ClinVar Miner

List of variants in gene TMEM43 studied for Cardiomyopathy

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Total variants: 51
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HGVS dbSNP
NM_024334.2(TMEM43):c.*8C>T rs192707412
NM_024334.2(TMEM43):c.-3A>T rs763829810
NM_024334.2(TMEM43):c.1019T>C (p.Phe340Ser) rs1559363663
NM_024334.2(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887
NM_024334.2(TMEM43):c.1026C>A (p.Asp342Glu) rs376514478
NM_024334.2(TMEM43):c.1059C>G (p.Phe353Leu) rs730880227
NM_024334.2(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134
NM_024334.2(TMEM43):c.1111T>C (p.Tyr371His) rs116911972
NM_024334.2(TMEM43):c.1159A>G (p.Ile387Val) rs541565919
NM_024334.2(TMEM43):c.1164T>G (p.Leu388=) rs1035334505
NM_024334.2(TMEM43):c.121A>G (p.Met41Val) rs144334386
NM_024334.2(TMEM43):c.163-14C>T rs113745859
NM_024334.2(TMEM43):c.163-3del rs371706980
NM_024334.2(TMEM43):c.164G>A (p.Gly55Asp) rs201453637
NM_024334.2(TMEM43):c.186C>G (p.Thr62=) rs773764939
NM_024334.2(TMEM43):c.214G>A (p.Val72Met) rs368603914
NM_024334.2(TMEM43):c.222C>T (p.Pro74=) rs34099410
NM_024334.2(TMEM43):c.237T>C (p.Ser79=) rs1559360551
NM_024334.2(TMEM43):c.271A>G (p.Ile91Val) rs144811578
NM_024334.2(TMEM43):c.31C>T (p.Arg11Trp) rs201085402
NM_024334.2(TMEM43):c.32G>A (p.Arg11Gln) rs568179990
NM_024334.2(TMEM43):c.35G>A (p.Arg12Lys) rs1559359985
NM_024334.2(TMEM43):c.381T>C (p.Thr127=) rs778409275
NM_024334.2(TMEM43):c.392+1G>T rs1559360791
NM_024334.2(TMEM43):c.402C>T (p.Thr134=) rs370422391
NM_024334.2(TMEM43):c.418_420AAG[1] (p.Lys141del) rs746639451
NM_024334.2(TMEM43):c.429G>A (p.Thr143=) rs201217046
NM_024334.2(TMEM43):c.47A>T (p.Lys16Ile) rs770619613
NM_024334.2(TMEM43):c.504A>T (p.Lys168Asn) rs4685076
NM_024334.2(TMEM43):c.536T>C (p.Met179Thr) rs2340917
NM_024334.2(TMEM43):c.548C>T (p.Pro183Leu) rs746116143
NM_024334.2(TMEM43):c.579G>A (p.Ser193=) rs369319499
NM_024334.2(TMEM43):c.601G>A (p.Asp201Asn) rs138182276
NM_024334.2(TMEM43):c.682A>T (p.Ser228Cys) rs776147178
NM_024334.2(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492
NM_024334.2(TMEM43):c.718C>T (p.Arg240Cys) rs367910936
NM_024334.2(TMEM43):c.750C>T (p.Gly250=) rs374222050
NM_024334.2(TMEM43):c.778G>A (p.Val260Met) rs758872772
NM_024334.2(TMEM43):c.796C>T (p.Arg266Trp) rs139842014
NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.2(TMEM43):c.839G>A (p.Gly280Glu) rs1559362201
NM_024334.2(TMEM43):c.865G>A (p.Gly289Arg) rs730880226
NM_024334.2(TMEM43):c.892C>G (p.His298Asp) rs1559363073
NM_024334.2(TMEM43):c.893A>G (p.His298Arg) rs1285837389
NM_024334.2(TMEM43):c.896G>C (p.Arg299Thr) rs139590716
NM_024334.2(TMEM43):c.909C>T (p.Ser303=) rs35100587
NM_024334.2(TMEM43):c.921G>A (p.Lys307=) rs201771608
NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024334.2(TMEM43):c.947G>C (p.Trp316Ser) rs199526104
NM_024334.2(TMEM43):c.953C>T (p.Ala318Val) rs11924644
NM_024334.2(TMEM43):c.964G>A (p.Gly322Ser) rs1231932407

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