RNF207 truncating variants in ExAC

RNF207 gene summary
RNF207 variants in

The table below lists the RNF207 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. 6269086 c.469+1_469+2insT essential splice site 0.00635893●●●●●●
2. 6272763 c.1504C>T p.R502X nonsense 0.00014068●●●●●●
3. 6272342 c.1348C>T p.R450X nonsense 0.00012480●●●●●●
4. 6278423 c.1727C>G p.S576X nonsense 0.00011871●●●●●●
5. 6269472 c.628-2A>T essential splice site 0.00011226●●●●●●
6. 6279448 c.1886_1889delGGAG p.Arg630AsnfsTer16 frameshift 0.00005960●●●●●●
7. 6271179 c.1109+1G>T essential splice site 0.00003665●●●●●●
8. 6278371 c.1675_1678delCAGT p.Ser560ArgfsTer50 frameshift 0.00003333●●●●●●
9. 6270999 c.1011+1G>A essential splice site 0.00002997●●●●●●
10. 6279467 c.1905G>A nonsense 0.00002600●●●●●●
11. 6272289 c.1297-2A>G essential splice site 0.00002589●●●●●●
12. 6272114 c.1296+1G>C essential splice site 0.00001910●●●●●●
13. 6271175 c.1106_1107delAC p.Thr370AlafsTer58 frameshift 0.00001675●●●●●●
14. 6270981 c.994delC p.Pro332LeufsTer44 frameshift 0.00001511●●●●●●
15. 6267548 c.301_302delTG p.Cys101Ter frameshift 0.00001231●●●●●●
16. 6271096 c.1027C>T p.R343X nonsense 0.00001126●●●●●●
17. 6272477 c.1482+1G>T essential splice site 0.00000896●●●●●●
18. 6272290 c.1297-1G>A essential splice site 0.00000862●●●●●●
19. 6279322 c.1760_1761delAG p.Lys590AspfsTer5 frameshift 0.00000835●●●●●●
20. 6279322 c.1760_1763delAGAG p.Glu589ArgfsTer21 frameshift 0.00000835●●●●●●
21. 6278376 c.1680_1681delAG p.Leu563ThrfsTer17 frameshift 0.00000833●●●●●●
22. 6278408 c.1712delG p.Asn572ThrfsTer39 frameshift 0.00000833●●●●●●
23. 6273150 c.1559_1560insGA p.Gln522GlyfsTer7 frameshift 0.00000832●●●●●●
24. 6270356 c.873+1G>T essential splice site 0.00000828●●●●●●

* 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.