ClinVar Miner

List of variants in gene CTNS reported as likely benign for Cystinosis

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.*1031_*1033dup rs1355863772 0.18984
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390 0.00219
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn) rs139364393 0.00116
NM_004937.3(CTNS):c.834G>A (p.Leu278=) rs139519275 0.00094
NM_004937.3(CTNS):c.461+10del rs377470989 0.00077
NM_004937.3(CTNS):c.480C>T (p.Phe160=) rs147565118 0.00012
NM_004937.3(CTNS):c.684C>T (p.Arg228=) rs762346133 0.00009
NM_004937.3(CTNS):c.510C>T (p.Phe170=) rs747488464 0.00004
NM_004937.3(CTNS):c.117G>A (p.Ser39=) rs765428193 0.00003
NM_004937.3(CTNS):c.341G>A (p.Arg114His) rs559362332 0.00001
NM_004937.3(CTNS):c.966C>T (p.Asn322=) rs767301567 0.00001
NM_004937.3(CTNS):c.*1174CT[1] rs397857879
NM_004937.3(CTNS):c.1029C>T (p.Ile343=) rs147428183
NM_004937.3(CTNS):c.909C>T (p.Leu303=) rs1252160181
NM_004937.3(CTNS):c.969C>T (p.Asn323=) rs121908128

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