ClinVar Miner

List of variants in gene CTSD studied for not provided

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Gene type:
ClinVar version:
Total variants: 101
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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.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.352+42T>C rs149907533 0.01641
NM_001909.5(CTSD):c.704+183G>A rs115786275 0.01477
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.352+48A>G rs139068420 0.01106
NM_001909.5(CTSD):c.472-27G>T rs146434428 0.00795
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_001909.5(CTSD):c.229-25C>T rs112184520 0.00603
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_001909.5(CTSD):c.827+73C>T rs201119619 0.00542
NM_001909.5(CTSD):c.*288G>A rs112529968 0.00541
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.912G>A (p.Pro304=) rs140238987 0.00281
NM_001909.5(CTSD):c.827+22C>T rs113641298 0.00253
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688 0.00025
NM_001909.5(CTSD):c.294G>A (p.Thr98=) rs369373285 0.00019
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg) rs138191189 0.00014
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) rs138940129 0.00013
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338 0.00013
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) rs147553344 0.00012
NM_001909.5(CTSD):c.592A>G (p.Ile198Val) rs556334193 0.00011
NM_001909.5(CTSD):c.614G>A (p.Arg205His) rs371522391 0.00010
NM_001909.5(CTSD):c.1137C>T (p.Ser379=) rs141981301 0.00008
NM_001909.5(CTSD):c.267C>G (p.Pro89=) rs139154882 0.00006
NM_001909.5(CTSD):c.411G>A (p.Ser137=) rs372999684 0.00006
NM_001909.5(CTSD):c.926G>A (p.Arg309His) rs374540411 0.00006
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr) rs779858404 0.00005
NM_001909.5(CTSD):c.37C>T (p.Leu13=) rs763474887 0.00005
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu) rs777645484 0.00005
NM_001909.5(CTSD):c.505C>G (p.Leu169Val) rs768487717 0.00005
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597 0.00004
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) rs796052407 0.00004
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn) rs796052401 0.00004
NM_001909.5(CTSD):c.447G>A (p.Gly149=) rs752032660 0.00004
NM_001909.5(CTSD):c.697C>T (p.Leu233=) rs142330967 0.00004
NM_001909.5(CTSD):c.828-4G>A rs371034011 0.00004
NM_001909.5(CTSD):c.972+9C>T rs746243061 0.00004
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) rs145905196 0.00003
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu) rs796052406 0.00001
NM_001909.5(CTSD):c.1116C>T (p.Gly372=) rs557342549 0.00001
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val) rs767863175 0.00001
NM_001909.5(CTSD):c.1158C>T (p.Gly386=) rs762076054 0.00001
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn) rs764522039 0.00001
NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys) rs766987476 0.00001
NM_001909.5(CTSD):c.229-19G>A rs368152533 0.00001
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg) rs199551387 0.00001
NM_001909.5(CTSD):c.346G>A (p.Ala116Thr) rs367743333 0.00001
NM_001909.5(CTSD):c.366G>A (p.Lys122=) rs369424685 0.00001
NM_001909.5(CTSD):c.489G>A (p.Ala163=) rs767476700 0.00001
NM_001909.5(CTSD):c.558A>G (p.Pro186=) rs755670512 0.00001
NM_001909.5(CTSD):c.63C>T (p.Leu21=) rs1021613206 0.00001
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) rs763407972 0.00001
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys) rs373621431 0.00001
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu) rs373170074 0.00001
NM_001909.5(CTSD):c.972+10G>A rs531682785 0.00001
NM_001909.5(CTSD):c.973-14G>A rs1354741089 0.00001
NM_001909.5(CTSD):c.982C>G (p.Pro328Ala) rs796052397 0.00001
NM_001909.5(CTSD):c.*207TC[2] rs199970387
NM_001909.5(CTSD):c.1023G>A (p.Lys341=) rs111849172
NM_001909.5(CTSD):c.1072-41G>C rs138305981
NM_001909.5(CTSD):c.1185T>G (p.Thr395=) rs1565018468
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu) rs750489880
NM_001909.5(CTSD):c.1211T>G (p.Val404Gly) rs796052399
NM_001909.5(CTSD):c.229-87_229-86insCTTCAGGG rs142871900
NM_001909.5(CTSD):c.241G>T (p.Gly81Trp) rs199551387
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala) rs796052400
NM_001909.5(CTSD):c.266C>T (p.Pro89Leu)
NM_001909.5(CTSD):c.268dup (p.Gln90fs) rs752612332
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser) rs1845913637
NM_001909.5(CTSD):c.380A>G (p.Lys127Arg)
NM_001909.5(CTSD):c.443C>T (p.Ser148Phe) rs796052402
NM_001909.5(CTSD):c.472-199C>T rs72850958
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.5(CTSD):c.561C>T (p.Gly187=) rs796052405
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys) rs769825646
NM_001909.5(CTSD):c.653T>C (p.Leu218Pro) rs1131691905
NM_001909.5(CTSD):c.704+58G>A rs56363318
NM_001909.5(CTSD):c.704+5G>A rs1064796905
NM_001909.5(CTSD):c.704+7G>A rs748547852
NM_001909.5(CTSD):c.705-21A>T rs2292964
NM_001909.5(CTSD):c.705-3T>G rs112817417
NM_001909.5(CTSD):c.827+111del rs55725229
NM_001909.5(CTSD):c.828-247_828-221del rs1219998189
NM_001909.5(CTSD):c.877A>C (p.Ile293Leu) rs748185051
NM_001909.5(CTSD):c.904G>T (p.Val302Leu) rs749491748
NM_001909.5(CTSD):c.924G>A (p.Val308=) rs1554962286
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222

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