List of variants reported as pathogenic for Lysinuric protein intolerance by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)	rs386833808	0.00006
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)	rs386833807	0.00003
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)	rs386833794

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