List of variants reported as likely pathogenic for inborn disorder of lysosomal amino acid transport by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)	rs386833993	0.00005
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)	rs386833992	0.00002
NM_012434.5(SLC17A5):c.1259+1G>A	rs146095590	0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)	rs1234745577	0.00001
NC_000006.11:g.(?_74303101)_(74310165_74320122)del
NC_000017.10:g.(?_3539761)_(3566398_?)del
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)	rs550254092
NM_004937.3(CTNS):c.423del (p.Phe142fs)	rs1567709909
NM_004937.3(CTNS):c.561+1del	rs786204667
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)	rs1597654770
NM_004937.3(CTNS):c.61_61+2del	rs2075652654
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)	rs2150925451
NM_004937.3(CTNS):c.850C>T (p.Gln284Ter)
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)	rs776842972
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)	rs727504157
NM_012434.5(SLC17A5):c.548A>G (p.His183Arg)	rs119491109
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)	rs755923873

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