ClinVar Miner

List of variants in gene TMEM43 reported as likely benign by Invitae

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Gene type:
ClinVar version:
Total variants: 240
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00069
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.484G>A (p.Asp162Asn) rs150425166 0.00035
NM_024334.3(TMEM43):c.442+7G>A rs373590238 0.00031
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.443-9C>T rs371866082 0.00017
NM_024334.3(TMEM43):c.864C>T (p.His288=) rs377585035 0.00014
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.1089C>T (p.Thr363=) rs145094507 0.00008
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly) rs754797146 0.00008
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_024334.3(TMEM43):c.1185A>G (p.Pro395=) rs747754860 0.00006
NM_024334.3(TMEM43):c.442+20C>T rs202103307 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.882+17A>G rs370443570 0.00005
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391 0.00004
NM_024334.3(TMEM43):c.624A>G (p.Leu208=) rs527942696 0.00004
NM_024334.3(TMEM43):c.705+11A>T rs960038220 0.00004
NM_024334.3(TMEM43):c.750C>T (p.Gly250=) rs374222050 0.00004
NM_024334.3(TMEM43):c.1000+12G>A rs749592639 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.512+12G>A rs766205020 0.00003
NM_024334.3(TMEM43):c.584-13C>G rs748146417 0.00003
NM_024334.3(TMEM43):c.591C>T (p.Ile197=) rs145024252 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.96C>T (p.Thr32=) rs1021721320 0.00003
NM_024334.3(TMEM43):c.1000+16G>A rs377252553 0.00002
NM_024334.3(TMEM43):c.1001-7T>C rs781382808 0.00002
NM_024334.3(TMEM43):c.1140C>T (p.Ala380=) rs1055842863 0.00002
NM_024334.3(TMEM43):c.216G>A (p.Val72=) rs943527392 0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 0.00002
NM_024334.3(TMEM43):c.468C>T (p.Ile156=) rs769654404 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.747C>T (p.Ser249=) rs549809535 0.00002
NM_024334.3(TMEM43):c.781-4C>T rs1445555724 0.00002
NM_024334.3(TMEM43):c.1001-11C>T rs755132712 0.00001
NM_024334.3(TMEM43):c.1074G>A (p.Ser358=) rs377104916 0.00001
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224 0.00001
NM_024334.3(TMEM43):c.1158C>T (p.Pro386=) rs1377312502 0.00001
NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp) rs201453637 0.00001
NM_024334.3(TMEM43):c.168C>T (p.Arg56=) rs768752495 0.00001
NM_024334.3(TMEM43):c.186C>G (p.Thr62=) rs773764939 0.00001
NM_024334.3(TMEM43):c.207G>A (p.Ser69=) rs886058030 0.00001
NM_024334.3(TMEM43):c.213G>A (p.Val71=) rs756764750 0.00001
NM_024334.3(TMEM43):c.246G>A (p.Pro82=) rs376098518 0.00001
NM_024334.3(TMEM43):c.324C>T (p.Val108=) rs371279985 0.00001
NM_024334.3(TMEM43):c.354C>T (p.His118=) rs754103544 0.00001
NM_024334.3(TMEM43):c.381T>C (p.Thr127=) rs778409275 0.00001
