ClinVar Miner

List of variants in gene CTNS reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.329+22C>G rs459613 0.88549
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_004937.3(CTNS):c.*300C>G rs2873624 0.19455
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_004937.3(CTNS):c.-634C>T rs138913261 0.05988
NM_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
NM_004937.3(CTNS):c.970+15G>A rs76153698 0.03340
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824 0.00664
NM_004937.3(CTNS):c.853-28C>T rs78671385 0.00563
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_004937.3(CTNS):c.481G>A (p.Asp161Asn) rs371533565 0.00002
NM_004937.3(CTNS):c.685G>T (p.Gly229Cys) rs200336280

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