NF1 truncating variants in ExAC

NF1 gene summary
NF1 variants in

The table below lists the NF1 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. 29553478 c.2027dupC p.Ile679AspfsTer21 frameshift 0.00005811●●●●●●
2. 29676136 c.7127-2A>T essential splice site 0.00005444●●●●●●
3. 29586148 c.4367+1G>A essential splice site 0.00001497●●●●●●
4. 29541474 c.1398_1399insA p.Thr467AsnfsTer3 frameshift 0.00000855●●●●●●
5. 29664385 c.6365-1G>A essential splice site 0.00000851●●●●●●
6. 29653269 c.5204_5205+2delAAGT essential splice site 0.00000841●●●●●●
7. 29497003 c.574C>T p.R192X nonsense 0.00000839●●●●●●
8. 29664845 c.6588_6589delGA p.Asp2198TyrfsTer22 frameshift 0.00000837●●●●●●
9. 29670149 c.7122delA p.Tyr2377ThrfsTer20 frameshift 0.00000836●●●●●●
10. 29528489 c.1246C>T p.R416X nonsense 0.00000836●●●●●●
11. 29559208 c.3314+1G>A essential splice site 0.00000832●●●●●●
12. 29553474 c.2023G>T p.G675X nonsense 0.00000830●●●●●●
13. 29553478 c.2027delC p.Pro678ArgfsTer10 frameshift 0.00000830●●●●●●
14. 29486063 c.240_241delTC p.Gln83ValfsTer23 frameshift 0.00000830●●●●●●
15. 29559901 c.3496+2T>A essential splice site 0.00000827●●●●●●
16. 29556874 c.2872_2875delACTC p.Thr958AsnfsTer3 frameshift 0.00000826●●●●●●
17. 29553697 c.2246C>G p.S749X nonsense 0.00000826●●●●●●
18. 29664596 c.6575delT p.Met2192ArgfsTer5 frameshift 0.00000825●●●●●●
19. 29553492 c.2041C>T p.R681X nonsense 0.00000825●●●●●●
20. 29665757 c.6792C>G p.Y2264X nonsense 0.00000825●●●●●●
21. 29562746 c.3826C>T p.R1276X nonsense 0.00000824●●●●●●
22. 29527591 c.1040delA p.Gln347ArgfsTer29 frameshift 0.00000824●●●●●●
23. 29533315 c.1318C>T p.R440X nonsense 0.00000824●●●●●●
24. 29576111 c.4084C>T p.R1362X nonsense 0.00000824●●●●●●
25. 29556258 c.2625delT p.Ser876LeufsTer2 frameshift 0.00000824●●●●●●
26. 29527472 c.921_922insG p.Ala308GlyfsTer7 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.