ClinVar Miner

List of variants studied for Nephropathic cystinosis by Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys) rs113875421 0.00007
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.681+8del rs2150923282

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