List of variants reported as pathogenic for inborn disorder of lysosomal amino acid transport by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	rs769235753	0.00001
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	rs786204501
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)	rs1436441738
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)	rs759623796

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