ClinVar Miner

List of variants in gene CTNS reported by OMIM

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_004937.3(CTNS):c.-635G>C rs112140949 0.01378
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) rs121908127 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.462-10C>T rs765481486 0.00001
NC_000017.11:g.3636418G>T rs887657778
NC_000017.11:g.3636418_3636419insT
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.206_210del (p.Ile69fs) rs879758262
NM_004937.3(CTNS):c.283G>T (p.Gly95Ter) rs121908124
NM_004937.3(CTNS):c.329G>T (p.Gly110Val) rs121908129
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp) rs121908126
NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer) rs1567695026
NM_004937.3(CTNS):c.853-3C>G rs113994210
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys) rs121908128

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