NEXN variants in DCM cohorts

The table below lists the 5 rare (MAF<0.0001 in ExAC) protein-altering NEXN variants identified in a cohort of 156 DCM patients. When this rare variant frequency of 0.03205 is compared with a background population rate of 0.00756, there is a case excess of 0.02449, although this is not statistically significant for protein-altering NEXN variants in DCM (p=0.0071).

Variant Type:      All protein-altering variants     -     Truncating variants     -     Non-Truncating variants
Source:      LMM

No. Variant (CDS) Variant (Protein) Variant Type Cases (156)LMM class ExAC frequency
1. c.1756_1758delAAG p.Lys586delinframe 1VUS (1)0.000000
2. c.1053+1G>A essential splice site 1VUS favour pathogenic (1)0.000016
3. c.1996A>G p.T666Amissense 1VUS (1)0.000016
4. c.1407_1409delAGA inframe 1VUS favour pathogenic (1)0.000000
5. c.1677_1682delGGAGGA p.Glu561_Glu562delinframe 1VUS (1)0.000000


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