Table 4 Potential novel pathogenic variants in the Qatari population with supporting literature
From: Burden of Mendelian disorders in a large Middle Eastern biobank
dbSNP-id:Â hgvs_c:Â hgvs_p | Gene | Reported literature phenotype | Inheritance | Carriers, zygosity | Carriers with relevant biobank phenotype | Biobank phenotype value (normal range) |
|---|---|---|---|---|---|---|
rs201725369: c.172C>T: p.Arg58Trp: | ANO5 | Miyoshi muscular dystrophy 3; MIM# 613319, Muscular dystrophy, limb-girdle, autosomal recessive 12a; MIM# 611307 | Recessive | 5 HOM | 5 | Creatine kinase level: 563, 572, 823, 1105, and 1811 (29–200 mmol/L) |
rs782312718: c.2363C>T: – | MLXIPL | Hyperuricemiab | Recessive | 5 HOM | 5 | Uric acid level: 183, 172, 163, 159, 196 (155–428 μmol/L) |