List of variants reported as benign for essential fructosuria by Illumina Laboratory Services, Illumina

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_006488.3(KHK):c.-469A>C	rs6742004	0.50895
NM_006488.3(KHK):c.145G>A (p.Val49Ile)	rs2304681	0.36761
NM_006488.3(KHK):c.*767C>T	rs1131375	0.32419
NM_006488.3(KHK):c.-449T>G	rs116028777	0.06231
NM_006488.3(KHK):c.-444C>A	rs116365550	0.06226
NM_006488.3(KHK):c.210-328A>G	rs74537742	0.06212
NM_006488.3(KHK):c.*580T>C	rs7573066	0.03950
NM_006488.3(KHK):c.-324C>T	rs114973335	0.03642
NM_006488.3(KHK):c.*754T>C	rs73921452	0.02190
NM_006488.3(KHK):c.*806G>A	rs113859516	0.02073
NM_006488.3(KHK):c.*79G>A	rs75067630	0.01036
NM_006488.3(KHK):c.*1009T>G	rs78413769	0.01034
NM_006488.3(KHK):c.*540G>C	rs60769101	0.00934
NM_006488.3(KHK):c.879C>A (p.Gly293=)	rs116026105	0.00740
NM_006488.3(KHK):c.-245G>A	rs192615638	0.00724
NM_006488.3(KHK):c.159C>T (p.Leu53=)	rs112920456	0.00463
NM_006488.3(KHK):c.*1008G>A	rs114062151	0.00364
NM_006488.3(KHK):c.811+5G>C	rs7578864	0.00289
NM_006488.3(KHK):c.*505G>A	rs78939351	0.00094
NM_006488.3(KHK):c.*554C>T	rs558714226	0.00004

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