DMD inframe variants in ExAC

DMD gene summary
DMD variants in

The table below lists the DMD inframe 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. 31152236 c.10997_10999delCCT p.Ser3666del inframe 0.00004801●●●●●●
2. 32364102 c.5544_5549delGATAAA p.Ile1849_Lys1850del inframe 0.00002351●●●●●●
3. 32503040 c.2799_2801delGAC p.Thr934del inframe 0.00001388●●●●●●
4. 32235150 c.6321_6323delGCG p.Arg2108del inframe 0.00001258●●●●●●
5. 31152240 c.10993_10995delAAC p.Asn3665del inframe 0.00001197●●●●●●
6. 32364092 c.5554_5565delCAGCTGTTACAG p.Gln1852_Gln1855del inframe 0.00001180●●●●●●
7. 31164486 c.10843_10845delTCT p.Ser3615del inframe 0.00001166●●●●●●
8. 32509524 c.2492_2494delACA p.Asn831del inframe 0.00001150●●●●●●
9. 32583929 c.1882_1884delCTT p.Leu628del inframe 0.00001145●●●●●●
10. 32382785 c.5068_5070delCAC p.His1690del inframe 0.00001143●●●●●●
11. 31462658 c.9024_9038dupGCTCTCACCGTATAA p.Tyr3012_Asn3013insLysLeuSerProTyr inframe 0.00001141●●●●●●
12. 32834734 c.381_383delCAT p.Ile127del inframe 0.00001141●●●●●●

* 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.