SYNM truncating variants in ExAC

SYNM gene summary
SYNM variants in

The table below lists the SYNM 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. 0 c.702_703insG p.Ala235GlyfsTer39 frameshift 1.00000000●●●●●●
2. 99646003 c.598C>T p.Q200X nonsense 0.00167919●●●●●●
3. 99671617 c.3049G>T p.E1017X nonsense 0.00106936●●●●●●
4. 99646188 c.781_782insA p.Tyr261Ter frameshift 0.00061652●●●●●●
5. 99671298 c.2730delT p.Arg911GlufsTer26 frameshift 0.00054055●●●●●●
6. 99672582 c.4014_4017delAGAG p.Glu1339AlafsTer26 frameshift 0.00029005●●●●●●
7. 99671099 c.2531_2532insT p.Asp845Ter frameshift 0.00024026●●●●●●
8. 99671097 c.2529delA p.Asp844MetfsTer44 frameshift 0.00024025●●●●●●
9. 99672147 c.3579delT p.Ala1194ProfsTer73 frameshift 0.00018594●●●●●●
10. 99673217 c.4649_4652delTCTA p.Tyr1551Ter frameshift 0.00012609●●●●●●
11. 99673263 c.4695A>C p.X1565YextX1 nonsense 0.00005239●●●●●●
12. 99671108 c.2540C>A p.S847X nonsense 0.00004972●●●●●●
13. 99672356 c.3788delA p.Gln1263HisfsTer4 frameshift 0.00004159●●●●●●
14. 99669629 c.1061delG p.Asn355IlefsTer80 frameshift 0.00004145●●●●●●
15. 99672591 c.4023_4024delTG p.Val1342AlafsTer19 frameshift 0.00003314●●●●●●
16. 99666969 c.975G>A p.W325X nonsense 0.00003205●●●●●●
17. 99670114 c.1546C>T p.R516X nonsense 0.00002677●●●●●●
18. 99671828 c.3260_3261insCAGCT p.Gly1090AlafsTer32 frameshift 0.00002672●●●●●●
19. 99672069 c.3501delC p.Arg1168GlyfsTer3 frameshift 0.00002515●●●●●●
20. 99672897 c.4329delC p.Ser1443ArgfsTer5 frameshift 0.00002485●●●●●●
21. 99672731 c.4163_4165delCAGinsCG p.Ala1390GlnfsTer3 frameshift 0.00002484●●●●●●
22. 99671946 c.3378delA p.Lys1127AsnfsTer25 frameshift 0.00001688●●●●●●
23. 99672189 c.3621_3622delAG p.Glu1208ValfsTer22 frameshift 0.00001683●●●●●●
24. 99669796 c.1228C>T p.Q410X nonsense 0.00001657●●●●●●
25. 99671008 c.2440delG p.Val814TrpfsTer4 frameshift 0.00001656●●●●●●
26. 99671005 c.2437_2438insA p.His813GlnfsTer10 frameshift 0.00001656●●●●●●
27. 99671338 c.2770_2773delAAAG p.Glu925LeufsTer11 frameshift 0.00001359●●●●●●
28. 99671287 c.2719delA p.Glu908AsnfsTer29 frameshift 0.00001231●●●●●●
29. 99671253 c.2685_2686delCT p.Leu897GlyfsTer14 frameshift 0.00001125●●●●●●
30. 99671659 c.3091_3092insAGTC p.Val1034GlyfsTer19 frameshift 0.00000907●●●●●●
31. 99671582 c.3014C>G p.S1005X nonsense 0.00000899●●●●●●
32. 99670072 c.1504delA p.Ala503ProfsTer34 frameshift 0.00000868●●●●●●
33. 99653904 c.916G>T p.E306X nonsense 0.00000867●●●●●●
34. 99672241 c.3673A>T p.R1225X nonsense 0.00000840●●●●●●
35. 99672211 c.3643G>T p.G1215X nonsense 0.00000840●●●●●●
36. 99670628 c.2060delT p.Val687GlyfsTer5 frameshift 0.00000840●●●●●●
37. 99672081 c.3513_3514insC p.His1172ProfsTer59 frameshift 0.00000838●●●●●●
38. 99671980 c.3412C>T p.R1138X nonsense 0.00000838●●●●●●
39. 99672049 c.3481_3485delGCGAG p.Ala1161ProfsTer68 frameshift 0.00000838●●●●●●
40. 99669571 c.1004-1G>A essential splice site 0.00000837●●●●●●
41. 99670728 c.2160delA p.Ala721ProfsTer4 frameshift 0.00000837●●●●●●
42. 99672329 c.3761C>G p.S1254X nonsense 0.00000834●●●●●●
43. 99673156 c.4588C>T p.Q1530X nonsense 0.00000832●●●●●●
44. 99673132 c.4564C>T p.Q1522X nonsense 0.00000831●●●●●●
45. 99669919 c.1351G>T p.G451X nonsense 0.00000830●●●●●●
46. 99670963 c.2395delA p.Asn799IlefsTer19 frameshift 0.00000830●●●●●●
47. 99670972 c.2404C>T p.R802X nonsense 0.00000829●●●●●●
48. 99669625 c.1057G>T p.E353X nonsense 0.00000829●●●●●●
49. 99669779 c.1211delC p.Ser405ArgfsTer30 frameshift 0.00000828●●●●●●
50. 99672631 c.4063_4064insA p.His1355GlnfsTer7 frameshift 0.00000828●●●●●●
51. 99669791 c.1223delC p.Gln409SerfsTer26 frameshift 0.00000828●●●●●●
52. 99672697 c.4129G>T p.E1377X nonsense 0.00000828●●●●●●
53. 99672732 c.4164_4165delAG p.Ala1390ArgfsTer7 frameshift 0.00000828●●●●●●
54. 99672778 c.4210C>T p.R1404X nonsense 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.