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

* 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.