List of variants in gene CTSD reported as uncertain significance for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 50

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001909.5(CTSD):c.912G>A (p.Pro304=)	rs140238987	0.00281
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)	rs147800688	0.00025
NM_001909.5(CTSD):c.294G>A (p.Thr98=)	rs369373285	0.00019
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.1202A>G (p.Asn401Ser)	rs147553344	0.00012
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.267C>G (p.Pro89=)	rs139154882	0.00006
NM_001909.5(CTSD):c.411G>A (p.Ser137=)	rs372999684	0.00006
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr)	rs779858404	0.00005
NM_001909.5(CTSD):c.37C>T (p.Leu13=)	rs763474887	0.00005
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu)	rs777645484	0.00005
NM_001909.5(CTSD):c.505C>G (p.Leu169Val)	rs768487717	0.00005
NM_001909.5(CTSD):c.283G>A (p.Val95Ile)	rs141482597	0.00004
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn)	rs796052401	0.00004
NM_001909.5(CTSD):c.697C>T (p.Leu233=)	rs142330967	0.00004
NM_001909.5(CTSD):c.972+9C>T	rs746243061	0.00004
NM_001909.5(CTSD):c.817C>T (p.His273Tyr)	rs145905196	0.00003
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu)	rs796052406	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.1231C>T (p.Arg411Cys)	rs766987476	0.00001
NM_001909.5(CTSD):c.229-19G>A	rs368152533	0.00001
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg)	rs199551387	0.00001
NM_001909.5(CTSD):c.346G>A (p.Ala116Thr)	rs367743333	0.00001
NM_001909.5(CTSD):c.63C>T (p.Leu21=)	rs1021613206	0.00001
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys)	rs373621431	0.00001
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu)	rs373170074	0.00001
NM_001909.5(CTSD):c.972+10G>A	rs531682785	0.00001
NM_001909.5(CTSD):c.982C>G (p.Pro328Ala)	rs796052397	0.00001
NM_001909.5(CTSD):c.1185T>G (p.Thr395=)	rs1565018468
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.241G>T (p.Gly81Trp)	rs199551387
NM_001909.5(CTSD):c.266C>T (p.Pro89Leu)
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser)	rs1845913637
NM_001909.5(CTSD):c.380A>G (p.Lys127Arg)
NM_001909.5(CTSD):c.443C>T (p.Ser148Phe)	rs796052402
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.613C>T (p.Arg205Cys)	rs769825646
NM_001909.5(CTSD):c.653T>C (p.Leu218Pro)	rs1131691905
NM_001909.5(CTSD):c.704+5G>A	rs1064796905
NM_001909.5(CTSD):c.704+7G>A	rs748547852
NM_001909.5(CTSD):c.705-3T>G	rs112817417
NM_001909.5(CTSD):c.877A>C (p.Ile293Leu)	rs748185051
NM_001909.5(CTSD):c.904G>T (p.Val302Leu)	rs749491748
NM_001909.5(CTSD):c.924G>A (p.Val308=)	rs1554962286
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys)	rs373699222

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.