ClinVar Miner

List of variants in gene CTSD reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.*67A>G rs12214 0.21384
NM_001909.5(CTSD):c.705-74C>T rs2292963 0.16703
NM_001909.5(CTSD):c.*597A>C rs8839 0.14604
NM_001909.5(CTSD):c.704+233G>A rs2292962 0.14572
NM_001909.5(CTSD):c.1072-34T>C rs112379600 0.08874
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_001909.5(CTSD):c.472-99G>A rs72850956 0.08384
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.827+41C>T rs111444735 0.05845
NM_001909.5(CTSD):c.828-17G>A rs78735768 0.05315
NM_001909.5(CTSD):c.472-161G>T rs60582924 0.04708
NM_001909.5(CTSD):c.*300G>A rs113940256 0.01455
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_001909.5(CTSD):c.846G>A (p.Gly282=) rs112021026 0.00567
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.*19G>A rs201434721 0.00493
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 0.00281
NM_001909.5(CTSD):c.951C>T (p.Ala317=) rs78306946 0.00211
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_001909.5(CTSD):c.353-11G>A rs372689713 0.00039
NM_001909.5(CTSD):c.827+13T>C rs369602025 0.00036
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_001909.5(CTSD):c.1071+7G>A rs374010531 0.00029
NM_001909.5(CTSD):c.828-18C>T rs377228580 0.00022
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822 0.00019
NM_001909.5(CTSD):c.294G>A (p.Thr98=) rs369373285 0.00019
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) rs138940129 0.00013
NM_001909.5(CTSD):c.957G>A (p.Pro319=) rs369229897 0.00013
NM_001909.5(CTSD):c.1122C>T (p.Asp374=) rs145821780 0.00011
NM_001909.5(CTSD):c.471+15G>C rs201413619 0.00008
NM_001909.5(CTSD):c.630C>T (p.Asn210=) rs375282504 0.00008
NM_001909.5(CTSD):c.261G>A (p.Thr87=) rs372181453 0.00007
NM_001909.5(CTSD):c.926G>A (p.Arg309His) rs374540411 0.00006
NM_001909.5(CTSD):c.704+6C>T rs370847523 0.00004
NM_001909.5(CTSD):c.432G>A (p.Ser144=) rs587780916 0.00003
NM_001909.5(CTSD):c.270G>A (p.Gln90=) rs587780915 0.00002
NM_001909.5(CTSD):c.1116C>T (p.Gly372=) rs557342549 0.00001
NM_001909.5(CTSD):c.828-14_828-13del rs796052395 0.00001
NM_001909.5(CTSD):c.229-87_229-86insCTTCAGGG rs142871900
NM_001909.5(CTSD):c.472-199C>T rs72850958
NM_001909.5(CTSD):c.704+58G>A rs56363318
NM_001909.5(CTSD):c.827+111del rs55725229

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