List of variants reported as likely pathogenic for Cystinosis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
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

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