ClinVar Miner

List of variants in gene CTSD reported as uncertain significance for Neuronal ceroid lipofuscinosis

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Gene type:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg) rs138191189 0.00014
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338 0.00013
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.283G>A (p.Val95Ile) rs141482597 0.00006
NM_001909.5(CTSD):c.797G>A (p.Arg266His) rs755866863 0.00006
NM_001909.5(CTSD):c.1071+6C>T rs759803379 0.00005
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr) rs779858404 0.00005
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala) rs778724059 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.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_001909.5(CTSD):c.505C>G (p.Leu169Val) rs768487717 0.00004
NM_001909.5(CTSD):c.704+6C>T rs370847523 0.00004
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183 0.00003
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser) rs775460488 0.00003
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg) rs746140722 0.00003
NM_001909.5(CTSD):c.622G>A (p.Val208Ile) rs778031733 0.00003
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) rs145905196 0.00003
NM_001909.5(CTSD):c.969C>T (p.Gly323=) rs774332555 0.00003
NM_001909.5(CTSD):c.970G>A (p.Glu324Lys) rs376034984 0.00003
NM_001909.5(CTSD):c.1076C>T (p.Ser359Leu) rs545364302 0.00002
NM_001909.5(CTSD):c.508G>A (p.Gly170Ser) rs904430565 0.00002
NM_001909.5(CTSD):c.527G>A (p.Arg176Lys) rs757688598 0.00002
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr) rs796052403 0.00002
NM_001909.5(CTSD):c.671T>A (p.Val224Glu) rs887185230 0.00002
NM_001909.5(CTSD):c.68+6G>A rs1011130987 0.00002
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu) rs796052406 0.00001
NM_001909.5(CTSD):c.1064C>T (p.Thr355Met) rs1318388119 0.00001
NM_001909.5(CTSD):c.1066C>T (p.Leu356Phe) rs775579878 0.00001
NM_001909.5(CTSD):c.1129C>A (p.Pro377Thr) rs1412376424 0.00001
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val) rs767863175 0.00001
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn) rs764522039 0.00001
NM_001909.5(CTSD):c.1171G>A (p.Gly391Ser) rs772723204 0.00001
NM_001909.5(CTSD):c.1174C>T (p.Arg392Cys) rs377696355 0.00001
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys) rs554062876 0.00001
NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys) rs766987476 0.00001
NM_001909.5(CTSD):c.1232G>A (p.Arg411His) rs200303993 0.00001
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg) rs199551387 0.00001
NM_001909.5(CTSD):c.256G>A (p.Gly86Arg) rs1845850566 0.00001
NM_001909.5(CTSD):c.260C>T (p.Thr87Met) rs770248571 0.00001
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg) rs1042278213 0.00001
NM_001909.5(CTSD):c.289G>A (p.Asp97Asn) rs754680487 0.00001
NM_001909.5(CTSD):c.301T>C (p.Ser101Pro) rs1049074086 0.00001
NM_001909.5(CTSD):c.343A>G (p.Ile115Val) rs2493826843 0.00001
NM_001909.5(CTSD):c.353-7G>A rs1438596750 0.00001
NM_001909.5(CTSD):c.355A>G (p.Ile119Val) rs768013885 0.00001
NM_001909.5(CTSD):c.371A>G (p.Asn124Ser) rs375052866 0.00001
NM_001909.5(CTSD):c.380A>T (p.Lys127Met) rs1438409242 0.00001
NM_001909.5(CTSD):c.423C>G (p.His141Gln) rs375323994 0.00001
NM_001909.5(CTSD):c.471G>A (p.Ser157=) rs760318745 0.00001
NM_001909.5(CTSD):c.488C>T (p.Ala163Val) rs772976217 0.00001
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu) rs1845824897 0.00001