NM_024334.3(TMEM43):c.392+8G>C rs187725428 0.00001
NM_024334.3(TMEM43):c.392+9T>C rs780392028 0.00001
NM_024334.3(TMEM43):c.42T>C (p.His14=) rs773252383 0.00001
NM_024334.3(TMEM43):c.443-10C>T rs1695115549 0.00001
NM_024334.3(TMEM43):c.443-12C>G rs368555747 0.00001
NM_024334.3(TMEM43):c.483C>T (p.Phe161=) rs772842801 0.00001
NM_024334.3(TMEM43):c.512+8C>A rs757632483 0.00001
NM_024334.3(TMEM43):c.583+8T>C rs377518739 0.00001
NM_024334.3(TMEM43):c.584-16A>G rs562436722 0.00001
NM_024334.3(TMEM43):c.763C>T (p.Leu255=) rs761968722 0.00001
NM_024334.3(TMEM43):c.768C>A (p.Gly256=) rs955293392 0.00001
NM_024334.3(TMEM43):c.781-13G>T rs202207425 0.00001
NM_024334.3(TMEM43):c.78G>A (p.Leu26=) rs1695064079 0.00001
NM_024334.3(TMEM43):c.801G>A (p.Gln267=) rs1258459178 0.00001
NM_024334.3(TMEM43):c.831C>T (p.Thr277=) rs758007704 0.00001
NM_024334.3(TMEM43):c.834G>A (p.Lys278=) rs151009158 0.00001
NM_024334.3(TMEM43):c.840G>C (p.Gly280=) rs755018311 0.00001
NM_024334.3(TMEM43):c.852G>A (p.Leu284=) rs139211731 0.00001
NM_024334.3(TMEM43):c.855C>G (p.Leu285=) rs1337055313 0.00001
NM_024334.3(TMEM43):c.873C>T (p.Phe291=) rs1452047536 0.00001
NM_024334.3(TMEM43):c.882+8C>T rs920512368 0.00001
NM_024334.3(TMEM43):c.90C>T (p.Ser30=) rs373839281 0.00001
NM_024334.3(TMEM43):c.993C>T (p.Tyr331=) rs755042745 0.00001
NM_024334.3(TMEM43):c.99G>A (p.Ser33=) rs147710692 0.00001
NM_024334.3(TMEM43):c.1000+13G>C
NM_024334.3(TMEM43):c.1001-4A>G rs960212953
NM_024334.3(TMEM43):c.1001-6C>T rs2124997132
NM_024334.3(TMEM43):c.102T>A (p.Gly34=)
NM_024334.3(TMEM43):c.1041C>T (p.Gly347=) rs1574942089
NM_024334.3(TMEM43):c.1050C>G (p.Ala350=)
NM_024334.3(TMEM43):c.1050C>T (p.Ala350=) rs1574942095
NM_024334.3(TMEM43):c.105G>A (p.Gly35=)
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser) rs187262922
NM_024334.3(TMEM43):c.1068C>G (p.Ala356=)
NM_024334.3(TMEM43):c.1068C>T (p.Ala356=)
NM_024334.3(TMEM43):c.1075C>T (p.Leu359=) rs767824014
NM_024334.3(TMEM43):c.1080C>T (p.Thr360=) rs370839609
NM_024334.3(TMEM43):c.1086G>A (p.Leu362=)
NM_024334.3(TMEM43):c.1119C>A (p.Pro373=)
NM_024334.3(TMEM43):c.1149C>A (p.Ala383=)
NM_024334.3(TMEM43):c.1164T>C (p.Leu388=) rs1035334505
NM_024334.3(TMEM43):c.1167T>C (p.Val389=) rs1695251041
NM_024334.3(TMEM43):c.1188C>T (p.Ala396=) rs2124997491
NM_024334.3(TMEM43):c.12+16C>T
NM_024334.3(TMEM43):c.1202del (p.Glu400_Ter401insTer)
NM_024334.3(TMEM43):c.13-4T>C rs766665492
NM_024334.3(TMEM43):c.135C>G (p.Leu45=)
NM_024334.3(TMEM43):c.162+17C>T rs1229821290
NM_024334.3(TMEM43):c.162+20C>T
NM_024334.3(TMEM43):c.163-20C>T
NM_024334.3(TMEM43):c.165C>T (p.Gly55=)
NM_024334.3(TMEM43):c.171A>G (p.Ala57=)
NM_024334.3(TMEM43):c.177G>A (p.Lys59=) rs1553602938
NM_024334.3(TMEM43):c.186C>T (p.Thr62=)
