List of variants reported as benign for inborn disorder of lysosomal amino acid transport by Genome-Nilou Lab

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.329+22C>G	rs459613	0.88549
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile)	rs161400	0.84806
NM_001128227.3(GNE):c.51+34T>C	rs7875447	0.75717
NM_004937.3(CTNS):c.461+52G>A	rs467277	0.51389
NM_012434.5(SLC17A5):c.979-87A>G	rs628038	0.43140
NM_004937.3(CTNS):c.461+49A>G	rs457419	0.35954
NM_004937.3(CTNS):c.141-103G>A	rs222778	0.35912
NM_004937.3(CTNS):c.970+70C>T	rs222753	0.34692
NM_012434.5(SLC17A5):c.1112-36G>A	rs4708065	0.32463
NM_012434.5(SLC17A5):c.526-106G>T	rs3757111	0.22477
NM_004937.3(CTNS):c.*405G>A	rs760273	0.21386
NM_004937.3(CTNS):c.*300C>G	rs2873624	0.19455
NM_004937.3(CTNS):c.*421T>C	rs760274	0.19404
NM_004937.3(CTNS):c.*410A>G	rs3826496	0.19387
NM_012434.5(SLC17A5):c.819+52G>A	rs520589	0.16798
NM_012434.5(SLC17A5):c.819+79T>G	rs558839	0.16769
NM_012434.5(SLC17A5):c.820-51C>G	rs611580	0.16614
NM_012434.5(SLC17A5):c.978+70G>A	rs610260	0.16613
NM_012434.5(SLC17A5):c.978+88C>T	rs474661	0.16611
NM_005476.7(GNE):c.1817-81G>C	rs2296817	0.15990
NM_004937.3(CTNS):c.461+54G>A	rs12938401	0.15247
NM_004937.3(CTNS):c.504G>A (p.Thr168=)	rs1800528	0.14800
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)	rs472294	0.10691
NM_012434.5(SLC17A5):c.979-33G>A	rs12199937	0.05489
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=)	rs3757112	0.05389
NM_012434.5(SLC17A5):c.292-22T>C	rs12206001	0.05386
NM_012434.5(SLC17A5):c.1111+7G>A	rs146729568	0.01982
NM_001128227.3(GNE):c.51+63A>G	rs185045598	0.00436
NM_012434.5(SLC17A5):c.525+36G>C	rs12192476

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