TMPO truncating variants in ExAC

TMPO gene summary
TMPO variants in

The table below lists the TMPO 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. 98927788 c.1753_1754insA p.His585GlnfsTer7 frameshift 0.00008303●●●●●●
2. 98928120 c.2085G>A nonsense 0.00003375●●●●●●
3. 98927852 c.1817C>G p.S606X nonsense 0.00003309●●●●●●
4. 98927083 c.1048C>T p.Q350X nonsense 0.00002481●●●●●●
5. 98927710 c.1675_1676insAGTC p.Cys561ValfsTer12 frameshift 0.00001650●●●●●●
6. 98927229 c.1194_1195delCT p.Ser399TyrfsTer14 frameshift 0.00001649●●●●●●
7. 98927825 c.1790delT p.Ser598ValfsTer21 frameshift 0.00000829●●●●●●
8. 98927916 c.1881T>A p.Y627X nonsense 0.00000826●●●●●●
9. 98926606 c.571_574delAAGA p.Lys192AsnfsTer5 frameshift 0.00000826●●●●●●
10. 98927124 c.1089_1090delTG p.S365Lfs*27 frameshift 0.00000825●●●●●●
11. 98927695 c.1660C>T p.Q554X nonsense 0.00000825●●●●●●
12. 98927118 c.1083_1084delAG p.Glu362ValfsTer2 frameshift 0.00000825●●●●●●
13. 98927149 c.1114_1121delCCACTTGC p.Leu373GlyfsTer17 frameshift 0.00000824●●●●●●
14. 98927406 c.1371_1372insT p.Ser458PhefsTer21 frameshift 0.00000824●●●●●●
15. 98927172 c.1137_1138insTA p.Val381MetfsTer11 frameshift 0.00000824●●●●●●
16. 98926795 c.760G>T p.Glu254Ter nonsense 0.00000824●●●●●●
17. 98927499 c.1464_1465delAG p.Glu489ThrfsTer7 frameshift 0.00000824●●●●●●
18. 98927218 c.1183delG p.Gly395GlufsTer11 frameshift 0.00000824●●●●●●
19. 98927194 c.1159C>T p.Q387X nonsense 0.00000824●●●●●●
20. 98927398 c.1363G>T p.E455X nonsense 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.