ClinVar Miner

List of variants in gene TMEM43 reported as benign

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Gene type:
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Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.781-113T>C rs2607765 0.70942
NM_024334.3(TMEM43):c.883-128A>G rs2607767 0.66780
NM_024334.3(TMEM43):c.442+51T>C rs4685075 0.48785
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr) rs2340917 0.35127
NM_024334.3(TMEM43):c.393-83G>T rs4685074 0.34317
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn) rs4685076 0.29043
NM_024334.3(TMEM43):c.705+55G>A rs6766740 0.28601
NM_024334.3(TMEM43):c.298-253C>T rs17038942 0.24987
NM_024334.2(TMEM43):c.-300T>C rs2733578 0.21414
NM_024334.3(TMEM43):c.12+167C>T rs2733580 0.21408
NM_024334.3(TMEM43):c.12+130C>T rs2733579 0.21395
NM_024334.3(TMEM43):c.883-47C>T rs2731320 0.16071
NM_024334.3(TMEM43):c.163-247C>T rs6798807 0.14107
NM_024334.3(TMEM43):c.298-106C>T rs3964375 0.09046
NM_024334.3(TMEM43):c.1001-41G>A rs9874135 0.02966
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_024334.3(TMEM43):c.781-278A>G rs78942892 0.02538
NM_024334.3(TMEM43):c.392+121C>G rs56779598 0.02529
NM_024334.3(TMEM43):c.162+147C>T rs11711816 0.02450
NM_024334.3(TMEM43):c.882+336A>C rs75263282 0.02357
NM_024334.3(TMEM43):c.1000+261G>A rs80345392 0.02343
NM_024334.3(TMEM43):c.909C>T (p.Ser303=) rs35100587 0.02012
NM_024334.2(TMEM43):c.-142G>A rs17038940 0.01190
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.13-519G>A rs73022888 0.00752
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.13-517A>G rs151145310 0.00604
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_024334.3(TMEM43):c.*31T>C rs182728261 0.00578
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_024334.2(TMEM43):c.*850G>A rs145011666 0.00083
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.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.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.91G>A (p.Glu31Lys) rs754536393 0.00011
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
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.206C>T (p.Ser69Leu) rs369779779 0.00004
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391 0.00004
NM_024334.3(TMEM43):c.579G>A (p.Ser193=) rs369319499 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024334.3(TMEM43):c.189A>G (p.Ser63=) rs934304715 0.00003
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys) rs140347235 0.00003
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu) rs533275736 0.00003
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 0.00002
NM_024334.3(TMEM43):c.601G>A (p.Asp201Asn) rs138182276 0.00002
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser) rs532872056 0.00002
NM_024334.3(TMEM43):c.1085T>G (p.Leu362Arg) rs756256793 0.00001
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602 0.00001
NM_024334.3(TMEM43):c.246G>A (p.Pro82=) rs376098518 0.00001
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys) rs562700595 0.00001
NM_024334.3(TMEM43):c.834G>A (p.Lys278=) rs151009158 0.00001
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_024334.3(TMEM43):c.-31G>A rs1694999879
NM_024334.3(TMEM43):c.-3A>T rs763829810
NM_024334.3(TMEM43):c.1161C>T (p.Ile387=) rs2124997435
NM_024334.3(TMEM43):c.12+280_12+281dup rs142202629
NM_024334.3(TMEM43):c.13-78del rs10648308
NM_024334.3(TMEM43):c.13-78dup rs10648308
NM_024334.3(TMEM43):c.13-79_13-78del rs10648308
NM_024334.3(TMEM43):c.13-79_13-78dup rs10648308
NM_024334.3(TMEM43):c.163-13C>T rs2124986809
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024334.3(TMEM43):c.265G>A (p.Val89Met) rs147319971
NM_024334.3(TMEM43):c.442+43del rs141389147
NM_024334.3(TMEM43):c.45C>G (p.Val15=) rs150334659
NM_024334.3(TMEM43):c.488G>A (p.Arg163Gln) rs759676847
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024334.3(TMEM43):c.512+9C>G rs2124989236
NM_024334.3(TMEM43):c.513-90G>A rs2733585
NM_024334.3(TMEM43):c.706-3del
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn) rs570799464

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