NM_001909.5(CTSD):c.571A>G (p.Ile191Val) rs750166391 0.00001
NM_001909.5(CTSD):c.631G>A (p.Val211Met) rs779469223 0.00001
NM_001909.5(CTSD):c.640G>A (p.Val214Ile) rs756998360 0.00001
NM_001909.5(CTSD):c.716C>T (p.Ala239Val) rs759564989 0.00001
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) rs763407972 0.00001
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser) rs746312808 0.00001
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys) rs373621431 0.00001
NM_001909.5(CTSD):c.829G>A (p.Val277Met) rs372319807 0.00001
NM_001909.5(CTSD):c.832G>C (p.Glu278Gln) rs1402574017 0.00001
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe) rs1256954867 0.00001
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222 0.00001
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg) rs764766572 0.00001
NM_001909.5(CTSD):c.952G>A (p.Val318Met) rs776324764 0.00001
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu) rs373170074 0.00001
NM_001909.5(CTSD):c.972+6C>T rs765320531 0.00001
NM_001909.5(CTSD):c.978G>A (p.Met326Ile) rs370282882 0.00001
NM_001909.5(CTSD):c.982C>G (p.Pro328Ala) rs796052397 0.00001
NC_000011.9:g.(?_1774733)_(1778806_?)del
NC_000011.9:g.(?_1774733)_(1778806_?)dup
NC_000011.9:g.(?_1774733)_(1785089_?)dup
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser) rs147800688
NM_001909.5(CTSD):c.1012A>C (p.Ile338Leu) rs2493816533
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg) rs1845759906
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu) rs765270800
NM_001909.5(CTSD):c.1072-1G>A rs2493816154
NM_001909.5(CTSD):c.1080G>C (p.Gln360His) rs2133657278
NM_001909.5(CTSD):c.1081G>T (p.Ala361Ser) rs1845756287
NM_001909.5(CTSD):c.1105G>A (p.Gly369Ser) rs1845755979
NM_001909.5(CTSD):c.1111A>G (p.Met371Val) rs1452124479
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile) rs796052398
NM_001909.5(CTSD):c.1119G>T (p.Met373Ile) rs796052398
NM_001909.5(CTSD):c.1136G>A (p.Ser379Asn) rs1177483130
NM_001909.5(CTSD):c.1142del (p.Pro381fs) rs2493816019
NM_001909.5(CTSD):c.1146_1147del (p.Trp383fs) rs2133657191
NM_001909.5(CTSD):c.1147_1148del (p.Trp383fs) rs2133657189
NM_001909.5(CTSD):c.1175G>A (p.Arg392His) rs374531851
NM_001909.5(CTSD):c.1175G>T (p.Arg392Leu) rs374531851
NM_001909.5(CTSD):c.1196G>A (p.Arg399His) rs797045138
NM_001909.5(CTSD):c.1199ACA[2] (p.Asn402del) rs2133657126
NM_001909.5(CTSD):c.1204A>G (p.Asn402Asp) rs2493815910
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu) rs750489880
NM_001909.5(CTSD):c.1213G>A (p.Gly405Ser) rs2493815890
NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro) rs1316535195
NM_001909.5(CTSD):c.1229C>G (p.Ala410Gly) rs1845753565
NM_001909.5(CTSD):c.1234C>T (p.Leu412Phe) rs1412753935
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg) rs1554962202
NM_001909.5(CTSD):c.253A>G (p.Ile85Val) rs1565022412
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala) rs796052400
NM_001909.5(CTSD):c.262C>T (p.Pro88Ser) rs796052400
NM_001909.5(CTSD):c.269A>G (p.Gln90Arg) rs2493827245
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser) rs1845913637
NM_001909.5(CTSD):c.293C>G (p.Thr98Arg) rs748897941
NM_001909.5(CTSD):c.304A>C (p.Asn102His) rs2133664207
NM_001909.5(CTSD):c.307C>G (p.Leu103Val) rs750415207
NM_001909.5(CTSD):c.313G>A (p.Val105Ile) rs897944478
NM_001909.5(CTSD):c.347C>T (p.Ala116Val) rs1371823186
NM_001909.5(CTSD):c.353-6G>A rs1565022065
NM_001909.5(CTSD):c.358C>T (p.His120Tyr) rs1381781298
