ClinVar Miner

List of variants in gene TMEM43 studied for Arrhythmogenic right ventricular cardiomyopathy

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Total variants: 22
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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.*1054_*1058del rs550702296 0.00553
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_024334.3(TMEM43):c.*806A>C rs58476065 0.00408
NM_024334.3(TMEM43):c.*8C>T rs192707412 0.00225
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln) rs193922707 0.00006
NM_024334.3(TMEM43):c.*849T>C rs886058034 0.00003
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr) rs555913548 0.00001
NM_024334.3(TMEM43):c.*1080G>T rs886058035
NM_024334.3(TMEM43):c.*1161C>A rs886058036
NM_024334.3(TMEM43):c.*1352_*1357del rs71699966
NM_024334.3(TMEM43):c.*1535T>C rs886058038
NM_024334.3(TMEM43):c.*1584G>T rs886058039
NM_024334.3(TMEM43):c.*1642T>G rs886058040
NM_024334.3(TMEM43):c.*1677dup rs886058041
NM_024334.3(TMEM43):c.*1700G>T rs886058042
NM_024334.3(TMEM43):c.*270T>C rs886058032
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.3(TMEM43):c.346C>A (p.Arg116=) rs752588115
NM_024334.3(TMEM43):c.584-4T>A rs2124990773
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn) rs570799464

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