ClinVar Miner

List of variants in gene TMEM43 studied for not specified

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Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr) rs2340917 0.35127
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn) rs4685076 0.29043
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_024334.3(TMEM43):c.909C>T (p.Ser303=) rs35100587 0.02012
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_024334.3(TMEM43):c.162+21C>T rs137975239 0.00388
NM_024334.3(TMEM43):c.*8C>T rs192707412 0.00225
NM_024334.3(TMEM43):c.392+16G>A rs150859949 0.00100
NM_024334.3(TMEM43):c.163-6T>A rs372434224 0.00088
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00069
NM_024334.3(TMEM43):c.780+16A>G rs146077457 0.00065
NM_024334.3(TMEM43):c.*16C>T rs3796310 0.00061
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046 0.00046
NM_024334.3(TMEM43):c.516C>T (p.Ala172=) rs148432515 0.00045
NM_024334.3(TMEM43):c.279C>T (p.Gly93=) rs149883381 0.00044
NM_024334.3(TMEM43):c.45C>A (p.Val15=) rs150334659 0.00041
NM_024334.3(TMEM43):c.777C>T (p.His259=) rs143958148 0.00036
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn) rs150425166 0.00035
NM_024334.3(TMEM43):c.442+7G>A rs373590238 0.00031
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_024334.3(TMEM43):c.564C>T (p.Gly188=) rs143124744 0.00024
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=) rs141675061 0.00021
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln) rs143535006 0.00021
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr) rs139590716 0.00021
NM_024334.3(TMEM43):c.361A>G (p.Met121Val) rs369878538 0.00017
NM_024334.3(TMEM43):c.443-9C>T rs371866082 0.00017
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr) rs369142200 0.00014
NM_024334.3(TMEM43):c.864C>T (p.His288=) rs377585035 0.00014
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_024334.3(TMEM43):c.429G>A (p.Thr143=) rs201217046 0.00011
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578 0.00009
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_024334.3(TMEM43):c.-4C>T rs760598925 0.00007
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp) rs201138253 0.00006
NM_024334.3(TMEM43):c.921G>A (p.Lys307=) rs201771608 0.00006
NM_024334.3(TMEM43):c.442+12G>C rs530183718 0.00005
NM_024334.3(TMEM43):c.882+17A>G rs370443570 0.00005
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys) rs201094625 0.00004
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391 0.00004
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg) rs397517384 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024334.3(TMEM43):c.-2C>T rs754747623 0.00003
NM_024334.3(TMEM43):c.1000+12G>A rs749592639 0.00003
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.512+12G>A rs766205020 0.00003
NM_024334.3(TMEM43):c.684C>T (p.Ser228=) rs371019231 0.00003
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu) rs533275736 0.00003
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln) rs757651177 0.00003
NM_024334.3(TMEM43):c.96C>T (p.Thr32=) rs1021721320 0.00003
NM_024334.3(TMEM43):c.1000+5G>T rs376589026 0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 0.00002
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala) rs397517386 0.00002
NM_024334.3(TMEM43):c.747C>T (p.Ser249=) rs549809535 0.00002
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser) rs532872056 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.1120_1121del (p.Leu374fs) rs746672224 0.00001
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602 0.00001
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His) rs727505249 0.00001
NM_024334.3(TMEM43):c.246G>A (p.Pro82=) rs376098518 0.00001
NM_024334.3(TMEM43):c.333G>A (p.Pro111=) rs774276092 0.00001
NM_024334.3(TMEM43):c.392+9T>C rs780392028 0.00001
NM_024334.3(TMEM43):c.520G>A (p.Ala174Thr) rs397517385 0.00001
NM_024334.3(TMEM43):c.646G>A (p.Val216Met) rs143735210 0.00001
NM_024334.3(TMEM43):c.705+5G>T rs754716462 0.00001
NM_024334.3(TMEM43):c.763C>T (p.Leu255=) rs761968722 0.00001
NM_024334.3(TMEM43):c.781-13G>T rs202207425 0.00001
NM_024334.3(TMEM43):c.873C>T (p.Phe291=) rs1452047536 0.00001
NM_024334.3(TMEM43):c.883-15C>A rs727504984 0.00001
NM_024334.3(TMEM43):c.961A>G (p.Met321Val) rs397517387 0.00001
NM_024334.3(TMEM43):c.99G>A (p.Ser33=) rs147710692 0.00001
NM_024334.3(TMEM43):c.-11C>T rs767001935
NM_024334.3(TMEM43):c.1019T>G (p.Phe340Cys) rs1559363663
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser) rs187262922
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.1156C>T (p.Pro386Ser) rs1430520295
NM_024334.3(TMEM43):c.1164T>G (p.Leu388=) rs1035334505
NM_024334.3(TMEM43):c.147A>G (p.Leu49=) rs727504629
NM_024334.3(TMEM43):c.163-1G>C rs1060499911
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg) rs199943048
NM_024334.3(TMEM43):c.297+13G>A rs397517381
NM_024334.3(TMEM43):c.337G>A (p.Val113Met) rs572474708
NM_024334.3(TMEM43):c.392+4A>G rs397517382
NM_024334.3(TMEM43):c.399C>T (p.Tyr133=) rs876657589
NM_024334.3(TMEM43):c.442+19dup rs768508021
NM_024334.3(TMEM43):c.45C>G (p.Val15=) rs150334659
NM_024334.3(TMEM43):c.486_489del (p.Asp162fs) rs1060499910
NM_024334.3(TMEM43):c.512+19G>A rs114026215
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024334.3(TMEM43):c.513-20C>T rs1054904116
NM_024334.3(TMEM43):c.51T>G (p.Val17=) rs397517383
NM_024334.3(TMEM43):c.583+3A>G rs876658021
NM_024334.3(TMEM43):c.584-5dup rs1553603140
NM_024334.3(TMEM43):c.630G>A (p.Lys210=) rs1057523392
NM_024334.3(TMEM43):c.64C>T (p.Gln22Ter) rs1695063853
NM_024334.3(TMEM43):c.743T>G (p.Leu248Arg) rs774356401
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln) rs769969149
NM_024334.3(TMEM43):c.850C>G (p.Leu284Val) rs727504764
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr) rs771028028
NM_024334.3(TMEM43):c.882+3G>A rs1057524625
NM_024334.3(TMEM43):c.883-15C>G

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