ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_001909.5(CTSD):c.353-17C>T rs7126177 0.06731
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_001909.5(CTSD):c.828-17G>A rs78735768 0.05315
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_001909.5(CTSD):c.828-19A>C rs200047861 0.00494
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) rs138940129 0.00013
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr) rs779858404 0.00005
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys) rs769825646

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