ClinVar Miner

List of variants in gene TMEM43 studied for not provided

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Gene type:
ClinVar version:
Total variants: 224
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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.883-340C>T rs114149034 0.00987
NM_024334.3(TMEM43):c.1000+226_1000+227del rs149041766 0.00924
NM_024334.3(TMEM43):c.513-285T>C rs116264282 0.00876
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_024334.3(TMEM43):c.393-168T>G rs75677144 0.00800
NM_024334.3(TMEM43):c.392+254C>T rs144260204 0.00777
NM_024334.3(TMEM43):c.13-519G>A rs73022888 0.00752
NM_024334.3(TMEM43):c.162+227A>G rs147094114 0.00741
NM_024334.3(TMEM43):c.443-48G>A rs41284009 0.00724
NM_024334.3(TMEM43):c.513-125C>T rs78384995 0.00665
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.584-262A>T rs143665934 0.00503
NM_024334.3(TMEM43):c.781-225T>C rs141251141 0.00496
NM_024334.3(TMEM43):c.12+34G>C rs202159933 0.00426
NM_024334.3(TMEM43):c.162+21C>T rs137975239 0.00388
NM_024334.3(TMEM43):c.392+191G>A rs73817814 0.00378
NM_024334.3(TMEM43):c.393-274A>C rs76785718 0.00372
NM_024334.3(TMEM43):c.583+193A>C rs9822462 0.00310
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.882+25G>A rs190262194 0.00093
NM_024334.3(TMEM43):c.163-6T>A rs372434224 0.00088
NC_000003.12:g.14142645G>A rs145011666 0.00083
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.13-328C>T rs117511391 0.00058
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.*20C>T rs369461997 0.00021
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.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.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578 0.00009
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly) rs754797146 0.00008
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.214G>A (p.Val72Met) rs368603914 0.00006
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu) rs140380494 0.00006
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln) rs193922707 0.00006
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp) rs201138253 0.00006
NM_024334.3(TMEM43):c.981A>G (p.Thr327=) rs764960823 0.00006
NM_024334.3(TMEM43):c.442+12G>C rs530183718 0.00005
NM_024334.3(TMEM43):c.679C>G (p.His227Asp) rs201460674 0.00005
NM_024334.3(TMEM43):c.882+17A>G rs370443570 0.00005
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887 0.00004
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu) rs376514478 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys) rs201094625 0.00004
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.413A>G (p.Gln138Arg) rs397517384 0.00004
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter) rs147336367 0.00004
NM_024334.3(TMEM43):c.624A>G (p.Leu208=) rs527942696 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
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.180G>A (p.Thr60=) rs765703685 0.00003
NM_024334.3(TMEM43):c.189A>G (p.Ser63=) rs934304715 0.00003
NM_024334.3(TMEM43):c.406G>A (p.Asp136Asn) rs559271953 0.00003
NM_024334.3(TMEM43):c.644A>C (p.His215Pro) rs730880225 0.00003
NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys) rs182464375 0.00003
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu) rs533275736 0.00003
NM_024334.3(TMEM43):c.748G>A (p.Gly250Ser) rs371797765 0.00003
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp) rs139842014 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.980C>G (p.Thr327Arg) rs368111230 0.00003
NM_024334.3(TMEM43):c.1000+16G>A rs377252553 0.00002
NM_024334.3(TMEM43):c.1140C>T (p.Ala380=) rs1055842863 0.00002
NM_024334.3(TMEM43):c.1184C>G (p.Pro395Arg) rs1169613716 0.00002
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp) rs201085402 0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 0.00002
NM_024334.3(TMEM43):c.32G>A (p.Arg11Gln) rs568179990 0.00002
NM_024334.3(TMEM43):c.600C>T (p.Val200=) rs760323011 0.00002
NM_024334.3(TMEM43):c.601G>A (p.Asp201Asn) rs138182276 0.00002
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala) rs397517386 0.00002
NM_024334.3(TMEM43):c.705+6C>T rs185025731 0.00002
NM_024334.3(TMEM43):c.98C>T (p.Ser33Leu) rs539753097 0.00002
NM_024334.3(TMEM43):c.1000+6T>C rs773749788 0.00001
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser) rs565997790 0.00001
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met) rs754236206 0.00001
NM_024334.3(TMEM43):c.1115G>A (p.Arg372Gln) rs749140979 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.118C>G (p.Leu40Val) rs755682525 0.00001
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His) rs727505249 0.00001
NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp) rs201453637 0.00001
