ClinVar Miner

List of variants in gene CTSD reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP
GRCh37/hg19 11p15.5(chr11:1774508-1785629)x3
NC_000011.10:g.1764137C>T rs536065000
NC_000011.10:g.1764171T>C rs144932926
NC_000011.10:g.1764217C>T rs191726273
NM_001909.5(CTSD):c.*10C>T rs768283127
NM_001909.5(CTSD):c.*11G>A rs377057633
NM_001909.5(CTSD):c.*14C>T rs556410676
NM_001909.5(CTSD):c.*15G>A rs745784791
NM_001909.5(CTSD):c.*17G>A rs201616935
NM_001909.5(CTSD):c.*19G>A rs201434721
NM_001909.5(CTSD):c.*4C>G rs1057521403
NM_001909.5(CTSD):c.-24C>T rs587780917
NM_001909.5(CTSD):c.-30G>C rs937590868
NM_001909.5(CTSD):c.-32C>T rs1057523809
NM_001909.5(CTSD):c.-36G>C rs1474705113
NM_001909.5(CTSD):c.-37G>A rs756112449
NM_001909.5(CTSD):c.-40C>T rs780212490
NM_001909.5(CTSD):c.-45A>G rs1167050955
NM_001909.5(CTSD):c.-6G>T rs951801692
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.5(CTSD):c.1010C>T (p.Ala337Val) rs1057518324
NM_001909.5(CTSD):c.1023G>A (p.Lys341=) rs111849172
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu) rs796052406
NM_001909.5(CTSD):c.1071+12A>G rs113936232
NM_001909.5(CTSD):c.1071+12A>T rs113936232
NM_001909.5(CTSD):c.1071+7G>A rs374010531
NM_001909.5(CTSD):c.1071+9G>A rs747408239
NM_001909.5(CTSD):c.1072-34T>C rs112379600
NM_001909.5(CTSD):c.1072-7G>A rs149019571
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) rs138940129
NM_001909.5(CTSD):c.1116C>T (p.Gly372=) rs557342549
NM_001909.5(CTSD):c.1122C>T (p.Asp374=) rs145821780
NM_001909.5(CTSD):c.1137C>T (p.Ser379=) rs141981301
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val) rs767863175
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) rs147553344
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.1230C>T (p.Ala410=) rs772742148
NM_001909.5(CTSD):c.131A>T (p.Glu44Val) rs1554963026
NM_001909.5(CTSD):c.135C>G (p.Asp45Glu) rs573939509
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) rs764386803
NM_001909.5(CTSD):c.153C>T (p.Pro51=) rs560041488
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) rs143517230
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.5(CTSD):c.174G>A (p.Ala58=) rs565191387
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.216G>A (p.Lys72=) rs764982673
NM_001909.5(CTSD):c.228+18G>T rs376354665
NM_001909.5(CTSD):c.228C>T (p.Asp76=) rs587780914
NM_001909.5(CTSD):c.229-19G>A rs368152533
NM_001909.5(CTSD):c.229-25C>T rs112184520
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg) rs199551387
NM_001909.5(CTSD):c.261G>A (p.Thr87=) rs372181453
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala) rs796052400
NM_001909.5(CTSD):c.267C>G (p.Pro89=) rs139154882
NM_001909.5(CTSD):c.268dup (p.Gln90fs) rs752612332
NM_001909.5(CTSD):c.270G>A (p.Gln90=) rs587780915
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597
NM_001909.5(CTSD):c.294G>A (p.Thr98=) rs369373285
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) rs796052407
NM_001909.5(CTSD):c.352+10G>C rs775828680
NM_001909.5(CTSD):c.352+42T>C rs149907533
NM_001909.5(CTSD):c.352+48A>G rs139068420
NM_001909.5(CTSD):c.353-11G>A rs372689713
NM_001909.5(CTSD):c.353-12C>T rs141523461
NM_001909.5(CTSD):c.353-17C>T rs7126177
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn) rs796052401
