ClinVar Miner

List of variants in gene TMEM43 reported as likely benign for Cardiomyopathy

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Gene type:
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Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_024334.3(TMEM43):c.*8C>T rs192707412 0.00225
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.279C>T (p.Gly93=) rs149883381 0.00044
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.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.280G>A (p.Ala94Thr) rs369142200 0.00014
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.91G>A (p.Glu31Lys) rs754536393 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.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.802C>T (p.Arg268Trp) rs201138253 0.00006
NM_024334.3(TMEM43):c.981A>G (p.Thr327=) rs764960823 0.00006
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.624A>G (p.Leu208=) rs527942696 0.00004
NM_024334.3(TMEM43):c.750C>T (p.Gly250=) rs374222050 0.00004
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.403G>A (p.Glu135Lys) rs140347235 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.748G>A (p.Gly250Ser) rs371797765 0.00003
NM_024334.3(TMEM43):c.1140C>T (p.Ala380=) rs1055842863 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.600C>T (p.Val200=) rs760323011 0.00002
NM_024334.3(TMEM43):c.601G>A (p.Asp201Asn) rs138182276 0.00002
NM_024334.3(TMEM43):c.705+6C>T rs185025731 0.00002
NM_024334.3(TMEM43):c.747C>T (p.Ser249=) rs549809535 0.00002
NM_024334.3(TMEM43):c.888G>A (p.Val296=) rs763995800 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.1085T>G (p.Leu362Arg) rs756256793 0.00001
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224 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.252T>C (p.Asn84=) rs1197228653 0.00001
NM_024334.3(TMEM43):c.324C>T (p.Val108=) rs371279985 0.00001
NM_024334.3(TMEM43):c.333G>A (p.Pro111=) rs774276092 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.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.706-3C>T rs1212663056 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.781-3C>T rs780142044 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.855C>G (p.Leu285=) rs1337055313 0.00001
NM_024334.3(TMEM43):c.893A>G (p.His298Arg) rs1285837389 0.00001
NM_024334.3(TMEM43):c.900A>G (p.Glu300=) rs758427713 0.00001
NM_024334.3(TMEM43):c.961A>G (p.Met321Val) rs397517387 0.00001
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln) rs185611706 0.00001
NM_024334.3(TMEM43):c.993C>T (p.Tyr331=) rs755042745 0.00001
NM_024334.3(TMEM43):c.-3A>T rs763829810
NM_024334.3(TMEM43):c.1001-3C>T rs1553603640
NM_024334.3(TMEM43):c.1038T>C (p.Ile346=) rs1695247267
NM_024334.3(TMEM43):c.1056C>T (p.Ala352=) rs772960578
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser) rs187262922
NM_024334.3(TMEM43):c.1077G>C (p.Leu359=)
NM_024334.3(TMEM43):c.1080C>T (p.Thr360=) rs370839609
NM_024334.3(TMEM43):c.1164T>G (p.Leu388=) rs1035334505
NM_024334.3(TMEM43):c.117G>C (p.Gly39=) rs1231946683
NM_024334.3(TMEM43):c.13-3C>T
NM_024334.3(TMEM43):c.180G>C (p.Thr60=) rs765703685
NM_024334.3(TMEM43):c.195T>C (p.Ala65=) rs2124986930
NM_024334.3(TMEM43):c.204C>T (p.Leu68=) rs752403292
NM_024334.3(TMEM43):c.237T>C (p.Ser79=) rs1559360551
NM_024334.3(TMEM43):c.25A>G (p.Ser9Gly) rs1054032061
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.27T>C (p.Ser9=) rs1695062781
NM_024334.3(TMEM43):c.298-13A>G rs1695095913
NM_024334.3(TMEM43):c.30C>T (p.Thr10=) rs757554576
NM_024334.3(TMEM43):c.330T>C (p.Leu110=) rs2124987823
NM_024334.3(TMEM43):c.337G>A (p.Val113Met) rs572474708
NM_024334.3(TMEM43):c.35G>A (p.Arg12Lys) rs1559359985
NM_024334.3(TMEM43):c.366C>T (p.Tyr122=) rs2124987907
NM_024334.3(TMEM43):c.393-4G>T rs1247757810
NM_024334.3(TMEM43):c.393G>A (p.Arg131=) rs1695110759
NM_024334.3(TMEM43):c.399C>T (p.Tyr133=) rs876657589
NM_024334.3(TMEM43):c.432G>A (p.Arg144=)
NM_024334.3(TMEM43):c.45C>G (p.Val15=) rs150334659
NM_024334.3(TMEM43):c.47A>G (p.Lys16Arg) rs770619613
NM_024334.3(TMEM43):c.488G>A (p.Arg163Gln) rs759676847
NM_024334.3(TMEM43):c.512+3G>A rs754209349
NM_024334.3(TMEM43):c.513-11C>T rs1695130290
NM_024334.3(TMEM43):c.531A>T (p.Ser177=) rs1695130809
NM_024334.3(TMEM43):c.584-14T>G rs1695143733
NM_024334.3(TMEM43):c.584-5C>T rs932265324
NM_024334.3(TMEM43):c.624A>T (p.Leu208=) rs527942696
NM_024334.3(TMEM43):c.630G>A (p.Lys210=) rs1057523392
NM_024334.3(TMEM43):c.636G>A (p.Glu212=) rs1695145292
NM_024334.3(TMEM43):c.639C>T (p.Asp213=)
NM_024334.3(TMEM43):c.645T>C (p.His215=) rs370782259
NM_024334.3(TMEM43):c.6C>A (p.Ala2=) rs1262797668
NM_024334.3(TMEM43):c.706-4C>T rs760936714
NM_024334.3(TMEM43):c.750C>G (p.Gly250=)
NM_024334.3(TMEM43):c.753T>C (p.Asp251=) rs2124991349
NM_024334.3(TMEM43):c.814C>T (p.Leu272=) rs759993739
NM_024334.3(TMEM43):c.846C>T (p.Thr282=) rs1384290838
NM_024334.3(TMEM43):c.849A>G (p.Leu283=) rs1695162928
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn) rs570799464
NM_024334.3(TMEM43):c.931C>T (p.Leu311=)
NM_024334.3(TMEM43):c.982C>A (p.Arg328=) rs561883271
NM_024334.3(TMEM43):c.984G>A (p.Arg328=) rs2124995381
NM_024334.3(TMEM43):c.99G>C (p.Ser33=) rs147710692

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