ClinVar Miner

List of variants in gene USH1C reported as benign by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.105-16C>T rs2041027 0.41822
NM_153676.4(USH1C):c.1770C>T (p.Ala590=) rs17776775 0.03494
NM_153676.4(USH1C):c.1859G>T (p.Arg620Leu) rs139996942 0.02272
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_005709.4(USH1C):c.1266G>A (p.Thr422=) rs35188020 0.00558
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279

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.