SCARB1 truncating variants in ExAC

SCARB1 gene summary
SCARB1 variants in

The table below lists the SCARB1 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. 125294721 c.841C>T p.R281X nonsense 0.00002515●●●●●●
2. 125271025 c.1279_1280delCT p.Leu427SerfsTer49 frameshift 0.00001652●●●●●●
3. 125299618 c.327dupC p.Thr110HisfsTer42 frameshift 0.00001651●●●●●●
4. 125267232 c.1527_1528delGT p.Ter510Gly frameshift 0.00001649●●●●●●
5. 125271962 c.1244G>A p.W415X nonsense 0.00000873●●●●●●
6. 125299662 c.285-2A>C essential splice site 0.00000833●●●●●●
7. 125294837 c.727-2A>G essential splice site 0.00000828●●●●●●
8. 125299595 c.350_351insTGTCCTTCCTCGAGTACCG p.Thr118ValfsTer40 frameshift 0.00000825●●●●●●
9. 125292331 c.985C>T p.Q329X nonsense 0.00000825●●●●●●
10. 125292446 c.870delA p.Val292CysfsTer67 frameshift 0.00000825●●●●●●
11. 125294774 c.788_789insC p.Pro264AlafsTer6 frameshift 0.00000825●●●●●●

* 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.