ClinVar Miner

List of variants in gene TRIOBP reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) rs118204026
NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter) rs1060499809
NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter) rs118204027
NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter) rs118204029
NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg) rs549095193
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter) rs118204030
NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs) rs1601632909
NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs)
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) rs118204031
NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter) rs1569042693
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) rs1569042782
NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter) rs1569046250
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032
NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter) rs727503528
NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter) rs118204028

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.