ClinVar Miner

List of variants in gene CTSD studied for not specified

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Gene type:
ClinVar version:
Total variants: 69
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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.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.68+10C>T rs760082760 0.00020
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.*14C>T rs556410676 0.00013
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) rs138940129 0.00013
NM_001909.5(CTSD):c.1230C>T (p.Ala410=) rs772742148 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.1137C>T (p.Ser379=) rs141981301 0.00008
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.627C>T (p.Asn209=) rs772453588 0.00006
NM_001909.5(CTSD):c.534C>G (p.Val178=) rs758852382 0.00005
NM_001909.5(CTSD):c.1071+9G>A rs747408239 0.00004
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597 0.00004
NM_001909.5(CTSD):c.393C>T (p.Tyr131=) rs776128996 0.00004
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_001909.5(CTSD):c.510C>T (p.Gly170=) rs749196696 0.00004
NM_001909.5(CTSD):c.704+6C>T rs370847523 0.00004
NM_001909.5(CTSD):c.972+7G>A rs371747998 0.00004
NM_001909.5(CTSD):c.432G>A (p.Ser144=) rs587780916 0.00003
NM_001909.5(CTSD):c.704+18C>T rs371260793 0.00003
NM_001909.5(CTSD):c.828-5C>T rs762444592 0.00003
NM_001909.5(CTSD):c.945C>T (p.Ile315=) rs752172496 0.00003
NM_001909.5(CTSD):c.*10C>T rs768283127 0.00002
NM_001909.5(CTSD):c.270G>A (p.Gln90=) rs587780915 0.00002
NM_001909.5(CTSD):c.*11G>A rs377057633 0.00001
NM_001909.5(CTSD):c.*17G>A rs201616935 0.00001
NM_001909.5(CTSD):c.472-15T>C rs758874267 0.00001
NM_001909.5(CTSD):c.492G>A (p.Ser164=) rs577842448 0.00001
NM_001909.5(CTSD):c.552G>A (p.Lys184=) rs765849046 0.00001
NM_001909.5(CTSD):c.621C>A (p.Ser207=) rs367978332 0.00001
NM_001909.5(CTSD):c.636G>T (p.Leu212=) rs567625495 0.00001
NM_001909.5(CTSD):c.705-4C>T rs1057521968 0.00001
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) rs763407972 0.00001
NM_001909.5(CTSD):c.827+9T>A rs757270638 0.00001
NM_001909.5(CTSD):c.828-14_828-13del rs796052395 0.00001
NM_001909.5(CTSD):c.972+10G>A rs531682785 0.00001
NM_001909.5(CTSD):c.*15G>A rs745784791
NM_001909.5(CTSD):c.*4C>G rs1057521403
NM_001909.5(CTSD):c.1010C>T (p.Ala337Val) rs1057518324
NM_001909.5(CTSD):c.1071+12A>T rs113936232
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser) rs1845913637
NM_001909.5(CTSD):c.352+10G>C rs775828680
NM_001909.5(CTSD):c.497C>T (p.Ala166Val) rs796052396
NM_001909.5(CTSD):c.68+10C>G rs760082760
NM_001909.5(CTSD):c.770G>C (p.Gly257Ala) rs1057518289
NM_001909.5(CTSD):c.780C>T (p.Ser260=) rs1404000220
NM_001909.5(CTSD):c.867C>T (p.Gly289=) rs1200494428

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