ClinVar Miner

List of variants reported as uncertain significance for Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis by Invitae

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Total variants: 8
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HGVS dbSNP
NM_004937.3(CTNS):c.1029C>A (p.Ile343=)
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu) rs560868487
NM_004937.3(CTNS):c.139C>T (p.Arg47Trp)
NM_004937.3(CTNS):c.695G>A (p.Arg232His) rs142641674
NM_004937.3(CTNS):c.817A>G (p.Lys273Glu)
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro) rs1314998853
NM_004937.3(CTNS):c.838A>C (p.Lys280Gln)
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn) rs140326392

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