ClinVar Miner

List of variants in gene CTNS reported as likely pathogenic for Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis

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Gene type:
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Total variants: 9
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NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)
NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter)
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206
NM_004937.3(CTNS):c.587dup (p.Asn196fs) rs1597654857
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_004937.3(CTNS):c.62-1G>A rs1597619719
NM_004937.3(CTNS):c.691C>T (p.Gln231Ter) rs1463026342

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