HNRNPM inframe variants in ExAC


The table below lists the HNRNPM 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 frequencyPopulations*
1. 8550556 c.1244_1252delGCATGGAGC p.G415_R418delinsG inframe 0.00008333
2. 8551152 c.1840_1842delGGT p.G614del1 inframe 0.00005103
3. 8551145 c.1833_1834insGGTGGC p.Met611_Gly612insGlyGly inframe 0.00002553
4. 8550972 c.1660_1698delGGCCTGGAGCGCATGGGCGCCAACAATCTGGAGCGGATG p.Gly554_Met566del inframe 0.00002552
5. 8550666 c.1354_1355insCCGGCATTGAGCGCATGGGCC p.Ser452_Gly453insGlyIleGluArgMetGlyPro inframe 0.00001691
6. 8551080 c.1768_1812delGAGCGCATGGGCCCTGCCATGGGCCCGGCCCTGGGCGCTGGCATT p.Glu590_Ile604del inframe 0.00000857
7. 8551041 c.1729_1743delGAGCGCATGGGCCTG p.Glu577_Leu581del inframe 0.00000854
8. 8550879 c.1567_1587delGAGCGCATGGGCCTGAGCATG p.Glu523_Met529del inframe 0.00000849
9. 8550651 c.1339_1340insTGGAGCGCATGGGCTCCGGCA p.Val447_Glu448insGluArgMetGlySerGlyMet inframe 0.00000845
10. 8550563 c.1251_1252insCGCATGGGC p.Glu417_Arg418insArgMetGly inframe 0.00000836
11. 8539067 c.1059_1061delTGG p.Gly356del inframe 0.00000832
12. 8528477 c.345_347delTGT p.Val117del inframe 0.00000824
13. 8533685 c.862_864delTTC p.Phe288del inframe 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.