ClinVar Miner

List of variants in gene CTNS reported as pathogenic for Cystinosis

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Total variants: 18
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NM_001031681.2(CTNS):c.120del (p.Asn41fs) rs879255616
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.255_256CT[1] (p.Ser86fs) rs879255614
NM_001031681.2(CTNS):c.323del (p.Gln108fs) rs879255615
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.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.870C>G (p.Tyr290Ter) rs776842972
NM_001031681.2(CTNS):c.91dup (p.Val31fs) rs879255613
NM_001031681.2(CTNS):c.922G>A (p.Gly308Arg) rs746307931
NM_001031681.2(CTNS):c.926dup (p.Ser310fs) rs786204420

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