HELZ2 truncating variants in ExAC

HELZ2 gene summary
HELZ2 variants in

The table below lists the HELZ2 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. 62197509 c.2666_2667delCT p.Pro889ArgfsTer45 frameshift 0.00004816●●●●●●
2. 62199980 c.1461_1462delAC p.Leu488AlafsTer2 frameshift 0.00004140●●●●●●
3. 62191572 c.7609C>T p.R2537X nonsense 0.00003994●●●●●●
4. 62190684 c.7865dupG p.Ser2622ArgfsTer? frameshift 0.00003844●●●●●●
5. 62196007 c.4168C>T p.R1390X nonsense 0.00003789●●●●●●
6. 62195038 c.5137C>T p.Q1713X nonsense 0.00003330●●●●●●
7. 62191644 c.7537delG p.Val2513Ter frameshift 0.00003248●●●●●●
8. 62202109 c.391C>T p.Q131X nonsense 0.00002836●●●●●●
9. 62200567 c.1022_1025delACTA p.Asn341IlefsTer23 frameshift 0.00002731●●●●●●
10. 62200312 c.1129C>T p.Q377X nonsense 0.00002605●●●●●●
11. 62196133 c.4042dupC p.Gln1348ProfsTer8 frameshift 0.00002585●●●●●●
12. 62192628 c.6954-1G>C essential splice site 0.00002494●●●●●●
13. 62196097 c.4078C>T p.R1360X nonsense 0.00001940●●●●●●
14. 62194501 c.5674C>T p.Q1892X nonsense 0.00001923●●●●●●
15. 62199854 c.1587G>A p.W529X nonsense 0.00001905●●●●●●
16. 62193737 c.6303-2dupA essential splice site 0.00001745●●●●●●
17. 62194426 c.5749G>T p.E1917X nonsense 0.00001696●●●●●●
18. 62190661 c.7888C>T p.Q2630X nonsense 0.00001538●●●●●●
19. 62191439 c.7667G>A p.W2556X nonsense 0.00001349●●●●●●
20. 62190689 c.7860G>A p.W2620X nonsense 0.00001215●●●●●●
21. 62196747 c.3428C>G p.S1143X nonsense 0.00001118●●●●●●
22. 62190725 c.7826-2A>G essential splice site 0.00001082●●●●●●
23. 62197285 c.2890C>T p.R964X nonsense 0.00000984●●●●●●
24. 62195383 c.4792delC p.Leu1598SerfsTer372 frameshift 0.00000976●●●●●●
25. 62202088 c.412C>T p.Q138X nonsense 0.00000941●●●●●●
26. 62193066 c.6724dupC p.Leu2242ProfsTer6 frameshift 0.00000928●●●●●●
27. 62198619 c.2092C>T p.Q698X nonsense 0.00000905●●●●●●
28. 62193048 c.6742C>T p.Q2248X nonsense 0.00000868●●●●●●
29. 62196133 c.4042delC p.Gln1348ArgfsTer93 frameshift 0.00000862●●●●●●
30. 62201860 c.567_568delTG p.Glu190GlyfsTer34 frameshift 0.00000860●●●●●●
31. 62201859 c.568G>T p.E190X nonsense 0.00000859●●●●●●
32. 62196175 c.4000C>T p.R1334X nonsense 0.00000852●●●●●●
33. 62198465 c.2246_2247delTT p.Ile749SerfsTer54 frameshift 0.00000841●●●●●●
34. 62192051 c.7282-1G>T essential splice site 0.00000837●●●●●●
35. 62191307 c.7799_7802delGGGC p.Arg2600ProfsTer7 frameshift 0.00000837●●●●●●
36. 62201919 c.508_509delCT p.Leu170AspfsTer20 frameshift 0.00000835●●●●●●

* 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.