ClinVar Miner

List of variants in gene CTNS reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (962):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_001031681.2(CTNS):c.-353G>A rs373260107
NM_004937.3(CTNS):c.*1031_*1033dup rs1355863772
NM_004937.3(CTNS):c.*1174_*1175CT[1] rs397857879
NM_004937.3(CTNS):c.*1669C>T rs117079843
NM_004937.3(CTNS):c.*180C>T
NM_004937.3(CTNS):c.*2012C>T
NM_004937.3(CTNS):c.*2119G>T rs80249487
NM_004937.3(CTNS):c.*2132G>A rs74485511
NM_004937.3(CTNS):c.*847C>T rs146131305
NM_004937.3(CTNS):c.1035C>T (p.Phe345=) rs149007536
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390
NM_004937.3(CTNS):c.117G>A (p.Ser39=) rs765428193
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_004937.3(CTNS):c.141-4A>C rs1437667230
NM_004937.3(CTNS):c.156A>G (p.Ala52=) rs1597623923
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn) rs139364393
NM_004937.3(CTNS):c.225+5_225+7dup rs1555561050
NM_004937.3(CTNS):c.300T>C (p.Tyr100=) rs376042415
NM_004937.3(CTNS):c.341G>A (p.Arg114His) rs559362332
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser) rs200313254
NM_004937.3(CTNS):c.461+10del rs377470989
NM_004937.3(CTNS):c.461+8C>T rs368822078
NM_004937.3(CTNS):c.462-7C>A rs189632527
NM_004937.3(CTNS):c.480C>T (p.Phe160=) rs147565118
NM_004937.3(CTNS):c.510C>T (p.Phe170=) rs747488464
NM_004937.3(CTNS):c.561+4C>T rs111256750
NM_004937.3(CTNS):c.588C>T (p.Asn196=) rs757955245
NM_004937.3(CTNS):c.609C>T (p.Ser203=) rs200273011
NM_004937.3(CTNS):c.612C>T (p.Asn204=) rs200170842
NM_004937.3(CTNS):c.66A>C (p.Ser22=) rs748125070
NM_004937.3(CTNS):c.684C>T (p.Arg228=) rs762346133
NM_004937.3(CTNS):c.852+8C>T rs780856527
NM_004937.3(CTNS):c.853-6G>T rs775425630
NM_004937.3(CTNS):c.897T>C (p.Ile299=) rs199824920
NM_004937.3(CTNS):c.969C>T (p.Asn323=) rs121908128

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.