TNRC18 inframe variants in ExAC

TNRC18 gene summary
TNRC18 variants in

The table below lists the TNRC18 inframe 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. 5352669 c.7853_7854insCTCCTC p.Ser2618_Ser2619dup inframe 0.03095307●●●●●●
2. 5352659 c.7863_7865delCTC p.Ser2631del inframe 0.01962175●●●●●●
3. 5352802 c.7720_7722delAGC p.Ser2577del inframe 0.01907097●●●●●●
4. 5352660 c.7862_7863insATCCTC p.Ser2620_Ser2621dup inframe 0.01702597●●●●●●
5. 5352668 c.7854_7856delCTC p.Ser2619del inframe 0.01554852●●●●●●
6. 5352659 c.7863_7868delCTCCTC p.Ser2629_Ser2630del inframe 0.00378251●●●●●●
7. 5352669 c.7853_7854insCTC p.Ser2619dup inframe 0.00302332●●●●●●
8. 5352530 c.7992_7994delCTC p.Ser2665del inframe 0.00287224●●●●●●
9. 5352660 c.7862_7863insATC p.Ser2620dup inframe 0.00171485●●●●●●
10. 5352659 c.7863_7871delCTCCTCCTC p.Ser2627_Ser2629del inframe 0.00118203●●●●●●
11. 5352660 c.7862_7863insCTC p.Ser2629dup inframe 0.00070922●●●●●●
12. 5352802 c.7720_7731dupAGCAGCAGCAGC p.Ser2574_Ser2577dup inframe 0.00047677●●●●●●
13. 5396888 c.4853_4855delAGA p.Lys1618del inframe 0.00045507●●●●●●
14. 5352803 c.7719_7720insAGC p.Ser2577dup inframe 0.00040866●●●●●●
15. 5427945 c.1510_1512dupACC p.Thr504dup inframe 0.00037624●●●●●●
16. 5352654 c.7868_7869insATC p.Ser2623dup inframe 0.00036919●●●●●●
17. 5352802 c.7720_7731delAGCAGCAGCAGC p.Ser2574_Ser2577del inframe 0.00034055●●●●●●
18. 5352818 c.7704_7705insGGCAGCAGT p.Gly2566_Ser2568dup inframe 0.00027855●●●●●●
19. 5352626 c.7896_7919dupTTCCTCCTCCTCCTCTTCCTCCTC p.Ser2633_Ser2640dup inframe 0.00024606●●●●●●
20. 5352659 c.7863_7886delCTCCTCCTCCTCCTCCTCCTCCTC p.Ser2622_Ser2629del inframe 0.00023641●●●●●●
21. 5352587 c.7935_7940delGTCTTC p.Ser2647_Ser2648del inframe 0.00022104●●●●●●
22. 5352802 c.7720_7728delAGCAGCAGC p.Ser2575_Ser2577del inframe 0.00013622●●●●●●
23. 5352802 c.7720_7725delAGCAGC p.Ser2576_Ser2577del inframe 0.00013622●●●●●●
24. 5354691 c.6951_6953delTGG p.Gly2318del inframe 0.00011803●●●●●●
25. 5352531 c.7991_7992insCTC p.Ser2665dup inframe 0.00011489●●●●●●
26. 5413813 c.3102_3116delGCCGCCCGCCTCCCC p.Pro1035_Pro1039del inframe 0.00008259●●●●●●
27. 5352524 c.7998_8006delCTCCTCTTC p.Ser2667_Ser2669del inframe 0.00007686●●●●●●
28. 5385409 c.5503_5505delGAG p.Glu1835del inframe 0.00006866●●●●●●
29. 5385407 c.5505_5519delGCTCGAGGAGGAGGA p.Glu1835_Glu1839del inframe 0.00006782●●●●●●
30. 5427816 c.1639_1641delTCC p.Ser547del inframe 0.00003603●●●●●●
31. 5396871 c.4870_4872delGAG p.Glu1624del inframe 0.00003207●●●●●●
32. 5430176 c.427_429delCTC p.Leu143del inframe 0.00001748●●●●●●
33. 5410430 c.3795_3806delTGTGGCGGTGCC p.Val1266_Pro1269del inframe 0.00001205●●●●●●
34. 5427484 c.1971_1979delGCCCGAGAG p.Arg657_Glu659del inframe 0.00001151●●●●●●

* 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.