ClinVar Miner

List of variants reported as pathogenic for Cystinosis by Integrated Genetics/Laboratory Corporation of America

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Total variants: 6
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HGVS dbSNP
NM_001031681.2(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_001031681.2(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204
NM_001031681.2(CTNS):c.613G>A (p.Asp205Asn) rs113994208
NM_001031681.2(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_001031681.2(CTNS):c.853-2A>G rs1475322504
NM_001031681.2(CTNS):c.926dup (p.Ser310fs) rs786204420

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