NM_024334.3(TMEM43):c.201G>A (p.Gly67=)
NM_024334.3(TMEM43):c.204C>G (p.Leu68=)
NM_024334.3(TMEM43):c.204C>T (p.Leu68=) rs752403292
NM_024334.3(TMEM43):c.207G>C (p.Ser69=) rs886058030
NM_024334.3(TMEM43):c.213G>T (p.Val71=) rs756764750
NM_024334.3(TMEM43):c.21T>C (p.Ser7=)
NM_024334.3(TMEM43):c.231C>T (p.Ile77=) rs899266809
NM_024334.3(TMEM43):c.265G>A (p.Val89Met) rs147319971
NM_024334.3(TMEM43):c.267G>A (p.Val89=) rs763697982
NM_024334.3(TMEM43):c.273C>T (p.Ile91=) rs764733979
NM_024334.3(TMEM43):c.286C>A (p.Arg96=) rs754797146
NM_024334.3(TMEM43):c.288G>A (p.Arg96=) rs2124987180
NM_024334.3(TMEM43):c.291A>T (p.Thr97=) rs2124987190
NM_024334.3(TMEM43):c.297+14G>T rs1695088030
NM_024334.3(TMEM43):c.297+16G>T
NM_024334.3(TMEM43):c.297+17A>C
NM_024334.3(TMEM43):c.298-15T>C
NM_024334.3(TMEM43):c.301T>C (p.Leu101=)
NM_024334.3(TMEM43):c.30C>T (p.Thr10=) rs757554576
NM_024334.3(TMEM43):c.346C>A (p.Arg116=) rs752588115
NM_024334.3(TMEM43):c.351G>A (p.Arg117=) rs2124987872
NM_024334.3(TMEM43):c.366C>T (p.Tyr122=) rs2124987907
NM_024334.3(TMEM43):c.390C>A (p.Ser130=)
NM_024334.3(TMEM43):c.392+16_392+32del rs745331190
NM_024334.3(TMEM43):c.392+6C>T rs1574937711
NM_024334.3(TMEM43):c.393-16T>A
NM_024334.3(TMEM43):c.393-18G>A
NM_024334.3(TMEM43):c.393-19T>C
NM_024334.3(TMEM43):c.393-4G>T rs1247757810
NM_024334.3(TMEM43):c.393-6C>T rs2124988705
NM_024334.3(TMEM43):c.396G>A (p.Glu132=)
NM_024334.3(TMEM43):c.39A>G (p.Glu13=) rs1444701312
NM_024334.3(TMEM43):c.414G>A (p.Gln138=)
NM_024334.3(TMEM43):c.426G>A (p.Glu142=) rs2124988827
NM_024334.3(TMEM43):c.442+10G>A rs2124988861
NM_024334.3(TMEM43):c.442+13C>T rs781640632
NM_024334.3(TMEM43):c.442+14C>T
NM_024334.3(TMEM43):c.442+19dup rs768508021
NM_024334.3(TMEM43):c.443-18A>T
NM_024334.3(TMEM43):c.443-4G>A
NM_024334.3(TMEM43):c.443-5A>G
NM_024334.3(TMEM43):c.45C>G (p.Val15=) rs150334659
NM_024334.3(TMEM43):c.48A>G (p.Lys16=)
NM_024334.3(TMEM43):c.492G>A (p.Glu164=) rs949064136
NM_024334.3(TMEM43):c.495T>C (p.Ile165=)
NM_024334.3(TMEM43):c.512+15C>T
NM_024334.3(TMEM43):c.512+19G>A rs114026215
NM_024334.3(TMEM43):c.512+7G>A rs2124989229
NM_024334.3(TMEM43):c.512+9C>G rs2124989236
NM_024334.3(TMEM43):c.513-11C>T rs1695130290
NM_024334.3(TMEM43):c.513-14C>T
NM_024334.3(TMEM43):c.513-16T>G
NM_024334.3(TMEM43):c.513-17C>A rs1230270948
NM_024334.3(TMEM43):c.513-17C>T
NM_024334.3(TMEM43):c.513-18G>A
NM_024334.3(TMEM43):c.513-20C>T rs1054904116
NM_024334.3(TMEM43):c.513-7C>T
NM_024334.3(TMEM43):c.513-8T>C rs2124989875
NM_024334.3(TMEM43):c.513-9C>G rs369551282
NM_024334.3(TMEM43):c.51T>G (p.Val17=) rs397517383
NM_024334.3(TMEM43):c.536_537inv (p.Met179Thr)
NM_024334.3(TMEM43):c.549C>G (p.Pro183=)
NM_024334.3(TMEM43):c.552T>C (p.Phe184=)
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.57C>G (p.Thr19=)
