DNAJC1 truncating variants in ExAC

DNAJC1 gene summary
DNAJC1 variants in

The table below lists the DNAJC1 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. 22292290 c.74_83delCGCCGCCGCGinsCGCCGCCGCCG p.Arg28ProfsTer30 frameshift 0.00372173●●●●●●
2. 22292177 c.187C>T p.Q63X nonsense 0.00004622●●●●●●
3. 22209894 c.372-2A>G essential splice site 0.00004181●●●●●●
4. 22217968 c.324+1G>A essential splice site 0.00003031●●●●●●
5. 22217980 c.313C>T p.Q105X nonsense 0.00001803●●●●●●
6. 22095030 c.979-2A>G essential splice site 0.00001744●●●●●●
7. 22193511 c.760_763delGAAA p.Glu254GlnfsTer3 frameshift 0.00001699●●●●●●
8. 22208831 c.565_566delGA p.Glu189LysfsTer22 frameshift 0.00001664●●●●●●
9. 22208759 c.635+2T>A essential splice site 0.00001664●●●●●●
10. 22209855 c.409C>T p.R137X nonsense 0.00001653●●●●●●
11. 22094923 c.1084C>T p.R362X nonsense 0.00001651●●●●●●
12. 22217445 c.361C>T p.R121X nonsense 0.00001650●●●●●●
13. 22048228 c.1467_1468delAG p.Arg489SerfsTer29 frameshift 0.00001647●●●●●●
14. 22048233 c.1462G>T p.E488X nonsense 0.00001647●●●●●●
15. 22193542 c.730-1G>C essential splice site 0.00000922●●●●●●
16. 22208860 c.538-2A>G essential splice site 0.00000846●●●●●●
17. 22208767 c.629delA p.Asn210MetfsTer5 frameshift 0.00000831●●●●●●
18. 22048455 c.1240C>T p.R414X nonsense 0.00000831●●●●●●
19. 22048122 c.1573delA p.Arg525AspfsTer36 frameshift 0.00000829●●●●●●
20. 22207741 c.696C>A p.C232X nonsense 0.00000829●●●●●●
21. 22045686 c.1597-2A>G essential splice site 0.00000827●●●●●●
22. 22217436 c.370_371delAG p.Arg124ValfsTer2 frameshift 0.00000825●●●●●●
23. 22048407 c.1288_1304delTCCGGTGAGCAGGAGAC p.Ser430ArgfsTer4 frameshift 0.00000825●●●●●●
24. 22045677 c.1604_1605delGT p.Cys535TyrfsTer3 frameshift 0.00000825●●●●●●

* 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.