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly) rs1225730180 0.00001
NM_024334.3(TMEM43):c.218C>A (p.Ser73Tyr) rs200652985 0.00001
NM_024334.3(TMEM43):c.223G>A (p.Asp75Asn) rs138764471 0.00001
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala) rs148171303 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.344T>C (p.Leu115Pro) rs376182664 0.00001
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile) rs754381041 0.00001
NM_024334.3(TMEM43):c.443-12C>G rs368555747 0.00001
NM_024334.3(TMEM43):c.500A>G (p.His167Arg) rs775986881 0.00001
NM_024334.3(TMEM43):c.520G>A (p.Ala174Thr) rs397517385 0.00001
NM_024334.3(TMEM43):c.530C>T (p.Ser177Leu) rs1167948235 0.00001
NM_024334.3(TMEM43):c.560T>C (p.Ile187Thr) rs772317634 0.00001
NM_024334.3(TMEM43):c.583+8T>C rs377518739 0.00001
NM_024334.3(TMEM43):c.62C>T (p.Ser21Phe) rs794729183 0.00001
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys) rs562700595 0.00001
NM_024334.3(TMEM43):c.659G>A (p.Arg220His) rs570836197 0.00001
NM_024334.3(TMEM43):c.65dup (p.Pro23fs) rs1300909566 0.00001
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser) rs374202326 0.00001
NM_024334.3(TMEM43):c.705+5G>T rs754716462 0.00001
NM_024334.3(TMEM43):c.706-3C>T rs1212663056 0.00001
NM_024334.3(TMEM43):c.721G>A (p.Val241Ile) rs747344238 0.00001
NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn) rs375481688 0.00001
NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu) rs769969149 0.00001
NM_024334.3(TMEM43):c.834G>A (p.Lys278=) rs151009158 0.00001
NM_024334.3(TMEM43):c.859C>T (p.His287Tyr) rs780299346 0.00001
NM_024334.3(TMEM43):c.893A>G (p.His298Arg) rs1285837389 0.00001
NM_024334.3(TMEM43):c.90C>T (p.Ser30=) rs373839281 0.00001
NM_024334.3(TMEM43):c.959T>G (p.Phe320Cys) rs886787374 0.00001
NM_024334.3(TMEM43):c.99G>A (p.Ser33=) rs147710692 0.00001
NC_000003.12:g.14124933C>T rs140252037
NM_024334.2(TMEM43):c.83_87delinsAGGA (p.Arg28fs) rs794729182
NM_024334.3(TMEM43):c.-31G>A rs1694999879
NM_024334.3(TMEM43):c.-3A>G rs763829810
NM_024334.3(TMEM43):c.1001-3C>T rs1553603640
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu) rs17856369
NM_024334.3(TMEM43):c.1034A>G (p.Asn345Ser) rs758981622
NM_024334.3(TMEM43):c.1061G>A (p.Cys354Tyr) rs187262922
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser) rs187262922
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.3(TMEM43):c.108G>A (p.Met36Ile) rs1695064905
NM_024334.3(TMEM43):c.1100G>A (p.Gly367Asp) rs794729179
NM_024334.3(TMEM43):c.1123T>C (p.Trp375Arg) rs1695249790
NM_024334.3(TMEM43):c.1124G>A (p.Trp375Ter) rs1695249822
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val) rs193922706
NM_024334.3(TMEM43):c.1159A>G (p.Ile387Val) rs541565919
NM_024334.3(TMEM43):c.1161C>T (p.Ile387=) rs2124997435
NM_024334.3(TMEM43):c.1166T>C (p.Val389Ala)
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.13-81_13-78del 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.287G>C (p.Arg96Pro) rs748343919
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg) rs199943048
NM_024334.3(TMEM43):c.305C>G (p.Ser102Cys)
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly) rs201085402
NM_024334.3(TMEM43):c.337G>A (p.Val113Met) rs572474708
NM_024334.3(TMEM43):c.393-4G>T rs1247757810
NM_024334.3(TMEM43):c.410G>C (p.Gly137Ala) rs760628106
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del) rs746639451
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln) rs145619906
NM_024334.3(TMEM43):c.432G>T (p.Arg144Ser) rs2124988840
NM_024334.3(TMEM43):c.442+43del rs141389147
NM_024334.3(TMEM43):c.443-3C>G
NM_024334.3(TMEM43):c.443A>G (p.Asn148Ser) rs1046932119
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu) rs1369869806
NM_024334.3(TMEM43):c.45C>G (p.Val15=) rs150334659
NM_024334.3(TMEM43):c.509C>G (p.Pro170Arg) rs794729181
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.513-9C>G rs369551282
NM_024334.3(TMEM43):c.568T>A (p.Phe190Ile) rs768718054
NM_024334.3(TMEM43):c.574C>T (p.Leu192Phe)
NM_024334.3(TMEM43):c.59G>C (p.Ser20Thr) rs1261978753
NM_024334.3(TMEM43):c.623T>G (p.Leu208Arg)
NM_024334.3(TMEM43):c.645T>A (p.His215Gln)
NM_024334.3(TMEM43):c.689del (p.Asn230fs)
NM_024334.3(TMEM43):c.69A>C (p.Pro23=) rs767619018
NM_024334.3(TMEM43):c.749dup (p.Asp251fs) rs1695151947
NM_024334.3(TMEM43):c.795C>G (p.Ala265=)
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln) rs769969149
NM_024334.3(TMEM43):c.810C>T (p.Asp270=) rs763026916
NM_024334.3(TMEM43):c.853C>T (p.Leu285Phe) rs186530498
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn) rs570799464
NM_024334.3(TMEM43):c.931_938del (p.Leu311fs) rs1301098386
NM_024334.3(TMEM43):c.938C>T (p.Ala313Val) rs1414806628

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