ClinVar Miner

List of variants reported as likely pathogenic for Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis by Invitae

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Total variants: 3

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HGVS	dbSNP
NM_004937.3(CTNS):c.141-1G>A
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	rs113994206
NM_004937.3(CTNS):c.62-1G>A	rs1597619719

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