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First, because our mutation would be ENU induced, we expected it should not be a common polymorphism contained within dbSNP.
p.D1822V is a missense variant previously shown to be a common polymorphism unrelated to the risk of developing CRC or colorectal adenoma [ 18, 19].
Evaluation of 282 alleles belonging to either healthy or hypothyroid subjects revealed that R133W-PAX8 does not seem to be a common polymorphism and therefore it is probably a rare variant.
At the start of this series, this was believed to be a pathogenic mutation, 32 but over time other studies had shown it to be a common polymorphism in Asians.
They may also be "tagging" another polymorphism, but if so, this is unlikely to be a common polymorphism in exon 2 as sequencing in 150 ADHD male probands and nearly 100 controls did not reveal any new mutations.
The 63 bp ins/del variant, although being rare in Western populations with an MAF of less than 1% [ 21] and not being included in the current public database of the Chinese Han population, is shown to be a common polymorphism in the Chinese Han population, showing 7.7% in Chongqing and 6.3% in Zhejiang populations, respectively, in our study cohorts.
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Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population.
Of note were a common polymorphism (30% of the population) at position 521 of KLKB1 cDNA, which leads to the replacement of asparagine with a serine at position 124 in the heavy chain of the A2 domain of the protein.
However, a mutation in the gene for the iron export protein ferroportin, which is associated with mild anemia and a tendency to iron loading, is a common polymorphism in the African populations [58], [59].
We should keep in mind that F1074L is a common polymorphism found in the general population.
deletion polymorphisms described in these studies within the region, only one is a common polymorphism (minor allele frequency > 5%).
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