ClinVar Miner

List of variants reported as uncertain significance for dilated cardiomyopathy 2A by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.537G>A (p.Glu179=) rs3729841 0.04860
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_000363.5(TNNI3):c.-47C>T rs202159627 0.00625
NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=) rs111250144 0.00398
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697 0.00198
NM_000363.5(TNNI3):c.373-15C>G rs192630178 0.00141
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_000363.5(TNNI3):c.373-4C>G rs2288530 0.00007
NM_000363.5(TNNI3):c.139T>C (p.Leu47=) rs587780967 0.00006
NM_000363.5(TNNI3):c.*35C>T rs375447438 0.00004
NM_000363.5(TNNI3):c.*44A>G rs1182120462 0.00004
NM_000363.5(TNNI3):c.372+7C>T rs367809676 0.00004
NM_000363.5(TNNI3):c.151-6C>G rs377258542 0.00002
NM_000363.5(TNNI3):c.283-9C>T rs759922995 0.00002
NM_000363.5(TNNI3):c.-45C>T rs1242688089 0.00001
NM_000363.5(TNNI3):c.550-11C>T rs886054635 0.00001
NM_001256715.2(DNAAF3):c.484C>A (p.Arg162Ser) rs760391305 0.00001
NM_000363.5(TNNI3):c.-98C>A rs12973773
NM_000363.5(TNNI3):c.104C>A (p.Ala35Asp) rs1190447904
NM_000363.5(TNNI3):c.109-15A>G rs779144176
NM_000363.5(TNNI3):c.466C>G (p.Gln156Glu) rs2085712011
NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=) rs371092262

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.