ClinVar Miner

List of variants reported as pathogenic for Cystinosis by GeneReviews

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Total variants: 7
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NM_001031681.2(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_001031681.2(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_001031681.2(CTNS):c.397A>T (p.Ile133Phe) rs886040970
NM_001031681.2(CTNS):c.416C>T (p.Ser139Phe) rs267606754
NM_001031681.2(CTNS):c.544T>C (p.Trp182Arg) rs764168489
NM_001031681.2(CTNS):c.611_613ACG[1] (p.Asp205del) rs760256854
NM_001031681.2(CTNS):c.922G>A (p.Gly308Arg) rs746307931

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