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Table 4 GLA variants observed in JIA Patients cohort and its frequency in Normal population according to Vep Ensembl

From: Frequency of Fabry disease in a juvenile idiopathic arthritis cohort

Variants Description GLA Location Vep Ensembl Freq.
c.-10C > T rs2071225 5’UTR of exon 1 0.09546
c.-12G > A rs3027585 5’UTR of exon 1 0.06110
c.370-81_-77del rs5903184 2 0.1571
c.548-125C > G rs2071396 3 0.1372
c.548-162A > T Never described 3 Never described
c.640-16A > G rs2071397 4 0.1447
c.1000-22C > T rs2071228 6 0.2542