SYNE1 inframe variants in ExAC

SYNE1 gene summary
SYNE1 variants in

The table below lists the SYNE1 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. 152708226 c.8489_8491delATA p.Asp2830_Ile2831delinsVal inframe 0.00001651●●●●●●
2. 152529309 c.22409_22411dupGTA p.Ser7470dup inframe 0.00001648●●●●●●
3. 152536064 c.22110_22112delCTC p.Ser7371del inframe 0.00001648●●●●●●
4. 152472788 c.24137_24139dupGGG p.Arg8046_Asp8047insGly inframe 0.00000839●●●●●●
5. 152603115 c.17995_17997delGAG p.E5999del1 inframe 0.00000835●●●●●●
6. 152748862 c.5087_5092delGAGTCA p.Arg1696_Val1697del inframe 0.00000825●●●●●●
7. 152690196 c.9739_9740insCTC p.Gln3246_Leu3247insPro inframe 0.00000825●●●●●●
8. 152651577 c.14030_14032delAGC p.Gln4677del inframe 0.00000825●●●●●●
9. 152469230 c.24713_24715delAAG p.Glu8238del inframe 0.00000825●●●●●●
10. 152590400 c.18382_18384delGAG p.Glu6128del inframe 0.00000824●●●●●●
11. 152652914 c.12693_12695delGAT p.Met4231del inframe 0.00000824●●●●●●
12. 152501294 c.23224_23226delGAA p.Glu7742del inframe 0.00000824●●●●●●
13. 152646342 c.15321_15322insATATTCATT p.Lys5107_Ala5108insIlePheIle inframe 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.