NM_024334.3(TMEM43):c.583+10A>T rs760105643
NM_024334.3(TMEM43):c.583+13C>T
NM_024334.3(TMEM43):c.583+16C>T
NM_024334.3(TMEM43):c.583+7C>T
NM_024334.3(TMEM43):c.583+9C>G
NM_024334.3(TMEM43):c.584-15C>T rs1298507684
NM_024334.3(TMEM43):c.584-18C>T
NM_024334.3(TMEM43):c.584-5C>T rs932265324
NM_024334.3(TMEM43):c.584-7C>G rs773841507
NM_024334.3(TMEM43):c.584-7C>T
NM_024334.3(TMEM43):c.588C>T (p.Leu196=)
NM_024334.3(TMEM43):c.60C>T (p.Ser20=)
NM_024334.3(TMEM43):c.615C>G (p.Ser205=) rs761287242
NM_024334.3(TMEM43):c.622C>T (p.Leu208=) rs1246435835
NM_024334.3(TMEM43):c.645T>C (p.His215=) rs370782259
NM_024334.3(TMEM43):c.69A>C (p.Pro23=) rs767619018
NM_024334.3(TMEM43):c.705+12G>A rs2124991000
NM_024334.3(TMEM43):c.705+14C>G rs983517574
NM_024334.3(TMEM43):c.705+7G>C rs201916031
NM_024334.3(TMEM43):c.706-13C>T
NM_024334.3(TMEM43):c.706-15C>G
NM_024334.3(TMEM43):c.706-20T>C rs1001419903
NM_024334.3(TMEM43):c.706-4C>G rs760936714
NM_024334.3(TMEM43):c.706-6C>T rs1404287765
NM_024334.3(TMEM43):c.714C>T (p.Asp238=)
NM_024334.3(TMEM43):c.723C>T (p.Val241=)
NM_024334.3(TMEM43):c.744G>A (p.Leu248=) rs533455369
NM_024334.3(TMEM43):c.753T>C (p.Asp251=) rs2124991349
NM_024334.3(TMEM43):c.756C>T (p.Asp252=)
NM_024334.3(TMEM43):c.759T>C (p.Pro253=)
NM_024334.3(TMEM43):c.780+13C>T
NM_024334.3(TMEM43):c.780+19G>A rs2124991426
NM_024334.3(TMEM43):c.780+7T>G
NM_024334.3(TMEM43):c.781-10C>G rs1695161102
NM_024334.3(TMEM43):c.781-16C>T
NM_024334.3(TMEM43):c.781-17C>A
NM_024334.3(TMEM43):c.781-17C>G
NM_024334.3(TMEM43):c.781-19C>T
NM_024334.3(TMEM43):c.781-4C>G rs1445555724
NM_024334.3(TMEM43):c.792T>C (p.Ile264=) rs1408153534
NM_024334.3(TMEM43):c.795C>T (p.Ala265=)
NM_024334.3(TMEM43):c.804G>A (p.Arg268=)
NM_024334.3(TMEM43):c.810C>T (p.Asp270=) rs763026916
NM_024334.3(TMEM43):c.813G>A (p.Gln271=)
NM_024334.3(TMEM43):c.814C>T (p.Leu272=) rs759993739
NM_024334.3(TMEM43):c.837T>G (p.Ser279=) rs751086845
NM_024334.3(TMEM43):c.846C>A (p.Thr282=) rs1384290838
NM_024334.3(TMEM43):c.846C>T (p.Thr282=) rs1384290838
NM_024334.3(TMEM43):c.850C>T (p.Leu284=)
NM_024334.3(TMEM43):c.855C>T (p.Leu285=)
NM_024334.3(TMEM43):c.867G>A (p.Gly289=)
NM_024334.3(TMEM43):c.882+12G>A
NM_024334.3(TMEM43):c.882+17A>C
NM_024334.3(TMEM43):c.882+18C>T rs1695163911
NM_024334.3(TMEM43):c.882+20C>T rs1695163974
NM_024334.3(TMEM43):c.883-13C>A
NM_024334.3(TMEM43):c.883-15C>G
NM_024334.3(TMEM43):c.883-16C>T rs2124995118
NM_024334.3(TMEM43):c.883-6C>T
NM_024334.3(TMEM43):c.894T>C (p.His298=)
NM_024334.3(TMEM43):c.924C>G (p.Thr308=)
NM_024334.3(TMEM43):c.924C>T (p.Thr308=)
NM_024334.3(TMEM43):c.990C>G (p.Leu330=)
NM_024334.3(TMEM43):c.990C>T (p.Leu330=) rs780129544
NM_024334.3(TMEM43):c.99G>C (p.Ser33=) rs147710692

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