ClinVar Miner

List of variants in gene CTNS reported as likely benign for Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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NM_004937.3(CTNS):c.1035C>T (p.Phe345=) rs149007536
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390
NM_004937.3(CTNS):c.117G>A (p.Ser39=) rs765428193
NM_004937.3(CTNS):c.141-4A>C rs1437667230
NM_004937.3(CTNS):c.156A>G (p.Ala52=) rs1597623923
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn) rs139364393
NM_004937.3(CTNS):c.300T>C (p.Tyr100=) rs376042415
NM_004937.3(CTNS):c.341G>A (p.Arg114His) rs559362332
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser) rs200313254
NM_004937.3(CTNS):c.461+10del rs377470989
NM_004937.3(CTNS):c.480C>T (p.Phe160=) rs147565118
NM_004937.3(CTNS):c.510C>T (p.Phe170=) rs747488464
NM_004937.3(CTNS):c.561+4C>T rs111256750
NM_004937.3(CTNS):c.588C>T (p.Asn196=) rs757955245
NM_004937.3(CTNS):c.609C>T (p.Ser203=) rs200273011
NM_004937.3(CTNS):c.612C>T (p.Asn204=) rs200170842
NM_004937.3(CTNS):c.66A>C (p.Ser22=) rs748125070
NM_004937.3(CTNS):c.684C>T (p.Arg228=) rs762346133
NM_004937.3(CTNS):c.852+8C>T rs780856527
NM_004937.3(CTNS):c.853-6G>T rs775425630
NM_004937.3(CTNS):c.897T>C (p.Ile299=) rs199824920
NM_004937.3(CTNS):c.969C>T (p.Asn323=) rs121908128

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