ClinVar Miner

List of variants reported as pathogenic for Cystinosis by IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS)

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Total variants: 5
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HGVS dbSNP
NM_001031681.2(CTNS):c.120del (p.Asn41fs) rs879255616
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.91dup (p.Val31fs) rs879255613
NM_004937.2:c.661insT

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