SCO2 truncating variants in ExAC

SCO2 gene summary
SCO2 variants in

The table below lists the SCO2 truncating variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 50962684 c.157C>T p.Q53X nonsense 0.00006131●●●●●●
2. 50962573 c.268C>T p.R90X nonsense 0.00002562●●●●●●
3. 50962440 c.401_402delCT frameshift 0.00001658●●●●●●
4. 50962720 c.121C>T p.Q41X nonsense 0.00000878●●●●●●
5. 50962576 c.265A>T p.K89X nonsense 0.00000854●●●●●●
6. 50962568 c.273_279delAGAAGCC p.Glu92CysfsTer32 frameshift 0.00000849●●●●●●
7. 50962483 c.358delC p.Arg120GlyfsTer6 frameshift 0.00000833●●●●●●
8. 50962387 c.454delG p.Glu152LysfsTer40 frameshift 0.00000828●●●●●●
9. 50962086 c.755_758delACAG p.Asp252ValfsTer24 frameshift 0.00000827●●●●●●
10. 50962118 c.723C>G p.Y241X nonsense 0.00000825●●●●●●
11. 50962297 c.544C>T p.Q182X nonsense 0.00000825●●●●●●
12. 50962225 c.616delC p.Arg206AlafsTer71 frameshift 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.