ClinVar Miner

List of variants in gene CTSD reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 106
Download table as spreadsheet
HGVS dbSNP
NC_000011.9:g.(?_1774733)_(1785089_?)dup
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser)
NM_001909.5(CTSD):c.101G>A (p.Arg34Gln) rs1240316419
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu) rs796052406
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu) rs765270800
NM_001909.5(CTSD):c.1071+6C>T rs759803379
NM_001909.5(CTSD):c.1076C>T (p.Ser359Leu)
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183
NM_001909.5(CTSD):c.1105G>A (p.Gly369Ser)
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.1136G>A (p.Ser379Asn)
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.1175G>T (p.Arg392Leu)
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala) rs778724059
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr) rs779858404
NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro)
NM_001909.5(CTSD):c.1229C>G (p.Ala410Gly)
NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys)
NM_001909.5(CTSD):c.1232G>A (p.Arg411His)
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg) rs1554962202
NM_001909.5(CTSD):c.127G>C (p.Val43Leu)
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.16C>T (p.Leu6Phe)
NM_001909.5(CTSD):c.184G>A (p.Val62Met) rs756892066
NM_001909.5(CTSD):c.184G>T (p.Val62Leu)
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.223A>G (p.Met75Val) rs144192783
NM_001909.5(CTSD):c.253A>G (p.Ile85Val) rs1565022412
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.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.307C>G (p.Leu103Val)
NM_001909.5(CTSD):c.339G>A (p.Leu113=)
NM_001909.5(CTSD):c.353-6G>A rs1565022065
NM_001909.5(CTSD):c.358C>T (p.His120Tyr)
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp) rs1590907227
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr)
NM_001909.5(CTSD):c.429C>T (p.Gly143=)
NM_001909.5(CTSD):c.432G>A (p.Ser144=) rs587780916
NM_001909.5(CTSD):c.463A>T (p.Thr155Ser)
NM_001909.5(CTSD):c.464_465delinsGC (p.Thr155Ser)
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.505C>G (p.Leu169Val) rs768487717
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser) rs775460488
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg)
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.566C>T (p.Thr189Ile) rs1554962634
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn)
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.621C>A (p.Ser207=) rs367978332
NM_001909.5(CTSD):c.622G>A (p.Val208Ile)
NM_001909.5(CTSD):c.631G>A (p.Val211Met)
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.665A>G (p.Lys222Arg)
NM_001909.5(CTSD):c.68+6G>A rs1011130987
NM_001909.5(CTSD):c.704+6C>A
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.769G>A (p.Gly257Ser) rs746312808
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys) rs373621431
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln)
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) rs145905196
NM_001909.5(CTSD):c.828-6C>G
NM_001909.5(CTSD):c.829G>A (p.Val277Met)
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.927C>T (p.Arg309=) rs1174115566
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg) rs764766572
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu) rs373170074
NM_001909.5(CTSD):c.968G>A (p.Gly323Asp)
NM_001909.5(CTSD):c.969C>T (p.Gly323=)
NM_001909.5(CTSD):c.976A>G (p.Met326Val)
NM_001909.5(CTSD):c.978G>A (p.Met326Ile) rs370282882
NM_001909.5(CTSD):c.982C>T (p.Pro328Ser)
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn) rs1181418072

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.