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp) rs1590907227
NM_001909.5(CTSD):c.378C>A (p.Asp126Glu) rs2493826019
NM_001909.5(CTSD):c.394G>A (p.Val132Met) rs770820791
NM_001909.5(CTSD):c.407C>T (p.Thr136Ile) rs11555043
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr) rs1845842497
NM_001909.5(CTSD):c.431C>T (p.Ser144Leu) rs754147413
NM_001909.5(CTSD):c.437G>T (p.Ser146Ile) rs911813557
NM_001909.5(CTSD):c.445G>A (p.Gly149Arg) rs762336399
NM_001909.5(CTSD):c.463A>T (p.Thr155Ser) rs764778708
NM_001909.5(CTSD):c.464_465delinsGC (p.Thr155Ser) rs1845841625
NM_001909.5(CTSD):c.465_466inv (p.Val156Met)
NM_001909.5(CTSD):c.471+6T>G rs2133663481
NM_001909.5(CTSD):c.472G>A (p.Val158Met) rs1845825107
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg) rs1845825044
NM_001909.5(CTSD):c.493T>A (p.Ser165Thr) rs2493823779
NM_001909.5(CTSD):c.497C>T (p.Ala166Val) rs796052396
NM_001909.5(CTSD):c.502G>T (p.Ala168Ser) rs1554962647
NM_001909.5(CTSD):c.509G>A (p.Gly170Asp) rs1845824451
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.5(CTSD):c.555G>T (p.Gln185His) rs2493823639
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile) rs1554962634
NM_001909.5(CTSD):c.574G>A (p.Ala192Thr) rs767282477
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn) rs1388675826
NM_001909.5(CTSD):c.608A>T (p.Tyr203Phe) rs1590906292
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys) rs769825646
NM_001909.5(CTSD):c.616A>G (p.Ile206Val) rs2133661989
NM_001909.5(CTSD):c.646G>A (p.Asp216Asn) rs1235872591
NM_001909.5(CTSD):c.64G>T (p.Val22Phe) rs1060502503
NM_001909.5(CTSD):c.657G>T (p.Met219Ile) rs2493823483
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg) rs1845822086
NM_001909.5(CTSD):c.670G>A (p.Val224Met) rs2493823459
NM_001909.5(CTSD):c.68+5A>C rs1444419430
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del) rs1057519591
NM_001909.5(CTSD):c.689_691del (p.Ser230del) rs2493823409
NM_001909.5(CTSD):c.692_694del (p.Phe231del) rs1478615059
NM_001909.5(CTSD):c.704+6C>A rs370847523
NM_001909.5(CTSD):c.725G>T (p.Gly242Val) rs1252953375
NM_001909.5(CTSD):c.767A>G (p.Lys256Arg) rs2493820397
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln) rs749091423
NM_001909.5(CTSD):c.827+3G>A
NM_001909.5(CTSD):c.827+5G>A rs2493820290
NM_001909.5(CTSD):c.828-19_828-18delinsCT rs2493817297
NM_001909.5(CTSD):c.828-3C>A rs1240200492
NM_001909.5(CTSD):c.829G>T (p.Val277Leu) rs372319807
NM_001909.5(CTSD):c.833_835dup (p.Glu278_Val279insGlu) rs2493817210
NM_001909.5(CTSD):c.834G>C (p.Glu278Asp) rs1845765111
NM_001909.5(CTSD):c.845G>T (p.Gly282Val) rs2493817172
NM_001909.5(CTSD):c.851C>G (p.Thr284Ser) rs1845764679
NM_001909.5(CTSD):c.863A>G (p.Glu288Gly) rs773273362
NM_001909.5(CTSD):c.887C>G (p.Thr296Arg) rs2493817064
NM_001909.5(CTSD):c.904G>T (p.Val302Leu) rs749491748
NM_001909.5(CTSD):c.906G>A (p.Val302=) rs1590904028
NM_001909.5(CTSD):c.908_913del (p.Gly303_Pro304del) rs2493816979
NM_001909.5(CTSD):c.908_916del (p.Gly303_Val305del) rs2493816962
NM_001909.5(CTSD):c.918T>G (p.Asp306Glu) rs2133657880
NM_001909.5(CTSD):c.968G>A (p.Gly323Asp) rs761766384
NM_001909.5(CTSD):c.972+4A>G rs2133657784
NM_001909.5(CTSD):c.972+4_972+5dup rs1386489811
NM_001909.5(CTSD):c.976A>G (p.Met326Val) rs1425884068
NM_001909.5(CTSD):c.982C>T (p.Pro328Ser) rs796052397
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn) rs1181418072

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