MYPN truncating variants in ExAC

MYPN gene summary
MYPN variants in

The table below lists the MYPN 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. 69970212 c.3963A>G nonsense 0.00014002●●●●●●
2. 69902873 c.1078+1G>A essential splice site 0.00004156●●●●●●
3. 69934150 c.2301delC p.Ser769LeufsTer92 frameshift 0.00001648●●●●●●
4. 69970045 c.3796C>T p.Q1266X nonsense 0.00001648●●●●●●
5. 69882048 c.853C>T p.R285X nonsense 0.00000835●●●●●●
6. 69909869 c.1317+1G>A essential splice site 0.00000826●●●●●●
7. 69955290 c.3158+1G>A essential splice site 0.00000825●●●●●●
8. 69881786 c.591_592delCA p.Ser198PhefsTer24 frameshift 0.00000825●●●●●●
9. 69905282 c.1129C>T p.R377X nonsense 0.00000825●●●●●●
10. 69881295 c.100C>T p.R34X nonsense 0.00000825●●●●●●
11. 69935078 c.2565-2A>G essential splice site 0.00000825●●●●●●
12. 69881490 c.295C>T p.R99X nonsense 0.00000825●●●●●●
13. 69970204 c.3955G>T p.E1319X nonsense 0.00000824●●●●●●
14. 69935168 c.2653C>T p.R885X nonsense 0.00000824●●●●●●
15. 69926267 c.1817delA p.Asp606AlafsTer13 frameshift 0.00000824●●●●●●
16. 69959181 c.3342_3343delAC p.P1115Rfs*19 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.