ClinVar Miner

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

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 188
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HGVS dbSNP
NM_001909.4:c.486-12G>A
NM_001909.5(CTSD):c.*117C>T rs527778631
NM_001909.5(CTSD):c.*130G>A
NM_001909.5(CTSD):c.*133G>A
NM_001909.5(CTSD):c.*140G>T rs551607350
NM_001909.5(CTSD):c.*19G>A rs201434721
NM_001909.5(CTSD):c.*200C>G
NM_001909.5(CTSD):c.*210C>G
NM_001909.5(CTSD):c.*300G>A rs113940256
NM_001909.5(CTSD):c.*330G>T
NM_001909.5(CTSD):c.*342C>T rs1050822
NM_001909.5(CTSD):c.*356C>G rs886048062
NM_001909.5(CTSD):c.*358C>T rs542969755
NM_001909.5(CTSD):c.*375A>G
NM_001909.5(CTSD):c.*390G>A
NM_001909.5(CTSD):c.*398G>A
NM_001909.5(CTSD):c.*403C>T rs140852332
NM_001909.5(CTSD):c.*494C>T
NM_001909.5(CTSD):c.*509C>T
NM_001909.5(CTSD):c.*555C>A
NM_001909.5(CTSD):c.*574C>T rs886048061
NM_001909.5(CTSD):c.*58C>T rs886048063
NM_001909.5(CTSD):c.*597A>C rs8839
NM_001909.5(CTSD):c.*651C>T
NM_001909.5(CTSD):c.*654C>T rs148490566
NM_001909.5(CTSD):c.*67A>G rs12214
NM_001909.5(CTSD):c.*694G>A rs751538234
NM_001909.5(CTSD):c.*736C>G rs577842141
NM_001909.5(CTSD):c.*98G>A
NM_001909.5(CTSD):c.-24C>T rs587780917
NM_001909.5(CTSD):c.-37G>A rs756112449
NM_001909.5(CTSD):c.-3G>T rs541792699
NM_001909.5(CTSD):c.-47A>G rs886048067
NM_001909.5(CTSD):c.-53C>T rs530324803
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.101G>A (p.Arg34Gln) rs1240316419
NM_001909.5(CTSD):c.1023G>A (p.Lys341=) rs111849172
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg)
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu) rs765270800
NM_001909.5(CTSD):c.1071+12A>G rs113936232
NM_001909.5(CTSD):c.1071+6C>T rs759803379
NM_001909.5(CTSD):c.1071+7G>A rs374010531
NM_001909.5(CTSD):c.1072-7G>A rs149019571
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183
NM_001909.5(CTSD):c.1101G>A (p.Leu367=) rs777289049
NM_001909.5(CTSD):c.1116C>T (p.Gly372=) rs557342549
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile) rs796052398
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.111G>C (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.1122C>T (p.Asp374=) rs145821780
NM_001909.5(CTSD):c.1128G>A (p.Pro376=) rs929763593
NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys) rs121912790
NM_001909.5(CTSD):c.1158C>T (p.Gly386=)
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.1183A>G (p.Thr395Ala) rs778724059
NM_001909.5(CTSD):c.1196G>A (p.Arg399His) rs797045138
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) rs147553344
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr) rs779858404
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.5(CTSD):c.1221C>T (p.Ala407=) rs1439111867
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys)
NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro)
NM_001909.5(CTSD):c.1230C>T (p.Ala410=) rs772742148
NM_001909.5(CTSD):c.1232G>A (p.Arg411His)
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg) rs1554962202
NM_001909.5(CTSD):c.141T>G (p.Ile47Met) rs545927559
NM_001909.5(CTSD):c.142G>A (p.Ala48Thr) rs555516403
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) rs764386803
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.184G>A (p.Val62Met) rs756892066
NM_001909.5(CTSD):c.184G>T (p.Val62Leu)
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.190G>A (p.Glu64Lys) rs539823013
NM_001909.5(CTSD):c.190G>C (p.Glu64Gln)
NM_001909.5(CTSD):c.199A>C (p.Ile67Leu) rs1335299144
NM_001909.5(CTSD):c.19C>G (p.Leu7Val) rs1470191996
NM_001909.5(CTSD):c.203C>T (p.Pro68Leu)
NM_001909.5(CTSD):c.215A>G (p.Lys72Arg)
NM_001909.5(CTSD):c.216G>A (p.Lys72=) rs764982673
NM_001909.5(CTSD):c.223A>G (p.Met75Val) rs144192783
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.253A>G (p.Ile85Val) rs1565022412
NM_001909.5(CTSD):c.261G>A (p.Thr87=) rs372181453
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg) rs1042278213
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597
NM_001909.5(CTSD):c.285C>T (p.Val95=)
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser)
