List of variants in gene CTNS reported as likely pathogenic for Cystinosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	rs113994206	0.00004
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)	rs2507777392
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)	rs776842972

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