HADHB truncating variants in ExAC

HADHB gene summary
HADHB variants in

The table below lists the HADHB 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. 26496518 c.255-1G>A essential splice site 0.00007461●●●●●●
2. 26502057 c.685C>T p.R229X nonsense 0.00002472●●●●●●
3. 26502860 c.812-2A>G essential splice site 0.00001664●●●●●●
4. 26505787 c.1008T>G p.Y336X nonsense 0.00001649●●●●●●
5. 26501646 c.607C>T p.R203X nonsense 0.00001648●●●●●●
6. 26508441 c.1389+2T>C essential splice site 0.00000855●●●●●●
7. 26496613 c.349A>T p.R117X nonsense 0.00000837●●●●●●
8. 26477324 c.91C>T p.Q31X nonsense 0.00000827●●●●●●
9. 26507800 c.1199delA p.Asn401ThrfsTer54 frameshift 0.00000827●●●●●●
10. 26477330 c.97C>T p.R33X nonsense 0.00000827●●●●●●
11. 26496553 c.289delG p.Val97Ter frameshift 0.00000825●●●●●●
12. 26502184 c.811+1G>A essential splice site 0.00000825●●●●●●
13. 26508328 c.1278delG p.Gly427AspfsTer28 frameshift 0.00000824●●●●●●
14. 26502147 c.775delG p.Gly259AspfsTer34 frameshift 0.00000824●●●●●●
15. 26505870 c.1014-2A>T essential splice site 0.00000824●●●●●●
16. 26501622 c.583C>T p.Arg195Ter nonsense 0.00000824●●●●●●
17. 26501525 c.486delA p.Gly163ValfsTer5 frameshift 0.00000824●●●●●●
18. 26486348 c.209+1G>A essential splice site 0.00000824●●●●●●
19. 26507073 c.1149+1G>T essential splice site 0.00000824●●●●●●
20. 26492820 c.210-1G>T essential splice site 0.00000824●●●●●●
21. 26501586 c.547delA p.Met183CysfsTer16 frameshift 0.00000824●●●●●●
22. 26502064 c.692_693insCGCT p.Ala233ArgfsTer12 frameshift 0.00000824●●●●●●
23. 26501668 c.629_630+3delAGGTA essential splice site 0.00000824●●●●●●
24. 26508308 c.1258_1259delTG p.Trp420GlyfsTer63 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.