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.301T>C (p.Ser101Pro) rs1049074086
NM_001909.5(CTSD):c.306C>T (p.Asn102=) rs1258957118
NM_001909.5(CTSD):c.307C>G (p.Leu103Val)
NM_001909.5(CTSD):c.315C>A (p.Val105=)
NM_001909.5(CTSD):c.345C>T (p.Ile115=) rs200875086
NM_001909.5(CTSD):c.353-12C>T rs141523461
NM_001909.5(CTSD):c.353-6G>A rs1565022065
NM_001909.5(CTSD):c.353-8C>T rs760934292
NM_001909.5(CTSD):c.358C>T (p.His120Tyr)
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp) rs1590907227
NM_001909.5(CTSD):c.393C>T (p.Tyr131=) rs776128996
NM_001909.5(CTSD):c.408C>G (p.Thr136=) rs1060504644
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr)
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu) rs777645484
NM_001909.5(CTSD):c.432G>A (p.Ser144=) rs587780916
NM_001909.5(CTSD):c.446G>T (p.Gly149Val) rs797045137
NM_001909.5(CTSD):c.447G>A (p.Gly149=) rs752032660
NM_001909.5(CTSD):c.463A>T (p.Thr155Ser)
NM_001909.5(CTSD):c.464_465delinsGC (p.Thr155Ser)
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.5(CTSD):c.465_466inv (p.Val156Met)
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409
NM_001909.5(CTSD):c.471G>A (p.Ser157=) rs760318745
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg)
NM_001909.5(CTSD):c.488C>T (p.Ala163Val) rs772976217
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu)
NM_001909.5(CTSD):c.49C>T (p.Pro17Ser)
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser) rs775460488
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr) rs796052403
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.566C>T (p.Thr189Ile) rs1554962634
NM_001909.5(CTSD):c.592A>G (p.Ile198Val) rs556334193
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys) rs769825646
NM_001909.5(CTSD):c.614G>A (p.Arg205His)
NM_001909.5(CTSD):c.622G>A (p.Val208Ile)
NM_001909.5(CTSD):c.630C>T (p.Asn210=) rs375282504
NM_001909.5(CTSD):c.631G>A (p.Val211Met)
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.640G>A (p.Val214Ile)
NM_001909.5(CTSD):c.646G>A (p.Asp216Asn)
NM_001909.5(CTSD):c.64G>T (p.Val22Phe) rs1060502503
NM_001909.5(CTSD):c.659A>C (p.Gln220Pro) rs886048066
NM_001909.5(CTSD):c.660G>C (p.Gln220His) rs762797920
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg)
NM_001909.5(CTSD):c.68+6G>A rs1011130987
NM_001909.5(CTSD):c.683_685TCT[1] (p.Phe229del) rs1057519591
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile) rs121912789
NM_001909.5(CTSD):c.6G>A (p.Gln2=) rs1328097097
NM_001909.5(CTSD):c.704+6C>T rs370847523
NM_001909.5(CTSD):c.70A>T (p.Ile24Phe)
NM_001909.5(CTSD):c.716C>T (p.Ala239Val)
NM_001909.5(CTSD):c.73C>T (p.Pro25Ser)
NM_001909.5(CTSD):c.74C>T (p.Pro25Leu) rs145852974
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.764dup (p.Tyr255Ter) rs786205105
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser) rs746312808
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys) rs373621431
NM_001909.5(CTSD):c.816C>A (p.Val272=) rs1554962441
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+2T>C
NM_001909.5(CTSD):c.828-17G>A rs78735768
NM_001909.5(CTSD):c.828-4G>A rs371034011
NM_001909.5(CTSD):c.829G>A (p.Val277Met)
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.882G>A (p.Val294=) rs778999077
NM_001909.5(CTSD):c.891C>T (p.Gly297=) rs755183661
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe)
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.926G>A (p.Arg309His) rs374540411
NM_001909.5(CTSD):c.927C>T (p.Arg309=) rs1174115566
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.933G>A (p.Leu311=) rs1428157464
NM_001909.5(CTSD):c.940G>A (p.Ala314Thr) rs886048065
NM_001909.5(CTSD):c.945C>T (p.Ile315=) rs752172496
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg) rs764766572
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+7G>A rs371747998
NM_001909.5(CTSD):c.972+9C>T rs746243061
NM_001909.5(CTSD):c.973-8C>A rs886048064
NM_001909.5(CTSD):c.978G>A (p.Met326Ile) rs370282882
NM_001909.5(CTSD):c.993G>A (p.Lys331=) rs1181418072
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn) rs1181418072
NM_001909.5(CTSD):c.999C>A (p.Ser333=)

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