ClinVar Miner

List of variants in gene CTSD studied for not provided

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Gene type:
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Total variants: 94
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HGVS dbSNP
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.-12_-10GCC[5] (p.Met1_Gln2insAla) rs886043526
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.1023G>A (p.Lys341=) rs111849172
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu) rs796052406
NM_001909.5(CTSD):c.1062C>T (p.Tyr354=) rs764106396
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.111G>A (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val) rs767863175
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn) rs764522039
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338
NM_001909.5(CTSD):c.1185T>G (p.Thr395=) rs1565018468
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.1215C>A (p.Gly405=) rs138733377
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.153C>T (p.Pro51=) rs560041488
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.180A>G (p.Pro60=) rs749805002
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835
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.237C>T (p.Tyr79=) rs996421254
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg) rs199551387
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.267C>G (p.Pro89=) rs139154882
NM_001909.5(CTSD):c.268dup (p.Gln90fs) rs752612332
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597
NM_001909.5(CTSD):c.288C>T (p.Phe96=) rs778220078
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.346G>A (p.Ala116Thr) rs367743333
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.352+8A>T rs944771031
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.411G>A (p.Ser137=) rs372999684
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.472-161G>T rs60582924
NM_001909.5(CTSD):c.472-27G>T rs146434428
NM_001909.5(CTSD):c.492G>A (p.Ser164=) rs577842448
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.570C>T (p.Phe190=) rs1325097000
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys) rs769825646
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.63C>T (p.Leu21=) rs1021613206
NM_001909.5(CTSD):c.653T>C (p.Leu218Pro) rs1131691905
NM_001909.5(CTSD):c.68+251G>C rs147731370
NM_001909.5(CTSD):c.69-64C>T rs116662058
NM_001909.5(CTSD):c.697C>T (p.Leu233=) rs142330967
NM_001909.5(CTSD):c.704+233G>A rs2292962
NM_001909.5(CTSD):c.704+5G>A rs1064796905
NM_001909.5(CTSD):c.704+7G>A rs748547852
NM_001909.5(CTSD):c.705-74C>T rs2292963
NM_001909.5(CTSD):c.729T>C (p.Gly243=) rs774691757
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.75G>A (p.Pro25=) rs140563067
NM_001909.5(CTSD):c.76C>A (p.Leu26Met) rs1029534680
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.828-17G>A rs78735768
NM_001909.5(CTSD):c.828-19A>C rs200047861
NM_001909.5(CTSD):c.828-247_828-221del rs1219998189
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
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.912G>A (p.Pro304=) rs140238987
NM_001909.5(CTSD):c.924G>A (p.Val308=) rs1554962286
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu) rs373170074
NM_001909.5(CTSD):c.972+10G>A rs531682785
NM_001909.5(CTSD):c.972+9C>T rs746243061
NM_001909.5(CTSD):c.973-14G>A rs1354741089
NM_001909.5(CTSD):c.982C>G (p.Pro328Ala) rs796052397
NM_001909.5(CTSD):c.99C>G (p.Arg33=) rs1590908750

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