NM_001909.5(CTSD):c.393C>T (p.Tyr131=) rs776128996
NM_001909.5(CTSD):c.432G>A (p.Ser144=) rs587780916
NM_001909.5(CTSD):c.443C>T (p.Ser148Phe) rs796052402
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.5(CTSD):c.471+15G>C rs201413619
NM_001909.5(CTSD):c.472-15T>C rs758874267
NM_001909.5(CTSD):c.472-161G>T rs60582924
NM_001909.5(CTSD):c.472-27G>T rs146434428
NM_001909.5(CTSD):c.489G>A (p.Ala163=) rs767476700
NM_001909.5(CTSD):c.492G>A (p.Ser164=) rs577842448
NM_001909.5(CTSD):c.497C>T (p.Ala166Val) rs796052396
NM_001909.5(CTSD):c.510C>T (p.Gly170=) rs749196696
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.5(CTSD):c.534C>G (p.Val178=) rs758852382
NM_001909.5(CTSD):c.552G>A (p.Lys184=) rs765849046
NM_001909.5(CTSD):c.561C>T (p.Gly187=) rs796052405
NM_001909.5(CTSD):c.621C>A (p.Ser207=) rs367978332
NM_001909.5(CTSD):c.627C>T (p.Asn209=) rs772453588
NM_001909.5(CTSD):c.630C>T (p.Asn210=) rs375282504
NM_001909.5(CTSD):c.636G>T (p.Leu212=) rs567625495
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.653T>C (p.Leu218Pro) rs1131691905
NM_001909.5(CTSD):c.68+10C>G rs760082760
NM_001909.5(CTSD):c.68+10C>T rs760082760
NM_001909.5(CTSD):c.68+251G>C rs147731370
NM_001909.5(CTSD):c.69-12C>T rs764025297
NM_001909.5(CTSD):c.69-16G>A rs377703110
NM_001909.5(CTSD):c.69-17C>A rs371858126
NM_001909.5(CTSD):c.69-17C>T rs371858126
NM_001909.5(CTSD):c.69-64C>T rs116662058
NM_001909.5(CTSD):c.704+18C>T rs371260793
NM_001909.5(CTSD):c.704+233G>A rs2292962
NM_001909.5(CTSD):c.704+5G>A rs1064796905
NM_001909.5(CTSD):c.704+6C>T rs370847523
NM_001909.5(CTSD):c.705-4C>T rs1057521968
NM_001909.5(CTSD):c.705-74C>T rs2292963
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) rs763407972
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg) rs138191189
NM_001909.5(CTSD):c.76C>A (p.Leu26Met) rs1029534680
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.796C>T (p.Arg266Cys) rs373621431
NM_001909.5(CTSD):c.7C>T (p.Pro3Ser) rs952058991
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) rs145905196
NM_001909.5(CTSD):c.827+13T>C rs369602025
NM_001909.5(CTSD):c.827+9T>A rs757270638
NM_001909.5(CTSD):c.828-14_828-13del rs796052395
NM_001909.5(CTSD):c.828-18C>T rs377228580
NM_001909.5(CTSD):c.828-19A>C rs200047861
NM_001909.5(CTSD):c.828-247_828-221del rs1219998189
NM_001909.5(CTSD):c.828-4G>A rs371034011
NM_001909.5(CTSD):c.828-5C>T rs762444592
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001909.5(CTSD):c.846G>A (p.Gly282=) rs112021026
NM_001909.5(CTSD):c.867C>T (p.Gly289=) rs1200494428
NM_001909.5(CTSD):c.877A>C (p.Ile293Leu) rs748185051
NM_001909.5(CTSD):c.89C>T (p.Thr30Met) rs747274524
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987
NM_001909.5(CTSD):c.924G>A (p.Val308=) rs1554962286
NM_001909.5(CTSD):c.926G>A (p.Arg309His) rs374540411
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.945C>T (p.Ile315=) rs752172496
NM_001909.5(CTSD):c.951C>T (p.Ala317=) rs78306946
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu) rs373170074
NM_001909.5(CTSD):c.957G>A (p.Pro319=) rs369229897
NM_001909.5(CTSD):c.972+10G>A rs531682785
NM_001909.5(CTSD):c.972+7G>A rs371747998
NM_001909.5(CTSD):c.973-14G>A rs1354741089
NM_001909.5(CTSD):c.982C>G (p.Pro328Ala) rs796052397

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