ClinVar Miner

List of variants in gene USH1C reported as pathogenic for Usher syndrome type 1C

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_153676.3(USH1C):c.496+59_479-35GAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG[7]GAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG[2] rs55983148
NM_153676.4(USH1C):c.1211-1175del rs1207247951
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.7C>T (p.Arg3Ter) rs876657624
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370
USH1C, 1-BP DEL, 1220G
USH1C, IVS16AS, G-T, -1
USH1C, IVS1DS, G-T, +1
USH1C, IVS5AS, A DEL, -2
USH1C, IVS5DS, G-A, +1

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.