ClinVar Miner

List of variants in gene CTSD studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
Download table as spreadsheet
HGVS dbSNP
NM_001909.4(CTSD):c.1009G>A (p.Ala337Thr) rs147800688
NM_001909.4(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.4(CTSD):c.101G>A (p.Arg34Gln) rs1240316419
NM_001909.4(CTSD):c.1023G>A (p.Lys341=) rs111849172
NM_001909.4(CTSD):c.1071+6C>T rs759803379
NM_001909.4(CTSD):c.1071+7G>A rs374010531
NM_001909.4(CTSD):c.1072-7G>A rs149019571
NM_001909.4(CTSD):c.1077G>A (p.Ser359=) rs138940129
NM_001909.4(CTSD):c.1084G>A (p.Gly362Arg) rs746733183
NM_001909.4(CTSD):c.1116C>T (p.Gly372=) rs557342549
NM_001909.4(CTSD):c.111G>A (p.Ser37=) rs535140505
NM_001909.4(CTSD):c.1122C>T (p.Asp374=) rs145821780
NM_001909.4(CTSD):c.1128G>A (p.Pro376=) rs929763593
NM_001909.4(CTSD):c.1149G>C (p.Trp383Cys) rs121912790
NM_001909.4(CTSD):c.1159G>A (p.Asp387Asn) rs764522039
NM_001909.4(CTSD):c.1183A>G (p.Thr395Ala)
NM_001909.4(CTSD):c.1196G>A (p.Arg399His) rs797045138
NM_001909.4(CTSD):c.1202A>G (p.Asn401Ser) rs147553344
NM_001909.4(CTSD):c.1208G>C (p.Arg403Thr) rs779858404
NM_001909.4(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.4(CTSD):c.1221C>T (p.Ala407=) rs1439111867
NM_001909.4(CTSD):c.1230C>T (p.Ala410=) rs772742148
NM_001909.4(CTSD):c.1235T>G (p.Leu412Arg) rs1554962202
NM_001909.4(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.4(CTSD):c.180A>G (p.Pro60=) rs749805002
NM_001909.4(CTSD):c.184G>A (p.Val62Met) rs756892066
NM_001909.4(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.4(CTSD):c.190G>A (p.Glu64Lys)
NM_001909.4(CTSD):c.199A>C (p.Ile67Leu) rs1335299144
NM_001909.4(CTSD):c.19C>G (p.Leu7Val) rs1470191996
NM_001909.4(CTSD):c.216G>A (p.Lys72=) rs764982673
NM_001909.4(CTSD):c.231C>T (p.Ala77=) rs2230067
NM_001909.4(CTSD):c.240C>T (p.Tyr80=) rs147641822
NM_001909.4(CTSD):c.253A>G (p.Ile85Val)
NM_001909.4(CTSD):c.271T>C (p.Cys91Arg) rs1042278213
NM_001909.4(CTSD):c.294G>A (p.Thr98=) rs369373285
NM_001909.4(CTSD):c.306C>T (p.Asn102=) rs1258957118
NM_001909.4(CTSD):c.345C>T (p.Ile115=) rs200875086
NM_001909.4(CTSD):c.352+10G>C rs775828680
NM_001909.4(CTSD):c.352+8A>T rs944771031
NM_001909.4(CTSD):c.353-12C>T rs141523461
NM_001909.4(CTSD):c.353-6G>A
NM_001909.4(CTSD):c.353-8C>T rs760934292
NM_001909.4(CTSD):c.393C>T (p.Tyr131=) rs776128996
NM_001909.4(CTSD):c.408C>G (p.Thr136=) rs1060504644
NM_001909.4(CTSD):c.410C>T (p.Ser137Leu) rs777645484
NM_001909.4(CTSD):c.432G>A (p.Ser144=) rs587780916
NM_001909.4(CTSD):c.446G>T (p.Gly149Val) rs797045137
NM_001909.4(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.4(CTSD):c.465_466invTG (p.Val156Met)
NM_001909.4(CTSD):c.470C>T (p.Ser157Leu) rs587779409
NM_001909.4(CTSD):c.471G>A (p.Ser157=)
NM_001909.4(CTSD):c.488C>T (p.Ala163Val) rs772976217
NM_001909.4(CTSD):c.511G>A (p.Gly171Ser) rs775460488
NM_001909.4(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.4(CTSD):c.566C>T (p.Thr189Ile) rs1554962634
NM_001909.4(CTSD):c.592A>G (p.Ile198Val) rs556334193
NM_001909.4(CTSD):c.630C>T (p.Asn210=) rs375282504
NM_001909.4(CTSD):c.636G>T (p.Leu212=) rs567625495
NM_001909.4(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001909.4(CTSD):c.64G>T (p.Val22Phe) rs1060502503
NM_001909.4(CTSD):c.685T>A (p.Phe229Ile) rs121912789
NM_001909.4(CTSD):c.686_688delTCT (p.Phe229del) rs1057519591
NM_001909.4(CTSD):c.751G>A (p.Asp251Asn) rs763407972
NM_001909.4(CTSD):c.75G>A (p.Pro25=) rs140563067
NM_001909.4(CTSD):c.816C>A (p.Val272=) rs1554962441
NM_001909.4(CTSD):c.827+13T>C rs369602025
NM_001909.4(CTSD):c.828-17G>A rs78735768
NM_001909.4(CTSD):c.828-4G>A rs371034011
NM_001909.4(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001909.4(CTSD):c.846G>A (p.Gly282=) rs112021026
NM_001909.4(CTSD):c.882G>A (p.Val294=) rs778999077
NM_001909.4(CTSD):c.891C>T (p.Gly297=) rs755183661
NM_001909.4(CTSD):c.8C>T (p.Pro3Leu) rs757712173
NM_001909.4(CTSD):c.90G>A (p.Thr30=) rs368529527
NM_001909.4(CTSD):c.912G>A (p.Pro304=) rs140238987
NM_001909.4(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.4(CTSD):c.933G>A (p.Leu311=) rs1428157464
NM_001909.4(CTSD):c.951C>T (p.Ala317=) rs78306946
NM_001909.4(CTSD):c.957G>A (p.Pro319=) rs369229897
NM_001909.4(CTSD):c.972+7G>A rs371747998
NM_001909.4(CTSD):c.972+9C>T rs746243061
NM_001909.4(CTSD):c.993G>C (p.Lys331Asn) rs1181418072
NM_001909.4:c.486-12G>A
NM_001909.5(CTSD):c.764dup (p.Tyr255Terfs) rs786205105

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.