala)
NM_024334.3(TMEM43):c.518T>C (p.Met173Thr)
NM_024334.3(TMEM43):c.530C>T (p.Ser177Leu)
NM_024334.3(TMEM43):c.544G>A (p.Ala182Thr)
NM_024334.3(TMEM43):c.568T>A (p.Phe190Ile)
NM_024334.3(TMEM43):c.584-14del
NM_024334.3(TMEM43):c.592G>A (p.Asp198Asn)
NM_024334.3(TMEM43):c.609del (p.Phe203fs)
NM_024334.3(TMEM43):c.626C>T (p.Ser209Phe)
NM_024334.3(TMEM43):c.645T>G (p.His215Gln)
NM_024334.3(TMEM43):c.646G>A (p.Val216Met)
NM_024334.3(TMEM43):c.646G>T (p.Val216Leu)
NM_024334.3(TMEM43):c.654C>G (p.Ile218Met)
NM_024334.3(TMEM43):c.670T>C (p.Phe224Leu)
NM_024334.3(TMEM43):c.679C>G (p.His227Asp) rs201460674
NM_024334.3(TMEM43):c.699T>A (p.Tyr233Ter)
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser)
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala)
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys)
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
NM_024334.3(TMEM43):c.743T>C (p.Leu248Pro)
NM_024334.3(TMEM43):c.781G>A (p.Val261Ile)
NM_024334.3(TMEM43):c.788_789del (p.Val263fs)
NM_024334.3(TMEM43):c.822_824del (p.Phe275del)
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg)
NM_024334.3(TMEM43):c.852_853delinsAA (p.Leu285Ile)
NM_024334.3(TMEM43):c.86T>C (p.Leu29Pro)
NM_024334.3(TMEM43):c.893A>C (p.His298Pro)
NM_024334.3(TMEM43):c.898G>T (p.Glu300Ter)
NM_024334.3(TMEM43):c.914C>A (p.Ser305Tyr)
NM_024334.3(TMEM43):c.935G>A (p.Arg312Gln)
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104
NM_024334.3(TMEM43):c.959T>G (p.Phe320Cys)
NM_024334.3(TMEM43):c.970A>G (p.Asn324Asp)
NM_024334.3(TMEM43):c.982C>T (p.Arg328Trp)
NM_024334.3(TMEM43):c.995C>A (p.Thr332Asn)
NM_024334.3(TMEM43):c.995C>T (p.Thr332Ile)

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