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We have also checked all three variants in the current version of IBVL (Release 1.1) ( and while p.(Asp59Gly) and p.(Gly227ValfsTer6) are completely absent, the p.(Gly263Arg) variant was present at a population frequency of 0.010309300 (12 heterozygous and no homozygous individuals) in the IBVL ( suggesting that it may be a founder variant of community significance