ClinVar Miner

List of variants studied for Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis by Hadassah Hebrew University Medical Center

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Total variants: 2
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HGVS dbSNP
NM_004937.3(CTNS):c.587dup (p.Asn196fs) rs1597654857
NM_004937.3(CTNS):c.691C>T (p.Gln231Ter) rs1463026342

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