SNRPB missense variants in ExAC

SNRPB gene summary
SNRPB variants in

The table below lists the SNRPB missense 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. 2443363 c.604C>T p.P202S missense 0.00256098●●●●●●
2. 2442427 c.698C>T p.P233L missense 0.00023123●●●●●●
3. 2443352 c.615C>G p.I205M missense 0.00016908●●●●●●
4. 2443360 c.607A>G p.M203V missense 0.00007151●●●●●●
5. 2442418 c.707G>A p.R236H missense 0.00005236●●●●●●
6. 2443759 c.535A>G p.M179V missense 0.00004619●●●●●●
7. 2444454 c.359T>C p.M120T missense 0.00003424●●●●●●
8. 2444458 c.355C>T p.P119S missense 0.00003424●●●●●●
9. 2443764 c.530C>A p.P177Q missense 0.00002760●●●●●●
10. 2443807 c.487G>A p.G163R missense 0.00002621●●●●●●
11. 2443372 c.595A>G p.M199V missense 0.00001804●●●●●●
12. 2444413 c.400G>A p.V134I missense 0.00001746●●●●●●
13. 2443330 c.637A>G p.M213V missense 0.00001746●●●●●●
14. 2444470 c.343C>T p.P115S missense 0.00001713●●●●●●
15. 2443284 c.683G>A p.R228Q missense 0.00001711●●●●●●
16. 2448334 c.74G>A p.R25Q missense 0.00001648●●●●●●
17. 2448338 c.70G>A p.G24S missense 0.00001648●●●●●●
18. 2443738 c.556C>T p.P186S missense 0.00000939●●●●●●
19. 2443740 c.554C>T p.P185L missense 0.00000938●●●●●●
20. 2443741 c.553C>G p.P185A missense 0.00000938●●●●●●
21. 2443762 c.532C>T p.P178S missense 0.00000922●●●●●●
22. 2443764 c.530C>T p.P177L missense 0.00000920●●●●●●
23. 2443767 c.527C>T p.P176L missense 0.00000917●●●●●●
24. 2443395 c.572C>A p.P191Q missense 0.00000914●●●●●●
25. 2443780 c.514C>T p.R172C missense 0.00000900●●●●●●
26. 2442407 c.718C>A p.P240T missense 0.00000882●●●●●●
27. 2442413 c.712C>T p.P238S missense 0.00000876●●●●●●
28. 2443830 c.464C>T p.A155V missense 0.00000868●●●●●●
29. 2443322 c.645G>A p.M215I missense 0.00000868●●●●●●
30. 2443833 c.461C>T p.A154V missense 0.00000866●●●●●●
31. 2443837 c.457G>A p.A153T missense 0.00000864●●●●●●
32. 2443839 c.455C>T p.A152V missense 0.00000863●●●●●●
33. 2443846 c.448G>A p.V150I missense 0.00000862●●●●●●
34. 2443305 c.662G>A p.R221Q missense 0.00000859●●●●●●
35. 2444535 c.278C>T p.A93V missense 0.00000858●●●●●●
36. 2444470 c.343C>A p.P115T missense 0.00000857●●●●●●
37. 2444526 c.287C>T p.P96L missense 0.00000857●●●●●●
38. 2444464 c.349G>A p.G117R missense 0.00000857●●●●●●
39. 2443294 c.673C>A p.P225T missense 0.00000856●●●●●●
40. 2444455 c.358A>G p.M120V missense 0.00000856●●●●●●
41. 2442428 c.697C>T p.P233S missense 0.00000854●●●●●●
42. 2442431 c.694C>T p.P232S missense 0.00000850●●●●●●
43. 2442436 c.689C>T p.P230L missense 0.00000845●●●●●●
44. 2448389 c.19A>C p.S7R missense 0.00000826●●●●●●
45. 2448385 c.23A>G p.K8R missense 0.00000826●●●●●●
46. 2446450 c.171A>T p.K57N missense 0.00000825●●●●●●
47. 2448335 c.73C>G p.R25G missense 0.00000824●●●●●●
48. 2446445 c.176C>G p.A59G missense 0.00000824●●●●●●
49. 2446367 c.254C>T p.P85L missense 0.00000824●●●●●●
50. 2448326 c.82A>C p.I28L missense 0.00000824●●●●●●
51. 2448366 c.42T>A p.D14E missense 0.00000824●●●●●●
52. 2446383 c.238A>G p.M80V missense 0.00000824●●●●●●
53. 2448332 c.76A>G p.I26V missense 0.00000824●●●●●●
54. 2448296 c.112A>G p.M38V missense 0.00000824●●●●●●
55. 2446403 c.218G>A p.R73Q missense 0.00000824●●●●●●
56. 2448313 c.95A>C p.K32T missense 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.