ClinVar Miner

List of variants reported as benign for Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis

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Total variants: 11
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HGVS dbSNP
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_004937.3(CTNS):c.285A>T (p.Gly95=) rs373998956
NM_004937.3(CTNS):c.327C>T (p.Thr109=) rs150554216
NM_004937.3(CTNS):c.356G>A (p.Arg119His) rs375970075
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr) rs187396540
NM_004937.3(CTNS):c.462-7C>A rs189632527
NM_004937.3(CTNS):c.516C>T (p.Ala172=) rs143405190
NM_004937.3(CTNS):c.534C>T (p.Ile178=) rs113967200
NM_004937.3(CTNS):c.822C>T (p.Leu274=) rs150773117
NM_004937.3(CTNS):c.834G>A (p.Leu278=) rs139519275

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