ClinVar Miner

List of variants in gene TMEM43 reported as benign for arrhythmogenic right ventricular cardiomyopathy

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr) rs2340917 0.35127
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn) rs4685076 0.29043
NM_024334.3(TMEM43):c.883-47C>T rs2731320 0.16071
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_024334.3(TMEM43):c.909C>T (p.Ser303=) rs35100587 0.02012
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.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_024334.3(TMEM43):c.392+16G>A rs150859949 0.00100
NM_024334.3(TMEM43):c.163-6T>A rs372434224 0.00088
NM_024334.3(TMEM43):c.780+16A>G rs146077457 0.00065
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.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr) rs139590716 0.00021
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.579G>A (p.Ser193=) rs369319499 0.00004
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser) rs532872056 0.00002
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024334.3(TMEM43):c.706-3del
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn) rs570799464

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