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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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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.246G>A (p.Pro82=)	rs376098518	0.00001
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.780+20del
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn)	rs570799464

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